TaoMedAI/RareMedData huggingface dataset:
Rare disease: MODY (Orphanet code 552)
Associated genes:
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Name: carboxyl ester lipase
Symbol: CEL
Synonyms: lang: en
text: BSSL
lang: en
text: MODY8
lang: en
text: bile salt-stimulated lipase
GeneType: Name: gene with protein product
Name: glucokinase
Symbol: GCK
Synonyms: lang: en
text: HK4
lang: en
text: hexokinase 4
GeneType: Name: gene with protein product
Name: hepatocyte nuclear factor 4 alpha
Symbol: HNF4A
Synonyms: lang: en
text: HNF4
lang: en
text: NR2A1
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Name: KLF transcription factor 11
Symbol: KLF11
Synonyms: lang: en
text: FKLF
lang: en
text: MODY7
lang: en
text: Tieg3
GeneType: Name: gene with protein product
Name: neuronal differentiation 1
Symbol: NEUROD1
Synonyms: lang: en
text: BETA2
lang: en
text: BHF-1
lang: en
text: MODY6
lang: en
text: NeuroD
lang: en
text: bHLHa3
lang: en
text: beta-cell E-box transactivator 2
lang: en
text: neurogenic helix-loop-helix protein NEUROD
GeneType: Name: gene with protein product
Name: pancreatic and duodenal homeobox 1
Symbol: PDX1
Synonyms: lang: en
text: GSF
lang: en
text: Glucose-sensitive factor
lang: en
text: IDX-1
lang: en
text: IUF-1
lang: en
text: Islet/duodenum homeobox-1
lang: en
text: MODY4
lang: en
text: PDX-1
lang: en
text: STF-1
lang: en
text: insulin upstream factor 1
lang: en
text: somatostatin transcription factor 1
GeneType: Name: gene with protein product
Name: HNF1 homeobox A
Symbol: HNF1A
Synonyms: lang: en
text: HNF1
lang: en
text: HNF1a
lang: en
text: LFB1
GeneType: Name: gene with protein product
Name: insulin
Symbol: INS
GeneType: Name: gene with protein product
Name: paired box 4
Symbol: PAX4
Synonyms: lang: en
text: MODY9
lang: en
text: Paired box protein Pax-4
GeneType: Name: gene with protein product
Name: BLK proto-oncogene, Src family tyrosine kinase
Symbol: BLK
Synonyms: lang: en
text: MGC10442
GeneType: Name: gene with protein product
Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Symbol: APPL1
Synonyms: lang: en
text: APPL
lang: en
text: DCC-interacting protein 13-alpha
GeneType: Name: gene with protein product
Rare disease: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency (Orphanet code 443087)
Associated genes:
Name: aldo-keto reductase family 1 member C2
Symbol: AKR1C2
Synonyms: lang: en
text: BABP
lang: en
text: DD
lang: en
text: DD2
lang: en
text: HAKRD
lang: en
text: MCDR2
lang: en
text: dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III
GeneType: Name: gene with protein product
Name: aldo-keto reductase family 1 member C4
Symbol: AKR1C4
Synonyms: lang: en
text: 3-alpha hydroxysteroid dehydrogenase, type I
lang: en
text: 3-alpha-HSD
lang: en
text: C11
lang: en
text: CDR
lang: en
text: DD4
lang: en
text: HAKRA
lang: en
text: MGC22581
lang: en
text: chlordecone reductase
lang: en
text: chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
lang: en
text: dihydrodiol dehydrogenase 4
GeneType: Name: gene with protein product
Rare disease: NUT midline carcinoma (Orphanet code 443167)
Associated genes:
Name: NUT midline carcinoma family member 1
Symbol: NUTM1
Synonyms: lang: en
text: DKFZp434O192
lang: en
text: FAM22H
lang: en
text: NUT
lang: en
text: nuclear protein in testis
GeneType: Name: gene with protein product
Name: bromodomain containing 4
Symbol: BRD4
Synonyms: lang: en
text: CAP
lang: en
text: FSHRG4
lang: en
text: HUNK1
lang: en
text: HUNKI
lang: en
text: MCAP
lang: en
text: chromosome-associated protein
lang: en
text: female sterile homeotic related gene 4
lang: en
text: mitotic chromosome-associated protein
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet code 277)
