TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital muscular dystrophy without intellectual disability (Orphanet code 370980)
Associated genes:
Name: protein O-mannosyltransferase 1
Symbol: POMT1
Synonyms: lang: en
text: LGMD2K
lang: en
text: dolichyl-phosphate-mannose-protein mannosyltransferase
GeneType: Name: gene with protein product
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
GeneType: Name: gene with protein product
Name: fukutin related protein
Symbol: FKRP
Synonyms: lang: en
text: FKTR
lang: en
text: LGMD2I
lang: en
text: MDC1C
lang: en
text: Ribitol 5-phosphate transferase
GeneType: Name: gene with protein product
Name: CDP-L-ribitol pyrophosphorylase A
Symbol: CRPPA
Synonyms: lang: en
text: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
lang: en
text: D-ribitol-5-phosphate cytidylyltransferase
lang: en
text: IspD
lang: en
text: Nip
lang: en
text: Notch1-induced protein
lang: en
text: hCG_1745121
lang: en
text: notch1-induced protein
GeneType: Name: gene with protein product
Rare disease: GM3 synthase deficiency (Orphanet code 370933)
Associated genes:
Name: ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Symbol: ST3GAL5
Synonyms: lang: en
text: SIATGM3S
lang: en
text: ST3GalV
lang: en
text: ganglioside GM3 synthase
lang: en
text: lactosylceramide alpha-2,3-sialyltransferase
GeneType: Name: gene with protein product
Rare disease: Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet code 370943)
Associated genes:
Name: solute carrier family 35 member A3
Symbol: SLC35A3
Synonyms: lang: en
text: UDP-N-acetylglucosamine transporter
GeneType: Name: gene with protein product
Rare disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (Orphanet code 369929)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 D
Symbol: CACNA1D
Synonyms: lang: en
text: CACH3
lang: en
text: CACN4
lang: en
text: Cav1.3
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 9 (Orphanet code 369920)
Associated genes:
Name: adenosine monophosphate deaminase 2
Symbol: AMPD2
Synonyms: lang: en
text: AMPD isoform L
lang: en
text: SPG63
GeneType: Name: gene with protein product
Rare disease: CADDS (Orphanet code 369942)
Associated genes:
Name: ATP binding cassette subfamily D member 1
Symbol: ABCD1
Synonyms: lang: en
text: ALDP
lang: en
text: AMN
lang: en
text: adrenoleukodystrophy
GeneType: Name: gene with protein product
Name: B cell receptor associated protein 31
Symbol: BCAP31
Synonyms: lang: en
text: 6C6-Ag
lang: en
text: BAP31
lang: en
text: CDM
lang: en
text: DXS1357E
GeneType: Name: gene with protein product
Rare disease: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet code 369939)
Associated genes:
Name: B cell receptor associated protein 31
Symbol: BCAP31
Synonyms: lang: en
text: 6C6-Ag
lang: en
text: BAP31
lang: en
text: CDM
lang: en
text: DXS1357E
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet code 369955)
Associated genes:
Name: ATP binding cassette subfamily D member 4
Symbol: ABCD4
Synonyms: lang: en
text: EST352188
lang: en
text: P70R
lang: en
text: PMP69
GeneType: Name: gene with protein product
Rare disease: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome (Orphanet code 369970)
Associated genes:
Name: ADAM metallopeptidase with thrombospondin type 1 motif 18
Symbol: ADAMTS18
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia with homocystinuria, type cblX (Orphanet code 369962)
Associated genes:
Name: host cell factor C1
Symbol: HCFC1
Synonyms: lang: en
text: CFF
lang: en
text: HCF-1
lang: en
text: HCF1
lang: en
text: MGC70925
lang: en
text: PPP1R89
lang: en
text: VCAF
lang: en
text: VP16-accessory protein
lang: en
text: protein phosphatase 1, regulatory subunit 89
GeneType: Name: gene with protein product
Rare disease: Severe dermatitis-multiple allergies-metabolic wasting syndrome (Orphanet code 369992)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: desmoglein 1
Symbol: DSG1
Synonyms: lang: en
text: CDHF4
GeneType: Name: gene with protein product
Rare disease: Focal palmoplantar keratoderma with joint keratoses (Orphanet code 370002)
Associated genes:
Name: desmoglein 1
Symbol: DSG1
Synonyms: lang: en
text: CDHF4
GeneType: Name: gene with protein product
Rare disease: Diffuse palmoplantar keratoderma with painful fissures (Orphanet code 369999)
Associated genes:
Name: desmoglein 1
Symbol: DSG1
Synonyms: lang: en
text: CDHF4
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (Orphanet code 369837)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class T
Symbol: PIGT
Synonyms: lang: en
text: GPI transamidase component PIG-T
lang: en
text: GPI transamidase subunit
lang: en
text: PIG-T
GeneType: Name: gene with protein product
Rare disease: TRAPPC11-related limb-girdle muscular dystrophy R18 (Orphanet code 369840)
Associated genes:
Name: trafficking protein particle complex subunit 11
Symbol: TRAPPC11
Synonyms: lang: en
text: FLJ12716
lang: en
text: foie gras homolog (zebrafish)
lang: en
text: foigr
lang: en
text: gry
lang: en
text: gryzun homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome (Orphanet code 369847)
Associated genes:
Name: trafficking protein particle complex subunit 11
Symbol: TRAPPC11
Synonyms: lang: en
text: FLJ12716
lang: en
text: foie gras homolog (zebrafish)
lang: en
text: foigr
lang: en
text: gry
lang: en
text: gryzun homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Congenital neutropenia-myelofibrosis-nephromegaly syndrome (Orphanet code 369852)
