{"ExtendedGeneInfo":[{"id":"6305","symbol":"SBF1","description":"SET binding factor 1","refseqSummary":"This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014].","synonyms":["CMT4B3","DENND7A","MTMR5"],"symptoms":["Human Phenotype Ontology: Areflexia"," Autosomal recessive inheritance"," Brain atrophy"," Decreased nerve conduction velocity"," Distal sensory impairment"," Gait disturbance"," Intellectual disability"," Microcephaly"," Onion bulb formation"," Ophthalmoplegia"," Pes planus"," Progressive"," Scoliosis"," Strabismus"," Syndactyly"," Urinary incontinence
\n"],"pathways":["REACTOME: Membrane Trafficking"," Metabolism"," Metabolism of lipids"," Phospholipid metabolism"," PI Metabolism"," RAB GEFs exchange GTP for GDP on RABs"," Rab regulation of trafficking"," Synthesis of PIPs at the ER membrane"," Vesicle-mediated transport
\n"],"tissues":["NCBI Unigene: adipose tissue"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node
\n"],"diseases":["Cancer Gene Index [CGI]: leukemias"," oncogenic
\nAutDB: Autism"," Rare Single Gene Mutation
\nDISEASE DB (Univ of Copenhagen): Azoospermia"," Centronuclear myopathy"," Charcot-Marie-Tooth disease
\n"]},{"id":"8869","symbol":"ST3GAL5","description":"ST3 beta-galactoside alpha-2,3-sialyltransferase 5","refseqSummary":"Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].","synonyms":["SATI","SIAT9","SIATGM3S","SPDRS","ST3Gal V","ST3GalV"],"symptoms":["Human Phenotype Ontology: Absent speech"," Autosomal recessive inheritance"," Choreoathetosis"," Cortical visual impairment"," Developmental regression"," Developmental stagnation at onset of seizures"," Failure to thrive"," Feeding difficulties in infancy"," Generalized hypotonia"," Generalized tonic-clonic seizures"," Global brain atrophy"," Global developmental delay"," Hearing impairment"," Hypermelanotic macule"," Hyporeflexia of upper limbs"," Irritability"," Lower limb hyperreflexia"," Microcephaly"," Myoclonus
\n"],"pathways":["REACTOME: Asparagine N-linked glycosylation"," Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide"," LLO) and transfer to a nascent protein"," Metabolism of proteins"," Post-translational protein modification"," Sialic acid metabolism"," Synthesis of substrates in N-glycan biosythesis
\nKEGG: Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human)"," Metabolic pathways - Homo sapiens (human)
\nWIKIPATHWAYS: Ganglio Sphingolipid Metabolism
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," kidney"," kidney tumor"," liver"," liver tumor"," lung"," lung tumor"," lymph node"," mammary gland"," muscle"," non-neoplasia"," normal
\n"]},{"id":"11212","symbol":"PLPBP","description":"pyridoxal phosphate binding protein","refseqSummary":"This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017].","synonyms":["EPVB6D","PROSC"],"symptoms":["Human Phenotype Ontology: Abnormal facial shape"," Abnormality of metabolism/homeostasis"," Abnormality of movement"," Apnea"," Autosomal recessive inheritance"," Brain atrophy"," Cerebral cortical atrophy"," Clonus"," EEG abnormality"," Global developmental delay"," Hepatomegaly"," Hypertonia"," Intellectual disability"," Metabolic acidosis"," Muscular hypotonia"," Myoclonus"," Neurological speech impairment"," Poor speech"," Postnatal microcephaly"," Respiratory insufficiency
\n"],"tissues":["NCBI Unigene: adrenal gland"," adult"," ascites"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma"," mammary gland"," muscle"," neonate
\n"]},{"id":"25828","symbol":"TXN2","description":"thioredoxin 2","refseqSummary":"This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008].","synonyms":["COXPD29","MT-TRX","MTRX","TRX2","TXN"],"symptoms":["Human Phenotype Ontology: Autosomal recessive inheritance"," Axonal degeneration"," Cerebellar atrophy"," Congenital onset"," Decreased activity of mitochondrial complex I"," Decreased activity of mitochondrial complex III"," Delayed CNS myelination"," Dystonia"," Feeding difficulties"," Generalized hypotonia"," Global brain atrophy"," Global developmental delay"," Increased CSF lactate"," Increased CSF protein"," Increased serum lactate"," Infantile onset"," Microcephaly"," Optic atrophy"," Optic neuropathy
\n"],"pathways":["REACTOME: Cellular responses to external stimuli"," Cellular responses to stress"," Degradation of cysteine and homocysteine"," Detoxification of Reactive Oxygen Species"," Metabolism"," Metabolism of amino acids and derivatives"," Sulfur amino acid metabolism
\nKEGG: Fluid shear stress and atherosclerosis - Homo sapiens (human)"," NOD-like receptor signaling pathway - Homo sapiens (human)
\nWIKIPATHWAYS: Oxidative Stress
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor
\n"]},{"id":"57570","symbol":"TRMT5","description":"tRNA methyltransferase 5","refseqSummary":"tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008].","synonyms":["COXPD26","KIAA1393","TRM5"],"symptoms":["Human Phenotype Ontology: Abnormal activity of mitochondrial respiratory chain"," Autosomal recessive inheritance"," Babinski sign"," Blue sclerae"," Brain atrophy"," Cirrhosis"," Delayed myelination"," Exercise intolerance"," Exertional dyspnea"," Failure to thrive"," Generalized hypotonia"," Global developmental delay"," Hyperreflexia"," Hyporeflexia"," Increased serum lactate"," Malabsorption"," Muscular hypotonia"," Narrow mouth"," Phenotypic variability"," Poor speech"," Spasticity
\n"],"pathways":["REACTOME: Metabolism of RNA"," Synthesis of wybutosine at G37 of tRNA(Phe)"," tRNA modification in the nucleus and cytosol"," tRNA processing
\n"],"tissues":["NCBI Unigene: adipose tissue"," adult"," ascites"," blastocyst"," bone"," bone marrow"," brain"," chondrosarcoma"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," fetus"," gastrointestinal tumor"," germ cell tumor"," head and neck tumor"," heart"," kidney"," kidney tumor"," liver"," liver tumor"," lung"," lung tumor"," mouth"," non-neoplasia"," normal"," ovarian tumor"," ovary"," pharynx"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate"," prostate cancer"," skin
\n"]},{"id":"93627","symbol":"TBCK","description":"TBC1 domain containing kinase","refseqSummary":"This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].","synonyms":["HSPC302","IHPRF3","TBCKL"],"symptoms":["Human Phenotype Ontology: Abnormality of the periventricular white matter"," Anteverted nares"," Autosomal recessive inheritance"," Brain atrophy"," Bulbous nose"," Cerebellar hypoplasia"," Cerebellar vermis hypoplasia"," Cerebral atrophy"," Coarse facial features"," Congenital onset"," Cortical visual impairment"," Deeply set eye"," Developmental regression"," Dysplastic corpus callosum"," Encephalopathy"," Exaggerated cupid's bow"," Extra-axial cerebrospinal fluid accumulation"," Gastrostomy tube feeding in infancy"," Gingival overgrowth
\n"],"tissues":["NCBI Unigene: adult"," blastocyst"," blood"," bone"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma"," mammary gland"," mouth"," muscle"," neonate"," non-neoplasia
\n"]},{"id":"128240","symbol":"NAXE","description":"NAD(P)HX epimerase","refseqSummary":"The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008].","synonyms":["AIBP","APOA1BP","PEBEL","YJEFN1"],"symptoms":["Human Phenotype Ontology: Ataxia"," Autosomal recessive inheritance"," Brain atrophy"," Cerebellar edema"," Cerebral edema"," Coma"," Death in infancy"," Developmental regression"," Generalized hypotonia"," Increased CSF lactate"," Increased serum lactate"," Lactic acidosis"," Leukoencephalopathy"," Nystagmus"," Rapidly progressive"," Seizures"," Skin erosion"," Strabismus"," Tetraparesis"," Tremor
\n"],"pathways":["REACTOME: Metabolism"," Metabolism of vitamins and cofactors"," Metabolism of water-soluble vitamins and cofactors"," Nicotinamide salvaging"," Nicotinate metabolism
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," blood"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma"," mammary gland
\n"]},{"id":"10730","symbol":"YME1L1","description":"YME1 like 1 ATPase","refseqSummary":"The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].","synonyms":["FTSH","MEG4","OPA11","PAMP","YME1L"],"symptoms":["Human Phenotype Ontology: Amblyopia"," Autosomal recessive inheritance"," Brain atrophy"," Cerebellar hypoplasia"," Dysmetria"," Facial diplegia"," Generalized hypotonia"," Global developmental delay"," Hyperactivity"," Hyperkinesis"," Hypermetropia"," Infantile onset"," Intellectual disability"," Leukoencephalopathy"," Macrocephaly"," Macrotia"," Microcephaly"," Midface retrusion"," Myopia"," Optic atrophy"," Short stature"," Strabismus
\n"],"pathways":["REACTOME: Mitochondrial calcium ion transport"," Processing of SMDT1"," Transport of small molecules
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Optic atrophy"," Paraplegia
\n"]},{"id":"1106","symbol":"CHD2","description":"chromodomain helicase DNA binding protein 2","refseqSummary":"The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].","synonyms":"EEOC","symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormality of brainstem morphology"," Absence seizures"," Aggressive behavior"," Ataxia"," Atonic seizures"," Atypical absence seizures"," Autistic behavior"," Autosomal dominant inheritance"," Cutaneous photosensitivity"," Developmental regression"," Dysarthria"," EEG abnormality"," EEG with abnormally slow frequencies"," EEG with focal sharp slow waves"," EEG with spike-wave complexes (>3.5 Hz)"," Encephalopathy"," Epileptic encephalopathy"," Falls