Associated genes:
Name: adenosine deaminase
Symbol: ADA
Synonyms: lang: en
text: ADA1
GeneType: Name: gene with protein product
Rare disease: NDE1-related microhydranencephaly (Orphanet code 443162)
Associated genes:
Name: nudE neurodevelopment protein 1
Symbol: NDE1
Synonyms: lang: en
text: FLJ20101
lang: en
text: NDE
lang: en
text: NUDE
lang: en
text: nudE
GeneType: Name: gene with protein product
Rare disease: PGM3-CDG (Orphanet code 443811)
Associated genes:
Name: phosphoglucomutase 3
Symbol: PGM3
Synonyms: lang: en
text: AGM1
lang: en
text: DKFZP434B187
lang: en
text: PAGM
lang: en
text: acetylglucosamine phosphomutase
lang: en
text: phosphoacetylglucosamine mutase
GeneType: Name: gene with protein product
Rare disease: DNAJB2-related Charcot-Marie-Tooth disease type 2 (Orphanet code 443950)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member B2
Symbol: DNAJB2
Synonyms: lang: en
text: CMT2T
lang: en
text: HSPF3
GeneType: Name: gene with protein product
Rare disease: Ventriculomegaly-cystic kidney disease (Orphanet code 443988)
Associated genes:
Name: crumbs cell polarity complex component 2
Symbol: CRB2
Synonyms: lang: en
text: FLJ16786
lang: en
text: FLJ38464
GeneType: Name: gene with protein product
Rare disease: Autoimmune interstitial lung disease-arthritis syndrome (Orphanet code 444092)
Associated genes:
Name: COPI coat complex subunit alpha
Symbol: COPA
Synonyms: lang: en
text: HEP-COP
lang: en
text: proxenin
lang: en
text: xenin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 73 (Orphanet code 444099)
Associated genes:
Name: carnitine palmitoyltransferase 1C
Symbol: CPT1C
Synonyms: lang: en
text: CATL1
lang: en
text: CPT1P
lang: en
text: CPTIC
lang: en
text: FLJ23809
GeneType: Name: gene with protein product
Rare disease: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome (Orphanet code 444138)
Associated genes:
Name: calpastatin
Symbol: CAST
GeneType: Name: gene with protein product
Rare disease: Mandibulofacial dysostosis with alopecia (Orphanet code 443995)
Associated genes:
Name: endothelin receptor type A
Symbol: EDNRA
Synonyms: lang: en
text: ET-A
lang: en
text: ETA-R
lang: en
text: hET-AR
GeneType: Name: gene with protein product
Rare disease: 46,XX ovarian dysgenesis-short stature syndrome (Orphanet code 444048)
Associated genes:
Name: minichromosome maintenance 9 homologous recombination repair factor
Symbol: MCM9
Synonyms: lang: en
text: FLJ20170
lang: en
text: MGC35304
lang: en
text: dJ329L24.3
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 23 (Orphanet code 444013)
Associated genes:
Name: GTP binding protein 3, mitochondrial
Symbol: GTPBP3
Synonyms: lang: en
text: FLJ14700
lang: en
text: GTPBG3
lang: en
text: MSS1
lang: en
text: MTGP1
lang: en
text: THDF1
GeneType: Name: gene with protein product
Rare disease: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome (Orphanet code 444069)
Associated genes:
Name: centromere protein F
Symbol: CENPF
Synonyms: lang: en
text: hcp-1
lang: en
text: mitosin
GeneType: Name: gene with protein product
Rare disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome (Orphanet code 444077)
Associated genes:
Name: ALF transcription elongation factor 4
Symbol: AFF4
Synonyms: lang: en
text: AF5Q31
lang: en
text: ALL1 fused gene from 5q31
lang: en
text: MCEF
GeneType: Name: gene with protein product
Rare disease: Cerebellar-facial-dental syndrome (Orphanet code 444072)
Associated genes:
Name: BRF1 RNA polymerase III transcription initiation factor subunit
Symbol: BRF1
Synonyms: lang: en
text: BRF
lang: en
text: TFIIIB90
lang: en
text: hBRF
GeneType: Name: gene with protein product