\n"],"pathways":"WIKIPATHWAYS: Prion disease pathway
\n","tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor
\n"],"diseases":["Cancer Gene Index [CGI]: chl"," colon cancer"," tumor
\nAutDB: Autism"," Rare Single Gene Mutation"," Syndromic
\nDISEASE DB (Univ of Copenhagen): Choanal atresia"," Intellectual disability
\n"]},{"id":"124997","symbol":"WDR81","description":"WD repeat domain 81","refseqSummary":"This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].","synonyms":["CAMRQ2","PPP1R166","SORF-2"],"symptoms":["Human Phenotype Ontology: Abnormality of the neck"," Abnormality of vision"," Aplasia of the inferior half of the cerebellar vermis"," Ataxia"," Atrophy of the dentate nucleus"," Autosomal recessive inheritance"," Cataract"," Cerebellar atrophy"," Cerebellar hypoplasia"," Cerebral palsy"," Coarse facial features"," Delayed speech and language development"," Dysarthria"," Dysdiadochokinesis"," Dysmetria"," Gait disturbance"," Global brain atrophy"," Global developmental delay"," Hirsutism"," Hyperreflexia
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," blood"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Cerebellar ataxia"," Intellectual disability"," Pontocerebellar hypoplasia"," Usher syndrome type 1
\n"]},{"id":"2022","symbol":"ENG","description":"endoglin","refseqSummary":"This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].","synonyms":["END","HHT1","ORW1"],"symptoms":["Human Phenotype Ontology: Abnormal circle of Willis morphology"," Abnormality of brainstem morphology"," Amblyopia"," Anemia"," Aortic dissection"," Aortic root aneurysm"," Arteriovenous fistulas of celiac and mesenteric vessels"," Atherosclerosis"," Autosomal dominant inheritance"," Brain abscess"," Cavernous hemangioma"," Cerebral arteriovenous malformation"," Cerebral berry aneurysm"," Cerebral hemorrhage"," Cholecystitis"," Cholelithiasis"," Cirrhosis"," Clubbing"," Congestive heart failure
\n"],"pathways":["NCI: HIF-1-alpha transcription factor network
\nWIKIPATHWAYS: Hypothesized Pathways in Pathogenesis of Cardiovascular Disease"," TGF-beta Receptor Signaling
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," bladder carcinoma"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor
\n"],"diseases":["Cancer Gene Index [CGI]: acute lymphoblastic leukemia"," adenomas"," arteriovenous malformations"," barrett's esophagus"," bladder carcinoma"," breast adenocarcinomas"," breast cancer"," breast cancers"," breast carcinoma"," breast carcinomas"," cancer"," cancers"," carcinoma"," carcinomas"," choriocarcinoma"," chronic idiopathic myelofibrosis"," chronic myeloproliferative disorders"," cll
\nDISEASE DB (Univ of Copenhagen): Angiodysplasia"," Arteriovenous malformation"," Cancer
\n"]},{"id":"203228","symbol":"C9orf72","description":"chromosome 9 open reading frame 72","refseqSummary":"The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016].","synonyms":["ALSFTD","DENNL72","FTDALS","FTDALS1"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abulia"," Adult onset"," Aggressive behavior"," Agitation"," Alexia"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Apraxia"," Astrocytosis"," Autosomal dominant inheritance"," Cerebral atrophy"," Collectionism"," Delusions"," Depressivity"," Disinhibition"," Dysarthria
\n"],"pathways":"WIKIPATHWAYS: Mesodermal Commitment Pathway
\n","tissues":["NCBI Unigene: adult"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone marrow"," brain"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," head and neck tumor"," heart"," intestine"," juvenile"," kidney"," leukemia"," liver"," liver tumor"," lung"," lymph node"," lymphoma"," mouth"," muscle"," neonate"," non-neoplasia"," normal"," pancreas"," pancreatic tumor"," pharynx"," pituitary gland"," placenta"," prostate
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Alzheimer's disease"," Amyotrophic lateral sclerosis"," Aphasia"," Dementia"," Frontotemporal dementia"," Huntington's disease"," Lateral sclerosis"," Multiple system atrophy"," Myotonic dystrophy type 1"," Progressive muscular atrophy"," Progressive supranuclear palsy"," Spinocerebellar ataxia type 8
\n"]},{"id":"22943","symbol":"DKK1","description":"dickkopf WNT signaling pathway inhibitor 1","refseqSummary":"This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017].","synonyms":["DKK-1","SK"],"symptoms":["Human Phenotype Ontology: Abnormality of the clivus"," Abnormality of the eleventh cranial nerve"," Abnormality of the musculature of the lower limbs"," Abnormality of the twelfth cranial nerve"," Abnormality of the vestibulocochlear nerve"," Adult onset sensorineural hearing impairment"," Anteriorly placed odontoid process"," Areflexia of upper limbs"," Arnold-Chiari type I malformation"," Babinski sign"," Basilar impression"," Basilar invagination"," Bone pain"," Brain stem compression"," Central sleep apnea"," Cervical C2/C3 vertebral fusion"," Cranial nerve compression
\n"],"pathways":["NCI: Direct p53 effectors"," Presenilin action in Notch and Wnt signaling"," Regulation of nuclear beta catenin signaling and target gene transcription
\nREACTOME: Disease"," Diseases of signal transduction"," Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling"," Negative regulation of TCF-dependent signaling by WNT ligand antagonists
\nWIKIPATHWAYS: BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation"," Cardiac Progenitor Differentiation"," Differentiation Pathway"," EDA Signalling in Hair Follicle Development"," Endoderm Differentiation"," Hair Follicle Development: Cytodifferentiation (Part 3 of 3)"," LncRNA involvement in canonical Wnt signaling and colorectal cancer"," Mesodermal Commitment Pathway"," Primary Focal Segmental Glomerulosclerosis FSGS
\n"],"tissues":["NCBI Unigene: adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," bone"," bone marrow"," brain"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryonic tissue"," fetus"," gastrointestinal tumor"," germ cell tumor"," head and neck tumor"," infant"," intestine"," juvenile"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph node"," mammary gland"," mouth"," muscle"," normal"," ovary"," pancreas"," pancreatic tumor"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate
\n"],"diseases":["Cancer Gene Index [CGI]: acute promyelocytic leukaemia (apl)"," adh"," aml"," bone metastases"," bone metastasis"," brain tumor"," breast cancer"," breast tumors"," breast tumours"," cancer"," cap"," carcinogenesis"," cervical cancer"," cervical carcinoma"," choriocarcinomas"," chronic lymphocytic leukemia"," colon cancer"," colorectal cancer"," colorectal cancer (crc)
\nDISEASE DB (Univ of Copenhagen): Ankylosing spondylitis"," Ankylosis"," Arthritis"," Cancer
\n"]},{"id":"25978","symbol":"CHMP2B","description":"charged multivesicular body protein 2B","refseqSummary":"This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].","synonyms":["ALS17","CHMP2.5","DMT1","VPS2-2","VPS2B"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abulia"," Adult onset"," Aggressive behavior"," Agitation"," Alexia"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Apraxia"," Areflexia"," Astrocytosis"," Autosomal dominant inheritance"," Babinski sign"," Brisk reflexes"," Bulbar signs"," Cerebral cortical atrophy
\n"],"pathways":["REACTOME: Budding and maturation of HIV virion"," Cellular responses to external stimuli"," Disease"," Endosomal Sorting Complex Required For Transport (ESCRT)"," HIV Infection"," HIV Life Cycle"," Infectious disease"," Late Phase of HIV Life Cycle"," Macroautophagy"," Membrane Trafficking"," Vesicle-mediated transport
\nKEGG: Endocytosis - Homo sapiens (human)"," Necroptosis - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Aphasia"," Dementia"," Frontotemporal dementia"," Progressive muscular atrophy"," Progressive supranuclear palsy
\n"]},{"id":"2752","symbol":"GLUL","description":"glutamate-ammonia ligase","refseqSummary":"The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].","synonyms":["GLNS","GS","PIG43","PIG59"],"symptoms":["Human Phenotype Ontology: Apnea"," Autosomal recessive inheritance"," Bradycardia"," Brain atrophy"," CNS hypomyelination"," Death in infancy"," Depressed nasal bridge"," Encephalopathy"," Flexion contracture"," Generalized hypotonia"," Hyperammonemia"," Hyperreflexia"," Hypoplasia of the corpus callosum"," Low-set ears"," Micromelia"," Periventricular cysts"," Respiratory insufficiency"," Seizures"," Severe global developmental delay"," Skin rash"," Subependymal cysts
\n"],"pathways":["REACTOME: Amino acid synthesis and interconversion (transamination)"," Astrocytic Glutamate-Glutamine Uptake And Metabolism"," Metabolism"," Metabolism of amino acids and derivatives"," Neuronal System"," Neurotransmitter uptake and metabolism In glial cells"," Transmission across Chemical Synapses
\nKEGG: Alanine"," aspartate and glutamate metabolism - Homo sapiens (human)"," Arginine biosynthesis - Homo sapiens (human)"," Biosynthesis of amino acids - Homo sapiens (human)"," GABAergic synapse - Homo sapiens (human)"," Glutamatergic synapse - Homo sapiens (human)"," Glyoxylate and dicarboxylate metabolism - Homo sapiens (human)"," Metabolic pathways - Homo sapiens (human)"," Necroptosis - Homo sapiens (human)"," Nitrogen metabolism - Homo sapiens (human)