Rare disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency (Orphanet code 444463)
Associated genes:
Name: tripeptidyl peptidase 2
Symbol: TPP2
Synonyms: lang: en
text: TPPII
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 24 (Orphanet code 444458)
Associated genes:
Name: asparaginyl-tRNA synthetase 2, mitochondrial
Symbol: NARS2
Synonyms: lang: en
text: FLJ23441
lang: en
text: SLM5
lang: en
text: asparagine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Rare disease: Limb-girdle muscular dystrophy due to POMK deficiency (Orphanet code 445110)
Associated genes:
Name: protein O-mannose kinase
Symbol: POMK
Synonyms: lang: en
text: FLJ23356
lang: en
text: SGK196
lang: en
text: SgK196
GeneType: Name: gene with protein product
Rare disease: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome (Orphanet code 445062)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member C3
Symbol: DNAJC3
Synonyms: lang: en
text: ERdj6
lang: en
text: HP58
lang: en
text: P58
lang: en
text: P58IPK
lang: en
text: endoplasmic reticulum DNA J domain-containing protein 6
lang: en
text: interferon-induced, double-stranded RNA-activated protein kinase inhibitor
lang: en
text: p58(IPK)
lang: en
text: protein kinase inhibitor of 58 kDa
GeneType: Name: gene with protein product
Rare disease: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (Orphanet code 445038)
Associated genes:
Name: ClpB family mitochondrial disaggregase
Symbol: CLPB
Synonyms: lang: en
text: ANKCLP
lang: en
text: FLJ13152
lang: en
text: SKD3
lang: en
text: ankyrin-repeat containing bacterial clp fusion
lang: en
text: suppressor of potassium transport defect 3
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to LRBA deficiency (Orphanet code 445018)
Associated genes:
Name: LPS responsive beige-like anchor protein
Symbol: LRBA
Synonyms: lang: en
text: BGL
lang: en
text: LAB300
lang: en
text: LBA
lang: en
text: uc.147
GeneType: Name: gene with protein product
Rare disease: NIK deficiency (Orphanet code 447731)
Associated genes:
Name: mitogen-activated protein kinase kinase kinase 14
Symbol: MAP3K14
Synonyms: lang: en
text: FTDCR1B
lang: en
text: HS
lang: en
text: HSNIK
lang: en
text: NIK
lang: en
text: serine/threonine protein-kinase
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to DOCK2 deficiency (Orphanet code 447737)
Associated genes:
Name: dedicator of cytokinesis 2
Symbol: DOCK2
Synonyms: lang: en
text: KIAA0209
GeneType: Name: gene with protein product
Rare disease: Susceptibility to localized juvenile periodontitis (Orphanet code 447740)
Associated genes:
Name: formyl peptide receptor 1
Symbol: FPR1
Synonyms: lang: en
text: FMLP
lang: en
text: FPR
lang: en
text: N-formylpeptide receptor
lang: en
text: fMet-Leu-Phe receptor
GeneType: Name: gene with protein product
Rare disease: Polymerase proofreading-related adenomatous polyposis (Orphanet code 447877)
Associated genes:
Name: DNA polymerase epsilon, catalytic subunit
Symbol: POLE
Synonyms: lang: en
text: DNA polymerase epsilon catalytic subunit A
lang: en
text: POLE1
GeneType: Name: gene with protein product
Name: DNA polymerase delta 1, catalytic subunit
Symbol: POLD1
Synonyms: lang: en
text: CDC2
lang: en
text: CDC2 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Rare disease: Tremor-ataxia-central hypomyelination syndrome (Orphanet code 447896)
Associated genes:
Name: RNA polymerase III subunit A
Symbol: POLR3A
Synonyms: lang: en
text: C160
lang: en
text: RPC1
lang: en
text: RPC155
lang: en
text: hRPC155
GeneType: Name: gene with protein product
Rare disease: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (Orphanet code 447893)
Associated genes:
Name: RNA polymerase III subunit A
Symbol: POLR3A