\nWIKIPATHWAYS: Amino Acid metabolism"," TNF alpha Signaling Pathway
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Adenoma"," Epilepsy"," Eye disease"," Griscelli syndrome type 2"," Hepatic encephalopathy"," Hepatocellular carcinoma"," Toxic encephalopathy
\n"]},{"id":"285175","symbol":"UNC80","description":"unc-80 homolog, NALCN channel complex subunit","refseqSummary":"The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016].","synonyms":["C2orf21","UNC-80"],"symptoms":["Human Phenotype Ontology: Absent speech"," Anteverted nares"," Appendicular hypotonia"," Autosomal recessive inheritance"," Brachycephaly"," Broad forehead"," Bulbous nose"," Cachexia"," Cerebral atrophy"," Constipation"," Downslanted palpebral fissures"," Dyskinesia"," Epicanthus"," Esotropia"," Facial hypotonia"," Failure to thrive in infancy"," Feeding difficulties"," Frontal bossing"," Generalized hypotonia"," Global brain atrophy"," High forehead"," Hip contracture
\n"],"pathways":["REACTOME: Ion channel transport"," Stimuli-sensing channels"," Transport of small molecules
\n"],"tissues":["NCBI Unigene: adult"," brain"," connective tissue"," eye"," fetus"," germ cell tumor"," glioma"," juvenile"," lung"," muscle"," non-neoplasia"," normal"," ovarian tumor"," ovary"," pancreas"," parathyroid"," pituitary gland"," primitive neuroectodermal tumor of the CNS"," soft tissue/muscle tissue tumor"," testis"," trachea
\n"],"diseases":["AutDB: Autism"," Rare Single Gene Mutation
\nDISEASE DB (Univ of Copenhagen): Bruxism"," Esotropia
\n"]},{"id":"2896","symbol":"GRN","description":"granulin precursor","refseqSummary":"Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008].","synonyms":["CLN11","GEP","GP88","PCDGF","PEPI","PGRN"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abulia"," Aggressive behavior"," Agitation"," Alexia"," Anxiety"," Apathy"," Aphasia"," Apraxia"," Astrocytosis"," Ataxia"," Autosomal dominant inheritance"," Autosomal recessive inheritance"," Cerebellar atrophy"," Cerebral cortical atrophy"," Collectionism"," Depressivity
\n"],"pathways":["REACTOME: Immune System"," Innate Immune System"," Neutrophil degranulation
\nWIKIPATHWAYS: Integrated Breast Cancer Pathway
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor
\n"],"diseases":["Cancer Gene Index [CGI]: breast cancer"," breast carcinoma"," breast carcinomas"," breast tumors"," cancer"," ductal carcinoma in situ"," epithelial ovarian cancer"," glial tumors"," glioblastoma"," human breast cancer"," human breast carcinoma"," human breast carcinomas
\nDISEASE DB (Univ of Copenhagen): Agraphia"," Alzheimer's disease"," Amyotrophic lateral sclerosis"," Aphasia"," Apraxia"," Cancer"," Dementia"," Echolalia"," Frontotemporal dementia
\n"]},{"id":"3178","symbol":"HNRNPA1","description":"heterogeneous nuclear ribonucleoprotein A1","refseqSummary":"This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016].","synonyms":["ALS19","ALS20","hnRNP A1","hnRNP-A1","HNRPA1","HNRPA1L3","IBMPFD3","UP 1"],"symptoms":["Human Phenotype Ontology: Abnormality of calvarial morphology"," Abnormality of long bone morphology"," Abnormality of the abdominal musculature"," Agitation"," Amyotrophic lateral sclerosis"," Anxiety"," Aphasia"," Autosomal dominant inheritance"," Brain atrophy"," Calvarial hyperostosis"," Cardiomyopathy"," Cataract"," Congestive heart failure"," Cranial nerve compression"," Depressivity"," Distal muscle weakness"," Dyscalculia"," Dyspnea"," Elevated alkaline phosphatase"," Elevated serum creatine phosphokinase
\n"],"pathways":["NCI: Coregulation of Androgen receptor activity
\nREACTOME: FGFR2 alternative splicing"," Metabolism of RNA"," mRNA Splicing"," mRNA Splicing - Major Pathway"," Processing of Capped Intron-Containing Pre-mRNA"," Signal Transduction"," Signaling by FGFR"," Signaling by FGFR2"," Signaling by Receptor Tyrosine Kinases
\nKEGG: Spliceosome - Homo sapiens (human)
\nWIKIPATHWAYS: mRNA Processing
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor
\n"],"diseases":["Cancer Gene Index [CGI]: acute leukemia"," cancer"," colon cancer"," erythroleukemia"," human colorectal cancer"," lung cancer"," tumor
\nDISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Cancer"," Frontotemporal dementia"," Multiple sclerosis"," Myopathy"," Spinal cord disease"," Spinal muscular atrophy"," Tropical spastic paraparesis
\n"]},{"id":"3181","symbol":"HNRNPA2B1","description":"heterogeneous nuclear ribonucleoprotein A2/B1","refseqSummary":"This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008].","synonyms":["HNRNPA2","HNRNPB1","HNRPA2","HNRPA2B1","HNRPB1","IBMPFD2","RNPA2","SNRPB1"],"symptoms":["Human Phenotype Ontology: Abnormality of calvarial morphology"," Abnormality of long bone morphology"," Abnormality of the skeletal system"," Amyotrophic lateral sclerosis"," Aphasia"," Behavioral abnormality"," Brain atrophy"," Calvarial hyperostosis"," Cardiomyopathy"," Cataract"," Centrally nucleated skeletal muscle fibers"," Congestive heart failure"," Cranial nerve compression"," Distal muscle weakness"," Dyscalculia"," Elevated alkaline phosphatase"," Elevated serum creatine phosphokinase"," EMG: chronic denervation signs
\n"],"pathways":["REACTOME: Cytokine Signaling in Immune system"," Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation"," Immune System"," Interleukin-12 family signaling"," Interleukin-12 signaling"," Metabolism of RNA"," mRNA Splicing"," mRNA Splicing - Major Pathway"," Processing of Capped Intron-Containing Pre-mRNA"," Signaling by Interleukins
\nWIKIPATHWAYS: mRNA Processing
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor
\n"],"diseases":["Cancer Gene Index [CGI]: adult t-cell lymphoma leukemia"," cancer"," esophageal squamous-cell carcinomas"," human lung cancer"," human lung cancers"," intestinal tumor"," lung cancer"," lung cancers"," lung squamous cell carcinoma"," neoplasia"," neoplasm"," oral squamous-cell carcinoma"," tumor
\nDISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Cancer"," Frontotemporal dementia
\n"]},{"id":"3704","symbol":"ITPA","description":"inosine triphosphatase","refseqSummary":"This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].","synonyms":["C20orf37","dJ794I6.3","HLC14-06-P","ITPase","My049","NTPase"],"symptoms":["Human Phenotype Ontology: Autosomal recessive inheritance"," Brain atrophy"," Cardiomyopathy"," Cataract"," Cerebral atrophy"," Death in infancy"," Delayed CNS myelination"," Encephalopathy"," Feeding difficulties"," Global developmental delay"," High pitched voice"," Infantile onset"," Intrauterine growth retardation"," Irritability"," Limb tremor"," Microcephaly"," Severe muscular hypotonia"," Status epilepticus
\n"],"pathways":["REACTOME: Metabolism"," Metabolism of nucleotides"," Nucleobase catabolism"," Purine catabolism
\nKEGG: Drug metabolism - other enzymes - Homo sapiens (human)"," Metabolic pathways - Homo sapiens (human)"," Purine metabolism - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung
\n"],"diseases":["Cancer Gene Index [CGI]: cancer"," colon cancer"," crohn's disease"," inflammatory bowel disease"," tumor
\nDISEASE DB (Univ of Copenhagen): Acute lymphocytic leukemia"," Anemia"," Hepatitis"," Hepatitis C"," Inflammatory bowel disease"," Leukopenia"," Specific language impairment"," Thiopurine S-methyltransferase deficiency
\n"]},{"id":"3767","symbol":"KCNJ11","description":"potassium voltage-gated channel subfamily J member 11","refseqSummary":"Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009].","synonyms":["BIR","HHF2","IKATP","KIR6.2","MODY13","PHHI","TNDM3"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal heart morphology"," Abnormality of fatty-acid metabolism"," Abnormality of the ear"," Abnormality of the immune system"," Abnormality of the pancreatic islet cells"," Agitation"," Anteverted nares"," Apraxia"," Arthrogryposis multiplex congenita"," Ataxia"," Autosomal dominant inheritance"," Autosomal recessive inheritance"," Beta-cell dysfunction"," Bilateral ptosis"," Clinodactyly"," Clinodactyly of the 4th finger"," Coma
\n"],"pathways":["NCI: FOXA2 and FOXA3 transcription factor networks
\nREACTOME: ABC transporter disorders"," ABC-family proteins mediated transport"," ATP sensitive Potassium channels"," Cardiac conduction"," Defective ABCC8 can cause hypoglycemias and hyperglycemias"," Disease"," Disorders of transmembrane transporters"," Integration of energy metabolism"," Inwardly rectifying K+ channels"," Ion homeostasis"," Metabolism"," Muscle contraction"," Neuronal System"," Potassium Channels"," Regulation of insulin secretion"," Transport of small molecules
\nKEGG: Insulin secretion - Homo sapiens (human)"," Type II diabetes mellitus - Homo sapiens (human)
\nWIKIPATHWAYS: Type II diabetes mellitus
\n"],"tissues":["NCBI Unigene: adult"," brain"," breast (mammary gland) tumor"," eye"," fetus"," gastrointestinal tumor"," head and neck tumor"," intestine"," kidney"," kidney tumor"," liver"," liver tumor"," mammary gland"," muscle"," nerve"," normal"," ovary"," pancreas"," prostate"," prostate cancer"," retinoblastoma"," soft tissue/muscle tissue tumor"," thyroid
\n"],"diseases":["Cancer Gene Index [CGI]: adenomas"," adenomatosis"," adenomatous hyperplasia"," adenomatous hyperplasias"," glioma"," hyperplasia"," insulinoma"," insulinomas"," islet cell hyperplasia"," leiomyoma"," necrosis
\nDISEASE DB (Univ of Copenhagen): Anemia"," Cancer"," Diabetes mellitus"," Epilepsy"," Heart disease"," Hyperglycemia"," Hyperinsulinemic hypoglycemia"," Hyperinsulinism"," Hypoglycemia"," maturity-onset diabetes of the young
\n"]},{"id":"4137","symbol":"MAPT","description":"microtubule associated protein tau","refseqSummary":"This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008].","synonyms":["DDPAC","FTDP-17","MAPTL","MSTD","MTBT1","MTBT2","PPND","PPP1R103","TAU"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormal pyramidal signs"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abulia"," Adult onset"," Aggressive behavior"," Akinesia"," Alexia"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Apraxia"," Astrocytosis"," Autosomal dominant inheritance"," Axial dystonia"," Blurred vision"," Bradykinesia"," Collectionism"," Dementia
\n"],"pathways":["NCI: LPA receptor mediated events"," Reelin signaling pathway
\nREACTOME: Apoptosis"," Apoptotic cleavage of cellular proteins"," Apoptotic execution phase"," Caspase-mediated cleavage of cytoskeletal proteins"," Programmed Cell Death
\nKEGG: Alzheimer disease - Homo sapiens (human)"," MAPK signaling pathway - Homo sapiens (human)
\nBIOCARTA: Bioactive Peptide Induced Signaling Pathway"," Deregulation of CDK5 in Alzheimers Disease
\nWIKIPATHWAYS: Alzheimers Disease"," Brain-Derived Neurotrophic Factor (BDNF) signaling pathway"," Copper homeostasis"," IL-2 Signaling Pathway"," IL-5 Signaling Pathway"," Kit receptor signaling pathway"," MAPK Signaling Pathway"," Notch Signaling Pathway"," Regulation of Microtubule Cytoskeleton
\n"],"tissues":["NCBI Unigene: adult"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," connective tissue"," ear"," embryonic tissue"," eye"," fetus"," germ cell tumor"," glioma"," head and neck tumor"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," lung"," lung tumor"," mammary gland"," muscle"," nerve"," non-neoplasia"," normal"," pancreas"," parathyroid"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate"," prostate cancer"," retinoblastoma"," salivary gland
\n"],"diseases":["Cancer Gene Index [CGI]: breast cancer"," embryonal carcinoma"," gastrointestinal stromal tumors"," human neuroblastoma"," neuroblastoma"," neuroblastomas
\nDISEASE DB (Univ of Copenhagen): Alzheimer's disease"," Amyloidosis"," Amyotrophic lateral sclerosis"," Aphasia"," Apraxia"," Brain disease"," Cancer"," Cerebrovascular disease"," Dementia"," Down syndrome"," Heart disease"," Koolen de Vries syndrome"," Multiple system atrophy"," Parkinson's disease
\n"]},{"id":"443","symbol":"ASPA","description":"aspartoacylase","refseqSummary":"This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].","synonyms":["ACY2","ASP"],"symptoms":["Human Phenotype Ontology: Abnormality of visual evoked potentials"," Aplasia/Hypoplasia involving the central nervous system"," Autosomal recessive inheritance"," Blindness"," Brain atrophy"," CNS demyelination"," Coma"," Delayed closure of the anterior fontanelle"," Delayed speech and language development"," Developmental regression"," Dysphagia"," EEG abnormality"," Gastroesophageal reflux"," Generalized seizures"," Global developmental delay"," Hearing impairment"," Intellectual disability"," Iris hypopigmentation"," Lethargy
\n"],"pathways":["REACTOME: Amino acid synthesis and interconversion (transamination)"," Metabolism"," Metabolism of amino acids and derivatives
\nKEGG: Alanine"," aspartate and glutamate metabolism - Homo sapiens (human)"," Histidine metabolism - Homo sapiens (human)"," Metabolic pathways - Homo sapiens (human)
\nWIKIPATHWAYS: Alanine and aspartate metabolism
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," brain"," fetus"," gastrointestinal tumor"," kidney"," mammary gland"," muscle"," normal"," skin"," stomach"," testis"," trachea"," uterine tumor"," uterus
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Argininosuccinic aciduria"," Canavan disease"," Sialuria
\n"]},{"id":"5155","symbol":"PDGFB","description":"platelet derived growth factor subunit B","refseqSummary":"This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015].","synonyms":["c-sis","IBGC5","PDGF-2","PDGF2","SIS","SSV"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Abnormality of neuronal migration"," Adult onset"," Anxiety"," Apathy"," Athetosis"," Autosomal dominant inheritance"," Basal ganglia calcification"," Bradykinesia"," Calcification of the small brain vessels"," Cerebral calcification"," Chorea"," Corneal opacity"," Dementia"," Dense calcifications in the cerebellar dentate nucleus"," Depressivity"," Dysarthria"," Dysdiadochokinesis"," Dyskinesia"," Dystonia"," Erythema
\n"],"pathways":["NCI: Beta3 integrin cell surface interactions
\nREACTOME: Constitutive Signaling by Aberrant PI3K in Cancer"," Disease"," Diseases of signal transduction"," Downstream signal transduction"," Extracellular matrix organization"," Hemostasis"," Intracellular signaling by second messengers
\nKEGG: Choline metabolism in cancer - Homo sapiens (human)"," EGFR tyrosine kinase inhibitor resistance - Homo sapiens (human)"," Fluid shear stress and atherosclerosis - Homo sapiens (human)"," Focal adhesion - Homo sapiens (human)"," Gap junction - Homo sapiens (human)"," Glioma - Homo sapiens (human)"," Human T-cell leukemia virus 1 infection - Homo sapiens (human)
\nWIKIPATHWAYS: Angiogenesis"," Differentiation Pathway"," ESC Pluripotency Pathways"," Focal Adhesion"," Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
\n"],"tissues":["NCBI Unigene: adult"," blastocyst"," blood"," brain"," breast (mammary gland) tumor"," colorectal tumor"," embryoid body"," embryonic tissue"," fetus"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," kidney"," kidney tumor"," liver"," liver tumor"," lung"," lung tumor"," mammary gland"," mouth"," normal"," ovarian tumor"," ovary"," pancreas"," pancreatic tumor"," placenta"," testis"," thyroid"," uterine tumor"," uterus"," vascular
\n"],"diseases":["Cancer Gene Index [CGI]: acute leukemia"," acute megakaryoblastic leukemia"," acute myeloblastic leukemia (aml)"," acute myeloid leukemia (aml)"," acute myeloid leukemias"," anaplastic astrocytoma"," astrocytoma"," b-cell lymphoma"," bednar tumor"," benign prostatic hyperplasia (bph)"," benign tumors"," bladder carcinoma"," blast phases"," brain tumors"," breast adenocarcinoma"," cancers"," canine osteosarcoma"," carcinoma
\nDISEASE DB (Univ of Copenhagen): Atherosclerosis"," Basal ganglia calcification"," Cancer
\n"]},{"id":"54209","symbol":"TREM2","description":"triggering receptor expressed on myeloid cells 2","refseqSummary":"This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012].","synonyms":["TREM-2","Trem2a","Trem2b","Trem2c"],"symptoms":["Human Phenotype Ontology: Abnormal adipose tissue morphology"," Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormal social behavior"," Abnormal upper motor neuron morphology"," Abnormality of epiphysis morphology"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abnormality of the foot"," Abnormality of the hand"," Abnormality of vision"," Abulia"," Acute leukemia"," Aggressive behavior"," Agitation"," Agnosia"," Alexia"," Amyotrophic lateral sclerosis
\n"],"pathways":["REACTOME: Adaptive Immune System"," Axon guidance"," DAP12 interactions"," DAP12 signaling"," Developmental Biology"," Immune System"," Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell"," Innate Immune System"," Other semaphorin interactions"," Semaphorin interactions
\nKEGG: Osteoclast differentiation - Homo sapiens (human)
\nWIKIPATHWAYS: Microglia Pathogen Phagocytosis Pathway
\n"],"tissues":["NCBI Unigene: adipose tissue"," adult"," brain"," cervical tumor"," cervix"," eye"," fetus"," glioma"," kidney"," lung"," mammary gland"," non-neoplasia"," normal"," ovary"," pancreas"," placenta"," prostate"," uterine tumor"," uterus
\n"],"diseases":["Cancer Gene Index [CGI]: bone cysts
\nDISEASE DB (Univ of Copenhagen): Alzheimer's disease"," Dementia"," Frontotemporal dementia
\n"]},{"id":"54664","symbol":"TMEM106B","description":"transmembrane protein 106B","refseqSummary":"none","symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormality of extrapyramidal motor function"," Abnormality of the cerebral white matter"," Abulia"," Aggressive behavior"," Alexia"," Anxiety"," Apathy"," Apraxia"," Astrocytosis"," Collectionism"," Depressivity"," Disinhibition"," Dyscalculia"," Dysgraphia"," Dyslexia"," Dysphasia"," Echolalia"," EEG with continuous slow activity"," Emotional blunting
\n"],"tissues":["NCBI Unigene: adrenal gland"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph node"," mammary gland"," mouth"," muscle
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Dementia"," Frontotemporal dementia"," Neurodegenerative disease
\n"]},{"id":"55733","symbol":"HHAT","description":"hedgehog acyltransferase","refseqSummary":"'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002].","synonyms":["MART2","SKI1","Skn"],"symptoms":["Human Phenotype Ontology: Abnormality of pelvic girdle bone morphology"," Abnormality of the shoulder"," Blepharophimosis"," Brain very small"," Broad long bones"," Chorioretinal coloboma"," Deeply set eye"," Hypoplasia of the iris"," Increased skull ossification"," Intellectual disability"," Intrauterine growth retardation"," Macrotia"," Male pseudohermaphroditism"," Microcephaly"," Micromelia"," Miosis"," Narrow chest"," Severe short stature"," Short metacarpal"," Short phalanx of finger