Synonyms: lang: en
text: C160
lang: en
text: RPC1
lang: en
text: RPC155
lang: en
text: hRPC155
GeneType: Name: gene with protein product
Rare disease: Mitochondrial pyruvate carrier deficiency (Orphanet code 447784)
Associated genes:
Name: mitochondrial pyruvate carrier 1
Symbol: MPC1
Synonyms: lang: en
text: CGI-129
lang: en
text: SLC54A1
lang: en
text: dJ68L15.3
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 9B (Orphanet code 447757)
Associated genes:
Name: aldehyde dehydrogenase 18 family member A1
Symbol: ALDH18A1
Synonyms: lang: en
text: P5CS
lang: en
text: delta-1-pyrroline-5-carboxylate synthase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 9A (Orphanet code 447753)
Associated genes:
Name: aldehyde dehydrogenase 18 family member A1
Symbol: ALDH18A1
Synonyms: lang: en
text: P5CS
lang: en
text: delta-1-pyrroline-5-carboxylate synthase
GeneType: Name: gene with protein product
Name: fatty acyl-CoA reductase 1
Symbol: FAR1
Synonyms: lang: en
text: FLJ22728
lang: en
text: SDR10E1
lang: en
text: short chain dehydrogenase/reductase family 10E, member 1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 9B (Orphanet code 447760)
Associated genes:
Name: aldehyde dehydrogenase 18 family member A1
Symbol: ALDH18A1
Synonyms: lang: en
text: P5CS
lang: en
text: delta-1-pyrroline-5-carboxylate synthase
GeneType: Name: gene with protein product
Rare disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (Orphanet code 412066)
Associated genes:
Name: protein kinase cAMP-dependent type I regulatory subunit beta
Symbol: PRKAR1B
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia due to STUB1 deficiency (Orphanet code 412057)
Associated genes:
Name: STIP1 homology and U-box containing protein 1
Symbol: STUB1
Synonyms: lang: en
text: CHIP
lang: en
text: HSPABP2
lang: en
text: NY-CO-7
lang: en
text: SDCCAG7
lang: en
text: UBOX1
GeneType: Name: gene with protein product
Rare disease: Epidermolysis bullosa simplex due to BP230 deficiency (Orphanet code 412181)
Associated genes:
Name: dystonin
Symbol: DST
Synonyms: lang: en
text: BP240
lang: en
text: BPA
lang: en
text: CATX-15
lang: en
text: FLJ13425
lang: en
text: FLJ21489
lang: en
text: FLJ30627
lang: en
text: FLJ32235
lang: en
text: KIAA0728
lang: en
text: MACF2
GeneType: Name: gene with protein product
Rare disease: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (Orphanet code 412069)
Associated genes:
Name: AT-hook DNA binding motif containing 1
Symbol: AHDC1
Synonyms: lang: en
text: DJ159A19.3
lang: en
text: RP1-159A19.1
GeneType: Name: gene with protein product
Rare disease: Epidermolysis bullosa simplex due to exophilin 5 deficiency (Orphanet code 412189)
Associated genes:
Name: exophilin 5
Symbol: EXPH5
Synonyms: lang: en
text: SLAC2-B
lang: en
text: synaptotagmin-like homologue lacking C2 domains b
GeneType: Name: gene with protein product
Rare disease: Primary failure of tooth eruption (Orphanet code 412206)
Associated genes:
Name: parathyroid hormone 1 receptor
Symbol: PTH1R
GeneType: Name: gene with protein product
Rare disease: Malan overgrowth syndrome (Orphanet code 420179)
Associated genes:
Name: nuclear factor I X
Symbol: NFIX
Synonyms: lang: en
text: CCAAT-binding transcription factor
lang: en
text: NF1A
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency (Orphanet code 420702)
Associated genes:
Name: colony stimulating factor 3 receptor
Symbol: CSF3R
Synonyms: lang: en
text: G-CSF-R
lang: en
text: GCSFR
lang: en
text: granulocyte colony-stimulating factor receptor
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 20 (Orphanet code 420728)
Associated genes:
Name: valyl-tRNA synthetase 1
Symbol: VARS1
Synonyms: lang: en