\n"],"pathways":["NCI: Signaling events mediated by the Hedgehog family
\nREACTOME: Disease"," Diseases of signal transduction"," Hedgehog ligand biogenesis"," Hh mutants abrogate ligand secretion"," HHAT G278V abrogates palmitoylation of Hh-Np"," Signal Transduction"," Signaling by Hedgehog
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," brain"," breast (mammary gland) tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," fetus"," germ cell tumor"," head and neck tumor"," heart"," juvenile"," lung"," mammary gland"," mouth"," muscle"," nerve"," non-neoplasia"," normal"," pancreas"," pancreatic tumor"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate"," skin"," skin tumor"," testis"," thymus"," thyroid"," trachea"," uterine tumor"," uterus
\n"],"diseases":["Cancer Gene Index [CGI]: melanoma
\nDISEASE DB (Univ of Copenhagen): agnathia-otocephaly complex"," Ancylostomiasis"," Aspergillosis"," Cystic fibrosis"," Thoracic outlet syndrome
\n"]},{"id":"5591","symbol":"PRKDC","description":"protein kinase, DNA-activated, catalytic polypeptide","refseqSummary":"This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010].","synonyms":["DNA-PKcs","DNAPK","DNPK1","HYRC","HYRC1","IMD26","p350","XRCC7"],"symptoms":["Human Phenotype Ontology: Autosomal recessive inheritance"," Brain atrophy"," Cerebellar vermis hypoplasia"," CNS hypomyelination"," Cortical gyral simplification"," Deeply set eye"," Hypoplasia of the corpus callosum"," Infantile onset"," Intrauterine growth retardation"," Long philtrum"," Low-set ears"," Microcephaly"," Micropenis"," Overlapping fingers"," Pachygyria"," Prominent forehead"," Recurrent aphthous stomatitis"," Recurrent lower respiratory tract infections"," Seizures"," Sensorineural hearing impairment
\n"],"pathways":["NCI: BARD1 signaling events"," Class I PI3K signaling events mediated by Akt"," Coregulation of Androgen receptor activity"," DNA-PK pathway in nonhomologous end joining
\nREACTOME: Cytosolic sensors of pathogen-associated DNA "," DNA Double-Strand Break Repair"," DNA Repair"," E3 ubiquitin ligases ubiquitinate target proteins"," Immune System"," Innate Immune System
\nKEGG: Cell cycle - Homo sapiens (human)
\nBIOCARTA: Cell Cycle"," FAS signaling pathway ( CD95 )"," HIV-I Nef
\nWIKIPATHWAYS: ATM Signaling Network in Development and Disease "," Cell Cycle"," Circadian rythm related genes"," DNA Damage Response"," DNA IR-damage and cellular response via ATR"," DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM"," Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx
\n"],"diseases":["Cancer Gene Index [CGI]: breast cancer"," cancer"," colorectal cancers"," glioblastoma"," glioma"," lymphoblastic lymphomas"," malignant glioma"," malignant tumor"," mammary tumor"," spontaneous mammary tumor"," tumor
\nDISEASE DB (Univ of Copenhagen): Ataxia telangiectasia"," Cancer"," DNA ligase IV deficiency"," Nijmegen breakage syndrome"," Severe combined immunodeficiency"," Werner syndrome
\nAutDB: Autism"," Rare Single Gene Mutation"," Syndromic"," Functional
\n"]},{"id":"56006","symbol":"SMG9","description":"SMG9, nonsense mediated mRNA decay factor","refseqSummary":"This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016].","synonyms":["C19orf61","F17127_1","HBMS"],"symptoms":["Human Phenotype Ontology: Abnormality of the pinna"," Anteverted nares"," Aplasia/Hypoplasia of the corpus callosum"," Autosomal recessive inheritance"," Camptodactyly of finger"," Cerebral atrophy"," Cleft lip"," Dandy-Walker malformation"," Delayed CNS myelination"," Depressed nasal bridge"," Everted lower lip vermilion"," Gastroesophageal reflux"," Generalized hypotonia"," Global brain atrophy"," Global developmental delay"," Growth delay"," Hand clenching"," High"," narrow palate"," Hyperactive deep tendon reflexes
\n"],"pathways":["REACTOME: Metabolism of RNA"," Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"," Nonsense-Mediated Decay (NMD)
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," ascites"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Microsporidiosis"," X-linked dystonia-parkinsonism
\n"]},{"id":"5663","symbol":"PSEN1","description":"presenilin 1","refseqSummary":"Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008].","synonyms":["AD3","FAD","PS-1","PS1","S182"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormal social behavior"," Abnormality of extrapyramidal motor function"," Abnormality of neutrophils"," Abnormality of the cerebral white matter"," Abnormality of vision"," Abulia"," Acne inversa"," Adult onset"," Aggressive behavior"," Agitation"," Agnosia"," Alexia"," Alzheimer disease"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Aphasia"," Apraxia"," Astrocytosis
\n"],"pathways":["REACTOME: Activated NOTCH1 Transmits Signal to the Nucleus"," Axon guidance"," Cell death signalling via NRAGE"," NRIF and NADE"," Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants"," Constitutive Signaling by NOTCH1 PEST Domain Mutants"," Death Receptor Signalling"," Degradation of the extracellular matrix"," Developmental Biology"," Disease"," Diseases of signal transduction"," EPH-ephrin mediated repulsion of cells"," EPH-Ephrin signaling"," Extracellular matrix organization"," Immune System"," Innate Immune System"," Neutrophil degranulation
\nKEGG: Alzheimer disease - Homo sapiens (human)"," Human papillomavirus infection - Homo sapiens (human)"," Neurotrophin signaling pathway - Homo sapiens (human)
\nBIOCARTA: HIV-I Nef
\nWIKIPATHWAYS: Alzheimers Disease"," Canonical and Non-canonical Notch signaling
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor
\n"],"diseases":["Cancer Gene Index [CGI]: embryonic carcinoma"," glioma"," hepatoma"," human neuroblastoma"," mouse neuroblastoma"," neuroblastoma
\nDISEASE DB (Univ of Copenhagen): Agraphia"," Alexia"," Alzheimer's disease"," Amnestic disorder"," Amyloidosis"," Aphasia"," Apraxia"," Associative agnosia"," Cancer"," Cerebrovascular disease"," Dementia"," Down syndrome"," Dyslexia"," Frontotemporal dementia"," Motor neuron disease
\n"]},{"id":"63925","symbol":"ZNF335","description":"zinc finger protein 335","refseqSummary":"The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008].","synonyms":["MCPH10","NIF-1","NIF1","NIF2"],"symptoms":["Human Phenotype Ontology: Abnormal neuron morphology"," Abnormality of the cerebellum"," Arthrogryposis multiplex congenita"," Autosomal recessive inheritance"," Brain atrophy"," Cataract"," Cerebellar atrophy"," Cerebral atrophy"," Choanal atresia"," Congenital onset"," Cortical gyral simplification"," Delayed myelination"," Gliosis"," Intrauterine growth retardation"," Microcephaly"," Micrognathia"," Profound global developmental delay"," Prominent nasal bridge"," Severe global developmental delay"," Sloping forehead
\n"],"pathways":["REACTOME: Activation of anterior HOX genes in hindbrain development during early embryogenesis"," Activation of HOX genes during differentiation"," Developmental Biology
\n"],"tissues":["NCBI Unigene: adult"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone marrow"," brain"," breast (mammary gland) tumor"," cervix"," colorectal tumor"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," intestine"," kidney"," larynx"," leukemia"," liver"," liver tumor"," lung"," lymph"," lymph node"," lymphoma"," mammary gland"," mouth"," muscle"," normal"," ovarian tumor"," ovary"," pancreas"," pancreatic tumor
\n"],"diseases":"DISEASE DB (Univ of Copenhagen): Microcephaly
\n"},{"id":"65082","symbol":"VPS33A","description":"VPS33A, CORVET/HOPS core subunit","refseqSummary":"This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017].","synonyms":"MPSPS","symptoms":["Human Phenotype Ontology: Abnormality of the foot"," Acetabular dysplasia"," Anemia"," Autosomal recessive inheritance"," Bone marrow hypocellularity"," Brain atrophy"," Cerebral calcification"," Coarse facial features"," Coarse hair"," Delayed myelination"," Dysostosis multiplex"," Epicanthus"," Flared iliac wings"," Flexion contracture"," Focal segmental glomerulosclerosis"," Global developmental delay"," Hepatomegaly"," Hirsutism"," Hypertrophic cardiomyopathy"," Infantile onset
\n"],"pathways":"WIKIPATHWAYS: Ebola Virus Pathway on Host
\n","tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph node"," lymphoma
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): ARC syndrome"," Griscelli syndrome"," Hermansky-Pudlak syndrome
\n"]},{"id":"6529","symbol":"SLC6A1","description":"solute carrier family 6 member 1","refseqSummary":"The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017].","synonyms":["GABATHG","GABATR","GAT1","MAE"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Absence seizures"," Aggressive behavior"," Ataxia"," Atonic seizures"," Autistic behavior"," Autosomal dominant inheritance"," Developmental regression"," Dysarthria"," EEG with abnormally slow frequencies"," EEG with spike-wave complexes (>3.5 Hz)"," Epileptic encephalopathy"," Eyelid myoclonus"," Febrile seizures"," Global developmental delay"," Impulsivity"," Intellectual disability"," Mental deterioration"," Myoclonic atonic seizures