text: valine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 21 (Orphanet code 420733)
Associated genes:
Name: threonyl-tRNA synthetase 2, mitochondrial
Symbol: TARS2
Synonyms: lang: en
text: FLJ12528
lang: en
text: threonine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: RIDDLE syndrome (Orphanet code 420741)
Associated genes:
Name: ring finger protein 168
Symbol: RNF168
Synonyms: lang: en
text: FLJ35794
GeneType: Name: gene with protein product
Rare disease: Adult-onset cervical dystonia, DYT23 type (Orphanet code 420492)
Associated genes:
Name: CDKN1A interacting zinc finger protein 1
Symbol: CIZ1
Synonyms: lang: en
text: LSFR1
lang: en
text: ZNF356
GeneType: Name: gene with protein product
Rare disease: Cranio-cervical dystonia with laryngeal and upper-limb involvement (Orphanet code 420485)
Associated genes:
Name: anoctamin 3
Symbol: ANO3
Synonyms: lang: en
text: DYT23
lang: en
text: GENX-3947
lang: en
text: dystonia 23
lang: en
text: transmembrane protein 16C (eight membrane-spanning domains)
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet code 420429)
Associated genes:
Name: alpha glucosidase
Symbol: GAA
Synonyms: lang: en
text: Pompe disease
lang: en
text: glycogen storage disease type II
GeneType: Name: gene with protein product
Rare disease: Transient myeloproliferative syndrome (Orphanet code 420611)
Associated genes:
Name: GATA binding protein 1
Symbol: GATA1
Synonyms: lang: en
text: ERYF1
lang: en
text: GATA-1
lang: en
text: NF-E1
lang: en
text: NFE1
lang: en
text: nuclear factor, erythroid 1
GeneType: Name: gene with protein product
Rare disease: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome (Orphanet code 420584)
Associated genes:
Name: GLI family zinc finger 2
Symbol: GLI2
Synonyms: lang: en
text: HPE9
lang: en
text: THP1
lang: en
text: THP2
lang: en
text: tax helper protein 1
lang: en
text: tax helper protein 2
lang: en
text: tax-responsive element-2 holding protein
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency (Orphanet code 420699)
Associated genes:
Name: C-X-C motif chemokine receptor 2
Symbol: CXCR2
Synonyms: lang: en
text: CD182
lang: en
text: CMKAR2
GeneType: Name: gene with protein product
Rare disease: Woolly hair-palmoplantar keratoderma syndrome (Orphanet code 420686)
Associated genes:
Name: KN motif and ankyrin repeat domains 2
Symbol: KANK2
Synonyms: lang: en
text: KIAA1518
lang: en
text: SIP
lang: en
text: steroid receptor coactivator interacting protein
GeneType: Name: gene with protein product
Rare disease: Temple-Baraitser syndrome (Orphanet code 420561)
Associated genes:
Name: potassium voltage-gated channel subfamily H member 1
Symbol: KCNH1
Synonyms: lang: en
text: K(V)10.1
lang: en
text: Kv10.1
lang: en
text: eag
lang: en
text: eag1
lang: en
text: ether-a-go-go 1
lang: en
text: h-eag
lang: en
text: hEAG
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to CTPS1 deficiency (Orphanet code 420573)
Associated genes:
Name: CTP synthase 1
Symbol: CTPS1
Synonyms: lang: en
text: GATD5
lang: en
text: GATD5A
GeneType: Name: gene with protein product
Rare disease: Bleeding disorder due to CalDAG-GEFI deficiency (Orphanet code 420566)
Associated genes:
Name: RAS guanyl releasing protein 2
Symbol: RASGRP2
Synonyms: lang: en
text: CALDAG-GEFI
lang: en
text: calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I
GeneType: Name: gene with protein product
Rare disease: Mucolipidosis type III alpha/beta (Orphanet code 423461)
Associated genes:
Name: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Symbol: GNPTAB
Synonyms: lang: en
text: KIAA1208
lang: en
text: MGC4170
GeneType: Name: gene with protein product
Rare disease: Mucolipidosis type III gamma (Orphanet code 423470)
Associated genes:
Name: N-acetylglucosamine-1-phosphate transferase subunit gamma
Symbol: GNPTG
Synonyms: lang: en
text: CAB56184
lang: en
text: GlcNAc-phosphotransferase gamma-subunit
lang: en
text: c316G12.3
GeneType: Name: gene with protein product
Rare disease: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome (Orphanet code 423454)
Associated genes:
Name: grainyhead like transcription factor 2
Symbol: GRHL2
Synonyms: lang: en
text: BOM
lang: en
text: FLJ13782
lang: en
text: brother-of-MGR
GeneType: Name: gene with protein product
Rare disease: Severe congenital neutropenia due to JAGN1 deficiency (Orphanet code 423384)
Associated genes:
Name: jagunal homolog 1
Symbol: JAGN1
Synonyms: lang: en
text: FLJ14602
lang: en
text: GL009
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 38 (Orphanet code 423296)
Associated genes:
Name: ELOVL fatty acid elongase 5
Symbol: ELOVL5
Synonyms: lang: en
text: HELO1
lang: en
text: dJ483K16.1
GeneType: Name: gene with protein product
Rare disease: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome (Orphanet code 423306)
Associated genes:
Name: glutaminyl-tRNA synthetase 1
Symbol: QARS1
Synonyms: lang: en
text: glutamine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (Orphanet code 423479)
Associated genes:
Name: phosphoribosyl pyrophosphate synthetase 1
Symbol: PRPS1
Synonyms: lang: en
text: CMTX5
lang: en
text: DFNX1
lang: en
text: PPRibP
lang: en
text: PRS I
lang: en
text: PRS-I
lang: en
text: ribose-phosphate diphosphokinase 1
GeneType: Name: gene with protein product
Rare disease: Hereditary clear cell renal cell carcinoma (Orphanet code 422526)
Associated genes:
Name: 8-oxoguanine DNA glycosylase
Symbol: OGG1
Synonyms: lang: en
text: 8-hydroxyguanine DNA glycosylase
lang: en
text: HMMH
lang: en
text: HOGG1
lang: en
text: MUTM
lang: en
text: OGG1 type 1d
lang: en
text: OGG1 type 1e
lang: en
text: OGG1 type 1g
lang: en
text: OGG1 type 1h
lang: en
text: OGH1
GeneType: Name: gene with protein product
Name: solute carrier family 49 member 4
Symbol: SLC49A4
Synonyms: lang: en
text: FLJ14784
lang: en
text: RCC4
lang: en
text: disrupted in renal cancer protein 2
lang: en
text: renal cell carcinoma 4
GeneType: Name: gene with protein product
Name: folliculin
Symbol: FLCN
Synonyms: lang: en
text: BHD
lang: en
text: DENND8B
lang: en
text: MGC17998
lang: en
text: MGC23445
GeneType: Name: gene with protein product
Name: ring finger protein 139
Symbol: RNF139
Synonyms: lang: en
text: HRCA1
lang: en
text: RCA1
lang: en
text: TRC8
lang: en
text: translocation in renal carcinoma, chromosome 8
GeneType: Name: gene with protein product
Name: fragile histidine triad diadenosine triphosphatase
Symbol: FHIT
Synonyms: lang: en
text: AP3Aase
lang: en
text: FRA3B
lang: en
text: bis(5'-adenosyl)-triphosphatase
GeneType: Name: gene with protein product
Name: HSPB1 associated protein 1
Symbol: HSPBAP1
Synonyms: lang: en
text: FLJ22623
lang: en
text: PASS1
GeneType: Name: gene with protein product
Name: disrupted in renal carcinoma 3
Symbol: DIRC3
Synonyms: lang: en
text: FLJ14199
GeneType: Name: Non-coding RNA
Rare disease: Spinocerebellar ataxia type 40 (Orphanet code 423275)
Associated genes:
Name: coiled-coil domain containing 88C
Symbol: CCDC88C
Synonyms: lang: en
text: DAPLE
lang: en
text: Dvl-associating protein with a high frequency of leucine residues
lang: en
text: HkRP2
lang: en
text: SCA40
lang: en
text: spinocerebellar ataxia 40
GeneType: Name: gene with protein product
Rare disease: Congenital myopathy with myasthenic-like onset (Orphanet code 424107)
Associated genes:
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product