\n"],"pathways":["REACTOME: GABA synthesis"," release"," reuptake and degradation"," Na+/Cl- dependent neurotransmitter transporters"," Neuronal System"," Neurotransmitter release cycle"," Reuptake of GABA"," SLC-mediated transmembrane transport"," Transmission across Chemical Synapses"," Transport of bile salts and organic acids"," metal ions and amine compounds"," Transport of small molecules
\nKEGG: GABAergic synapse - Homo sapiens (human)
\nWIKIPATHWAYS: GABA receptor Signaling"," Monoamine Transport"," NRF2 pathway"," Nuclear Receptors Meta-Pathway
\n"],"tissues":["NCBI Unigene: adult"," bladder"," bladder carcinoma"," bone"," brain"," chondrosarcoma"," embryoid body"," embryonic tissue"," fetus"," gastrointestinal tumor"," glioma"," infant"," intestine"," liver"," liver tumor"," non-neoplasia"," normal"," ovarian tumor"," pancreas"," pancreatic tumor"," parathyroid"," primitive neuroectodermal tumor of the CNS"," stomach"," testis"," thymus
\n"],"diseases":["AutDB: Autism"," Rare Single Gene Mutation"," Syndromic"," Genetic Association
\nDISEASE DB (Univ of Copenhagen): Epilepsy"," Female stress incontinence"," Glaucoma"," Lingual goiter"," Schizophrenia
\n"]},{"id":"6575","symbol":"SLC20A2","description":"solute carrier family 20 member 2","refseqSummary":"This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012].","synonyms":["GLVR-2","GLVR2","IBGC1","IBGC3","MLVAR","PIT-2","PIT2","Ram-1","RAM1"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Abnormality of neuronal migration"," Adult onset"," Athetosis"," Autosomal dominant inheritance"," Basal ganglia calcification"," Bradykinesia"," Calcification of the small brain vessels"," Cerebral calcification"," Chorea"," Corneal opacity"," Dense calcifications in the cerebellar dentate nucleus"," Depressivity"," Dysarthria"," Dysdiadochokinesis"," Dystonia"," Gait disturbance"," Hepatomegaly"," Hyperreflexia"," Intrauterine growth retardation
\n"],"pathways":["REACTOME: Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)"," Disease"," Disorders of transmembrane transporters"," SLC transporter disorders"," SLC-mediated transmembrane transport"," Sodium-coupled phosphate cotransporters"," Transport of inorganic cations/anions and amino acids/oligopeptides"," Transport of small molecules
\n"],"tissues":["NCBI Unigene: adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," blastocyst"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lymph node
\n"],"diseases":["Cancer Gene Index [CGI]: cell leukemia"," feline leukemia"," gibbon ape leukemia"," leukemia"," murine leukemia"," tumor
\nDISEASE DB (Univ of Copenhagen): Basal ganglia calcification"," Calcinosis"," Dystonia"," Hyperphosphatemia"," Hypophosphatemia"," lingual-facial-buccal dyskinesia
\n"]},{"id":"6660","symbol":"SOX5","description":"SRY-box 5","refseqSummary":"This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].","synonyms":["L-SOX5","L-SOX5B","L-SOX5F","LAMSHF"],"symptoms":["Human Phenotype Ontology: 2-3 toe syndactyly"," Abnormality of brain morphology"," Abnormality of the genital system"," Aggressive behavior"," Anxiety"," Attention deficit hyperactivity disorder"," Autosomal dominant inheritance"," Bulbous nose"," Butterfly vertebrae"," Clinodactyly"," Delayed speech and language development"," Dental crowding"," Depressed nasal bridge"," Downslanted palpebral fissures"," Epicanthus"," Exaggerated median tongue furrow"," Exotropia"," Facial asymmetry"," Feeding difficulties
\n"],"pathways":["WIKIPATHWAYS: Endochondral Ossification"," Neural Crest Differentiation"," Oligodendrocyte Specification and differentiation(including remyelination)"," leading to Myelin Components for CNS
\n"],"tissues":["NCBI Unigene: adult"," blastocyst"," blood"," brain"," connective tissue"," embryonic tissue"," eye"," fetus"," head and neck tumor"," kidney"," lung"," lung tumor"," lymph node"," mammary gland"," mouth"," non-neoplasia"," normal"," skin"," skin tumor"," soft tissue/muscle tissue tumor"," testis"," trachea"," uterine tumor"," uterus
\n"],"diseases":["AutDB: Autism"," Rare Single Gene Mutation"," Syndromic"," Genetic Association
\nDISEASE DB (Univ of Copenhagen): Azoospermia"," Campomelic dysplasia"," Leri-Weill dyschondrosteosis"," Osteoarthritis
\n"]},{"id":"6833","symbol":"ABCC8","description":"ATP binding cassette subfamily C member 8","refseqSummary":"The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].","synonyms":["ABC36","HHF1","HI","HRINS","MRP8","PHHI","SUR","SUR1","SUR1delta2","TNDM2"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal heart morphology"," Abnormality of fatty-acid metabolism"," Abnormality of the ear"," Abnormality of the immune system"," Abnormality of the pancreatic islet cells"," Agitation"," Anteverted nares"," Apraxia"," Arthrogryposis multiplex congenita"," Ataxia"," Autosomal dominant inheritance"," Autosomal recessive inheritance"," Beta-cell dysfunction"," Bilateral ptosis"," Clinodactyly"," Clinodactyly of the 4th finger"," Coma
\n"],"pathways":["NCI: FOXA2 and FOXA3 transcription factor networks
\nREACTOME: ABC transporter disorders"," ATP sensitive Potassium channels"," Defective ABCC8 can cause hypoglycemias and hyperglycemias"," Disease"," Disorders of transmembrane transporters"," Integration of energy metabolism"," Inwardly rectifying K+ channels"," Metabolism"," Neuronal System"," Potassium Channels"," Regulation of insulin secretion
\nKEGG: ABC transporters - Homo sapiens (human)"," Insulin secretion - Homo sapiens (human)"," Type II diabetes mellitus - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adult"," bone"," brain"," eye"," fetus"," glioma"," heart"," lung"," lung tumor"," mammary gland"," muscle"," non-neoplasia"," normal"," pancreas"," pancreatic tumor"," placenta"," primitive neuroectodermal tumor of the CNS
\n"],"diseases":["Cancer Gene Index [CGI]: adenomatosis"," adenomatous hyperplasia"," beta-cell tumor"," cancer"," insulinoma"," insulinomas"," islet-cell tumor
\nDISEASE DB (Univ of Copenhagen): Beckwith-Wiedemann syndrome"," Diabetes mellitus"," Epilepsy"," Hyperglycemia"," Hyperinsulinemic hypoglycemia"," Hyperinsulinism"," Hypertrichotic osteochondrodysplasia Cantu type"," Hypoglycemia"," Insulinoma"," maturity-onset diabetes of the young"," Pancreatic agenesis"," Wolcott-Rallison syndrome
\n"]},{"id":"7415","symbol":"VCP","description":"valosin containing protein","refseqSummary":"This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017].","synonyms":["CDC48","p97","TERA"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormal nerve conduction velocity"," Abnormality of calvarial morphology"," Abnormality of extrapyramidal motor function"," Abnormality of hand joint mobility"," Abnormality of long bone morphology"," Abnormality of pelvic girdle bone morphology"," Abnormality of the cerebral white matter"," Absent Achilles reflex"," Abulia"," Aggressive behavior"," Agitation"," Alexia"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Aphasia
\n"],"pathways":["REACTOME: ABC transporter disorders"," ABC-family proteins mediated transport"," Asparagine N-linked glycosylation"," Cellular response to heat stress"," Cellular responses to external stimuli"," Cellular responses to stress"," Defective CFTR causes cystic fibrosis"," Deubiquitination"," Disease"," Diseases of signal transduction"," Disorders of transmembrane transporters"," DNA Damage Bypass"," DNA Repair"," E3 ubiquitin ligases ubiquitinate target proteins"," Hedgehog ligand biogenesis"," Hh mutants abrogate ligand secretion"," Hh mutants that don't undergo autocatalytic processing are degraded by ERAD"," HSF1 activation"," Immune System"," Innate Immune System"," Josephin domain DUBs"," Metabolism of proteins
\nKEGG: Legionellosis - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor
\n"],"diseases":["Cancer Gene Index [CGI]: adenocarcinomas"," adenomas"," all"," cancer"," cancers"," carcinogenesis"," childhood all"," clinical breast cancer"," colorectal adenocarcinoma"," colorectal carcinoma"," colorectal carcinomas"," differentiated thyroid carcinoma"," escc"," esophageal carcinoma"," follicular thyroid cancer"," follicular thyroid carcinoma
\nDISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Aphasia"," Cancer"," Dementia"," Frontotemporal dementia
\n"]},{"id":"7737","symbol":"RNF113A","description":"ring finger protein 113A","refseqSummary":"This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010].","synonyms":["Cwc24","RNF113","TTD5","ZNF183"],"symptoms":["Human Phenotype Ontology: Brittle hair"," Cerebellar hypoplasia"," Chronic diarrhea"," Cutaneous photosensitivity"," Cutis marmorata"," Dandy-Walker malformation"," Decreased antibody level in blood"," Global brain atrophy"," High forehead"," Intellectual disability"," Intellectual disability"," profound"," Intrauterine growth retardation"," Mandibular prognathia"," Microcephaly"," Micropenis"," Optic nerve hypoplasia"," Progeroid facial appearance"," Progressive microcephaly"," Recurrent infections"," Retinal dystrophy
\n"],"tissues":["NCBI Unigene: adult"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymphoma"," mammary gland"," nerve"," non-neoplasia"," normal
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Panhypopituitarism"," Photosensitive trichothiodystrophy
\n"]},{"id":"79796","symbol":"ALG9","description":"ALG9, alpha-1,2-mannosyltransferase","refseqSummary":"This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].","synonyms":["CDG1L","DIBD1","GIKANIS","LOH11CR1J"],"symptoms":["Human Phenotype Ontology: Abnormal heart morphology"," Abnormal lung lobation"," Autosomal recessive inheritance"," Brachycephaly"," Cognitive impairment"," Congenital diaphragmatic hernia"," Congenital onset"," Convex nasal ridge"," Delayed CNS myelination"," Esotropia"," Failure to thrive"," Flexion contracture"," Generalized hypotonia"," Global brain atrophy"," Global developmental delay"," Hepatic failure"," Hepatosplenomegaly"," Hypertelorism"," Inverted nipples"," Large fleshy ears
\n"],"pathways":["REACTOME: Asparagine N-linked glycosylation"," Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide"," LLO) and transfer to a nascent protein"," Defective ALG9 causes ALG9-CDG (CDG-1l)"," Disease"," Diseases associated with N-glycosylation of proteins"," Diseases of glycosylation"," Metabolism of proteins"," Post-translational protein modification
\nKEGG: Metabolic pathways - Homo sapiens (human)"," N-Glycan biosynthesis - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adrenal gland"," adult"," bladder"," bladder carcinoma"," blood"," bone"," bone marrow"," brain"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph"," lymph node"," lymphoma
\n"],"diseases":"DISEASE DB (Univ of Copenhagen): Congenital disorder of glycosylation
\n"},{"id":"79868","symbol":"ALG13","description":"ALG13, UDP-N-acetylglucosaminyltransferase subunit","refseqSummary":"The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009].","synonyms":["CDG1S","CXorf45","EIEE36","GLT28D1","MDS031","TDRD13","YGL047W"],"symptoms":["Human Phenotype Ontology: Abnormal facial shape"," Abnormal pyramidal signs"," Abnormality of extrapyramidal motor function"," Abnormality of lateral ventricle"," Adducted thumb"," Anteverted nares"," Autism"," Cerebral atrophy"," Clumsiness"," Cognitive impairment"," Decreased body weight"," Delayed myelination"," Delayed speech and language development"," Flexion contracture"," Generalized hypotonia"," Global brain atrophy"," Global developmental delay"," Hepatomegaly"," Horizontal nystagmus"," Hydrocephalus
\n"],"pathways":["REACTOME: Asparagine N-linked glycosylation"," Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide"," LLO) and transfer to a nascent protein"," Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)"," Disease"," Diseases associated with N-glycosylation of proteins"," Diseases of glycosylation"," Metabolism of proteins"," Post-translational protein modification
\nKEGG: Metabolic pathways - Homo sapiens (human)"," N-Glycan biosynthesis - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone marrow"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," intestine"," kidney"," leukemia"," liver"," lung"," lymph node"," lymphoma"," mammary gland"," mouth"," muscle"," non-neoplasia"," normal
\n"],"diseases":"DISEASE DB (Univ of Copenhagen): Epilepsy
\n"},{"id":"79944","symbol":"L2HGDH","description":"L-2-hydroxyglutarate dehydrogenase","refseqSummary":"This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008].","synonyms":["C14orf160","L2HGA"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Abnormality of extrapyramidal motor function"," Aplasia/Hypoplasia of the cerebellum"," Autosomal recessive inheritance"," Behavioral abnormality"," Cerebellar atrophy"," Corpus callosum atrophy"," Developmental regression"," Dysphasia"," Encephalitis"," Gliosis"," Global brain atrophy"," Hearing impairment"," Infantile onset"," Intellectual disability"," progressive"," Intellectual disability"," severe"," L-2-hydroxyglutaric acidemia"," L-2-hydroxyglutaric aciduria"," Leukoencephalopathy
\n"],"pathways":["REACTOME: Interconversion of 2-oxoglutarate and 2-hydroxyglutarate"," Metabolism"," Pyruvate metabolism and Citric Acid (TCA) cycle"," The citric acid (TCA) cycle and respiratory electron transport
\nKEGG: Butanoate metabolism - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adult"," blastocyst"," blood"," bone"," brain"," cervical tumor"," cervix"," chondrosarcoma"," embryoid body"," embryonic tissue"," esophagus"," eye"," fetus"," germ cell tumor"," glioma"," head and neck tumor"," infant"," intestine"," kidney"," kidney tumor"," leukemia"," liver"," lung"," lung tumor"," lymph"," lymphoma"," mouth"," muscle"," nerve"," non-neoplasia"," normal"," pharynx"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate"," retinoblastoma"," skin
\n"],"diseases":["Cancer Gene Index [CGI]: brain tumors
\nDISEASE DB (Univ of Copenhagen): alcohol-related neurodevelopmental disorder"," Cerebellar ataxia"," D-2-hydroxyglutaric aciduria"," Epilepsy"," L-2-hydroxyglutaric aciduria"," Organic acidemia
\n"]},{"id":"84942","symbol":"WDR73","description":"WD repeat domain 73","refseqSummary":"The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015].","synonyms":["GAMOS","GAMOS1","HSPC264"],"symptoms":["Human Phenotype Ontology: Abnormality of immune system physiology"," Abnormality of the dentition"," Abnormality of the intervertebral disk"," Abnormality of the skin"," Adducted thumb"," Aplasia/Hypoplasia of the cerebellum"," Aqueductal stenosis"," Ataxia"," Autosomal recessive inheritance"," Brain atrophy"," Camptodactyly"," Camptodactyly of finger"," Cataract"," Cerebellar atrophy"," Cerebral atrophy"," Cognitive impairment"," Dandy-Walker malformation"," Delayed speech and language development"," Diffuse mesangial sclerosis
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," ascites"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor"," lymph
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Bladder calculus"," Galloway-Mowat syndrome"," Hiatus hernia"," Microcephaly"," Nephrotic syndrome
\n"]},{"id":"84947","symbol":"SERAC1","description":"serine active site containing 1","refseqSummary":"The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012].","symptoms":["Human Phenotype Ontology: 3-Methylglutaconic aciduria"," Abnormality of extrapyramidal motor function"," Abnormality of the coagulation cascade"," Autosomal recessive inheritance"," Brain atrophy"," Cerebellar atrophy"," Developmental regression"," Dystonia"," Encephalopathy"," Failure to thrive"," Feeding difficulties"," Generalized hypotonia"," Global developmental delay"," Hyperammonemia"," Hypoglycemia"," Increased serum lactate"," Intellectual disability"," Lactic acidosis"," Microcephaly"," Neonatal sepsis
\n"],"tissues":["NCBI Unigene: adult"," blastocyst"," blood"," brain"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," germ cell tumor"," heart"," intestine"," kidney"," kidney tumor"," lung"," lung tumor"," muscle"," neonate"," non-neoplasia"," normal"," ovary"," pancreas"," pancreatic tumor"," placenta"," prostate"," prostate cancer"," retinoblastoma"," spleen"," testis"," thymus"," trachea"," uterine tumor"," uterus"," vascular
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): 3-methylglutaconic aciduria"," Barth syndrome"," Deafness dystonia syndrome"," Dystonia"," Leigh disease"," Sengers syndrome"," Sensorineural hearing loss
\n"]},{"id":"85476","symbol":"GFM1","description":"G elongation factor mitochondrial 1","refseqSummary":"Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008].","synonyms":["COXPD1","EFG","EFG1","EFGM","EGF1","GFM","hEFG1"],"symptoms":["Human Phenotype Ontology: Autosomal recessive inheritance"," Basal ganglia cysts"," Cholestasis"," Congenital onset"," Delayed myelination"," Feeding difficulties"," Fulminant hepatic failure"," Global brain atrophy"," Hepatomegaly"," Hyperreflexia"," Hypokinesia"," Hypoplasia of the corpus callosum"," Increased CSF lactate"," Increased serum lactate"," Intrauterine growth retardation"," Metabolic acidosis"," Microcephaly"," Motor delay"," Muscular hypotonia of the trunk"," Nystagmus
\n"],"pathways":["REACTOME: Metabolism of proteins"," Mitochondrial translation"," Mitochondrial translation elongation"," Translation
\n"],"tissues":["NCBI Unigene: adrenal gland"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Candidiasis"," Combined oxidative phosphorylation deficiency"," Denture stomatitis"," Hemophilia B"," Kidney cortex necrosis
\n"]},{"id":"8867","symbol":"SYNJ1","description":"synaptojanin 1","refseqSummary":"This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].","synonyms":["EIEE53","INPP5G","PARK20"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Akinesia"," Anarthria"," Autosomal recessive inheritance"," Bradykinesia"," Brain atrophy"," Dysarthria"," Dystonia"," Elevated serum creatine phosphokinase"," Epileptic encephalopathy"," Eyelid apraxia"," Fatigue"," Feeding difficulties"," Gait ataxia"," Generalized hypotonia"," Hypomimic face"," Hypoplasia of the corpus callosum"," Hyporeflexia"," Inability to walk"," Increased serum lactate"," Intellectual disability
\n"],"pathways":["NCI: EPHB forward signaling"," Internalization of ErbB1
\nREACTOME: Clathrin-mediated endocytosis"," Inositol phosphate metabolism"," Membrane Trafficking"," Metabolism"," Metabolism of lipids"," Phospholipid metabolism"," PI Metabolism"," Synthesis of IP2"," IP"," and Ins in the cytosol"," Synthesis of IP3 and IP4 in the cytosol"," Synthesis of PIPs at the plasma membrane"," Vesicle-mediated transport
\nKEGG: Inositol phosphate metabolism - Homo sapiens (human)"," Metabolic pathways - Homo sapiens (human)"," Phosphatidylinositol signaling system - Homo sapiens (human)
\nBIOCARTA: Endocytotic role of NDK"," Phosphins and Dynamin
\nWIKIPATHWAYS: EGF/EGFR Signaling Pathway
\n"],"tissues":["NCBI Unigene: adult"," bladder"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," intestine"," juvenile"," kidney"," kidney tumor"," leukemia"," lung"," lung tumor"," lymph"," lymphoma"," mammary gland"," mouth"," muscle"," nerve"," non-neoplasia"," normal"," ovarian tumor"," ovary"," pancreas"," pituitary gland"," placenta
\n"],"diseases":["AutDB: Autism"," Rare Single Gene Mutation
\nDISEASE DB (Univ of Copenhagen): Down syndrome"," Dystonia"," Oculocerebrorenal syndrome"," Parkinson's disease
\n"]},{"id":"8878","symbol":"SQSTM1","description":"sequestosome 1","refseqSummary":"This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009].","synonyms":["A170","DMRV","FTDALS3","NADGP","OSIL","p60","p62","p62B","PDB3","ZIP3"],"symptoms":["Human Phenotype Ontology: Abnormal brain FDG positron emission tomography"," Abnormal lower motor neuron morphology"," Abnormal pyramidal signs"," Abnormality of extrapyramidal motor function"," Abnormality of pelvic girdle bone morphology"," Abnormality of the cerebral white matter"," Abnormality of the right hemidiaphragm"," Absent Achilles reflex"," Abulia"," Aggressive behavior"," Agitation"," Amyotrophic lateral sclerosis"," Anxiety"," Apathy"," Astrocytosis"," Autosomal dominant inheritance"," Autosomal recessive inheritance"," Bilateral conductive hearing impairment
\n"],"pathways":["NCI: IL1-mediated signaling events"," Neurotrophic factor-mediated Trk receptor signaling
\nREACTOME: Cell death signalling via NRAGE"," NRIF and NADE"," Cytokine Signaling in Immune system"," Death Receptor Signalling"," Immune System"," Interleukin-1 family signaling"," Interleukin-1 signaling"," Mitophagy"," NF-kB is activated and signals survival"," NRIF signals cell death from the nucleus
\nKEGG: Cellular senescence - Homo sapiens (human)"," Fluid shear stress and atherosclerosis - Homo sapiens (human)"," Mitophagy - animal - Homo sapiens (human)"," Necroptosis - Homo sapiens (human)
\nWIKIPATHWAYS: Apoptosis-related network due to altered Notch3 in ovarian cancer"," Brain-Derived Neurotrophic Factor (BDNF) signaling pathway"," IL-1 signaling pathway"," Interleukin-1 Induced Activation of NF-kappa-B"," NRF2 pathway
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor
\n"],"diseases":["Cancer Gene Index [CGI]: breast cancer"," breast tumors"," chronic phase cml"," hepatocellular carcinoma"," human neuroblastoma"," icc"," paget disease"," paget's disease"," t-cell leukemia
\nDISEASE DB (Univ of Copenhagen): Amyotrophic lateral sclerosis"," Cancer"," Frontotemporal dementia"," Myopathy"," Paget's disease of bone
\n"]},{"id":"9255","symbol":"AIMP1","description":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","refseqSummary":"The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008].","synonyms":["EMAP2","EMAPII","HLD3","p43","SCYE1"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Arthrogryposis multiplex congenita"," Autosomal recessive inheritance"," Coarse facial features"," Corpus callosum atrophy"," Death in infancy"," Diffuse cerebral sclerosis"," EEG abnormality"," Failure to thrive"," Global brain atrophy"," Global developmental delay"," Kyphoscoliosis"," Leukodystrophy"," Microcephaly"," Muscular hypotonia of the trunk"," Premature birth"," Progressive"," Progressive flexion contractures"," Projectile vomiting"," Seizures
\n"],"pathways":["REACTOME: Cytosolic tRNA aminoacylation"," Metabolism"," Metabolism of amino acids and derivatives"," Metabolism of proteins"," Selenoamino acid metabolism"," SeMet incorporation into proteins"," Translation"," tRNA Aminoacylation
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adrenal tumor"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," ear"," embryoid body"," embryonic tissue"," esophageal tumor"," esophagus"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," juvenile"," kidney"," kidney tumor"," larynx
\n"],"diseases":["Cancer Gene Index [CGI]: b16 melanoma"," b16 melanomas"," breast cancer"," cancer"," colorectal cancer"," colorectal carcinoma"," cyst"," epithelial cyst"," fibrosarcoma"," fibrosarcomas"," glioblastoma"," glioblastomas"," hcc"," hepatocellular carcinoma"," human breast carcinoma"," human stomach cancer"," human tumors"," lewis lung carcinoma"," lewis lung carcinomas"," lung cancer"," lymphoma"," melanoma"," melanomas
\nDISEASE DB (Univ of Copenhagen): Cancer
\n"]},{"id":"94","symbol":"ACVRL1","description":"activin A receptor like type 1","refseqSummary":"This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008].","synonyms":["ACVRLK1","ALK-1","ALK1","HHT","HHT2","ORW2","SKR3","TSR-I"],"symptoms":["Human Phenotype Ontology: Amblyopia"," Anemia"," Autosomal dominant inheritance"," Brain abscess"," Cavernous hemangioma"," Cerebral arteriovenous malformation"," Cerebral hemorrhage"," Cholecystitis"," Cholelithiasis"," Choriocapillaris atrophy"," Cirrhosis"," Clubbing"," Congestive heart failure"," Conjunctival telangiectasia"," Cyanosis"," Dyspnea"," Epistaxis"," Esophageal varix"," Fingerpad telangiectases"," Gastrointestinal angiodysplasia"," Gastrointestinal arteriovenous malformation
\n"],"pathways":["NCI: ALK1 pathway"," ALK1 signaling events
\nREACTOME: Signal Transduction"," Signaling by BMP"," Signaling by TGF-beta family members
\nKEGG: Cytokine-cytokine receptor interaction - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adipose tissue"," adult"," bladder carcinoma"," bone"," brain"," breast (mammary gland) tumor"," chondrosarcoma"," colorectal tumor"," connective tissue"," eye"," fetus"," germ cell tumor"," heart"," intestine"," kidney"," liver"," lung"," mammary gland"," mouth"," muscle"," neonate"," non-neoplasia"," normal"," parathyroid"," placenta"," primitive neuroectodermal tumor of the CNS"," prostate"," skin"," soft tissue/muscle tissue tumor"," spleen"," thymus"," thyroid"," umbilical cord"," uterus"," vascular
\n"],"diseases":["Cancer Gene Index [CGI]: arteriovenous malformations"," breast cancer"," cancer"," pancreas cancers"," pancreatic cancer"," polyposis"," tumor"," tumor angiogenesis
\nDISEASE DB (Univ of Copenhagen): Angiodysplasia"," Arteriovenous malformation"," Heart disease"," Hereditary hemorrhagic telangiectasia"," Hypertension"," Lung disease"," Pericardial effusion"," Systemic scleroderma"," Telangiectasis
\n"]},{"id":"9640","symbol":"ZNF592","description":"zinc finger protein 592","refseqSummary":"This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011].","synonyms":["CAMOS","SCAR5"],"symptoms":["Human Phenotype Ontology: Abnormality of the skin"," Aplasia/Hypoplasia of the cerebellum"," Ataxia"," Autosomal recessive inheritance"," Brain atrophy"," Camptodactyly"," Cataract"," Cerebellar atrophy"," Cerebral atrophy"," Dandy-Walker malformation"," Delayed speech and language development"," Diffuse mesangial sclerosis"," Dysarthria"," Dystonia"," Epicanthus"," Feeding difficulties"," Flat occiput"," Focal segmental glomerulosclerosis"," Global developmental delay"," Hand clenching
\n"],"tissues":["NCBI Unigene: adipose tissue"," adrenal gland"," adult"," ascites"," bladder"," bladder carcinoma"," blastocyst"," blood"," bone"," bone marrow"," brain"," breast (mammary gland) tumor"," cervical tumor"," cervix"," chondrosarcoma"," colorectal tumor"," connective tissue"," embryoid body"," embryonic tissue"," eye"," fetus"," gastrointestinal tumor"," germ cell tumor"," glioma"," head and neck tumor"," heart"," infant"," intestine"," kidney"," kidney tumor"," larynx"," leukemia"," liver"," liver tumor"," lung"," lung tumor
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Cervical adenosquamous carcinoma"," Dyscalculia"," Galloway-Mowat syndrome"," Osteoporosis
\n"]},{"id":"9829","symbol":"DNAJC6","description":"DnaJ heat shock protein family (Hsp40) member C6","refseqSummary":"DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008].","synonyms":["DJC6","PARK19"],"symptoms":["Human Phenotype Ontology: Abnormal pyramidal signs"," Akinesia"," Anarthria"," Autosomal recessive inheritance"," Bradykinesia"," Brain atrophy"," Cognitive impairment"," Dysarthria"," Dystonia"," Fatigue"," Gait ataxia"," Hallucinations"," Hypometric saccades"," Hypomimic face"," Hyporeflexia"," Inability to walk"," Intellectual disability"," Leg muscle stiffness"," Myoclonus"," Parkinsonism"," Pes cavus"," Postural instability
\n"],"pathways":["REACTOME: Clathrin derived vesicle budding"," Clathrin-mediated endocytosis"," Golgi Associated Vesicle Biogenesis"," Lysosome Vesicle Biogenesis"," Membrane Trafficking"," trans-Golgi Network Vesicle Budding"," Vesicle-mediated transport
\nKEGG: Endocytosis - Homo sapiens (human)
\n"],"tissues":["NCBI Unigene: adult"," bone marrow"," brain"," breast (mammary gland) tumor"," colorectal tumor"," embryoid body"," embryonic tissue"," eye"," fetus"," germ cell tumor"," glioma"," heart"," intestine"," juvenile"," kidney"," kidney tumor"," liver"," lung"," lung tumor"," lymph"," lymphoma"," mammary gland"," muscle"," nerve"," non-neoplasia"," normal"," ovarian tumor"," pancreas"," pituitary gland"," placenta"," skin"," testis
\n"],"diseases":["DISEASE DB (Univ of Copenhagen): Autosomal dominant Robinow syndrome 2"," Cataract 8 multiple types"," Parkinson's disease"," Spinocerebellar ataxia type 5
\n"]}]}