Associated genes:
Name: vacuolar protein sorting 45 homolog
Symbol: VPS45
Synonyms: lang: en
text: H1
lang: en
text: h-vps45
GeneType: Name: gene with protein product
Rare disease: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome (Orphanet code 369861)
Associated genes:
Name: tRNA nucleotidyl transferase 1
Symbol: TRNT1
Synonyms: lang: en
text: ATP(CTP):tRNA nucleotidyltransferase
lang: en
text: CCA-adding enzyme
lang: en
text: CCA1
lang: en
text: CGI-47
lang: en
text: MtCCA
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (Orphanet code 369867)
Associated genes:
Name: pleckstrin homology and RhoGEF domain containing G5
Symbol: PLEKHG5
Synonyms: lang: en
text: ARHGEF45
lang: en
text: GEF720
lang: en
text: KIAA0720
lang: en
text: Syx
lang: en
text: Tech
lang: en
text: synectin-binding guanine exchange factor
GeneType: Name: gene with protein product
Rare disease: Obesity due to SIM1 deficiency (Orphanet code 369873)
Associated genes:
Name: SIM bHLH transcription factor 1
Symbol: SIM1
Synonyms: lang: en
text: bHLHe14
GeneType: Name: gene with protein product
Rare disease: 2p21 microdeletion syndrome without cystinuria (Orphanet code 369881)
Associated genes:
Name: prolyl endopeptidase like
Symbol: PREPL
Synonyms: lang: en
text: KIAA0436
GeneType: Name: gene with protein product
Name: calmodulin-lysine N-methyltransferase
Symbol: CAMKMT
Synonyms: lang: en
text: CLNMT
lang: en
text: CaM KMT
GeneType: Name: gene with protein product
Rare disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency (Orphanet code 369891)
Associated genes:
Name: mediator complex subunit 13L
Symbol: MED13L
Synonyms: lang: en
text: KIAA1025
lang: en
text: TRAP240L
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet code 369897)
Associated genes:
Name: F-box and leucine rich repeat protein 4
Symbol: FBXL4
Synonyms: lang: en
text: FBL4
lang: en
text: FBL5
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 17 (Orphanet code 369913)
Associated genes:
Name: elaC ribonuclease Z 2
Symbol: ELAC2
Synonyms: lang: en
text: FLJ10530
lang: en
text: HPC2
lang: en
text: tRNase Z (long form)
GeneType: Name: gene with protein product
Rare disease: Infantile epileptic-dyskinetic encephalopathy (Orphanet code 364063)
Associated genes:
Name: aristaless related homeobox
Symbol: ARX
Synonyms: lang: en
text: CT121
lang: en
text: EIEE1
lang: en
text: ISSX
lang: en
text: cancer/testis antigen 121
GeneType: Name: gene with protein product
Rare disease: Severe early-childhood-onset retinal dystrophy (Orphanet code 364055)
Associated genes:
Name: retinoid isomerohydrolase RPE65
Symbol: RPE65
Synonyms: lang: en
text: BCO family, member 3
lang: en
text: BCO3
lang: en
text: LCA2
lang: en
text: all-trans-retinyl-palmitate hydrolase
lang: en
text: rd12
lang: en
text: retinol isomerase
GeneType: Name: gene with protein product
Name: lebercilin LCA5
Symbol: LCA5
GeneType: Name: gene with protein product
Name: lecithin retinol acyltransferase
Symbol: LRAT
Synonyms: lang: en
text: LCA14
lang: en
text: phosphatidylcholine--retinol O-acyltransferase
GeneType: Name: gene with protein product
Name: spermatogenesis associated 7
Symbol: SPATA7
Synonyms: lang: en
text: HSD3
GeneType: Name: gene with protein product
Rare disease: ALK-positive large B-cell lymphoma (Orphanet code 364043)
Associated genes:
Name: ALK receptor tyrosine kinase
Symbol: ALK
Synonyms: lang: en
text: ALK1
lang: en
text: CD246
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability due to GRIA3 mutations (Orphanet code 364028)
Associated genes:
Name: glutamate ionotropic receptor AMPA type subunit 3
Symbol: GRIA3
Synonyms: lang: en
text: AMPA receptor subunit GluA3
lang: en
text: GLURC
lang: en
text: GluA3
lang: en
text: GluR-3
lang: en
text: GluR-C
lang: en
text: GluR-K3
lang: en
text: Glutamate receptor 3
lang: en
text: MRX94
lang: en
text: iGluR3
GeneType: Name: gene with protein product
Rare disease: Infantile Refsum disease (Orphanet code 772)
Associated genes:
Name: peroxisomal biogenesis factor 2
Symbol: PEX2
Synonyms: lang: en
text: PAF-1
lang: en
text: PMP35
lang: en
text: RNF72
lang: en
text: ZWS3
lang: en
text: Zellweger syndrome
lang: en
text: peroxin 2
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 1
Symbol: PEX1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 10
Symbol: PEX10
Synonyms: lang: en
text: RNF69
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 12
Symbol: PEX12
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 13
Symbol: PEX13
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 14
Symbol: PEX14
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 16
Symbol: PEX16
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 19
Symbol: PEX19
Synonyms: lang: en
text: D1S2223E
lang: en
text: HK33
lang: en
text: PMP1
lang: en
text: PMPI
lang: en
text: PXMP1
lang: en
text: housekeeping gene, 33kD
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 26
Symbol: PEX26
Synonyms: lang: en
text: FLJ20695
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 3
Symbol: PEX3
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 5
Symbol: PEX5
Synonyms: lang: en
text: PTS1R
lang: en
text: peroxisomal import receptor 5
lang: en
text: peroxisomal targeting signal 1 receptor
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 6
Symbol: PEX6
Synonyms: lang: en
text: PAF-2
lang: en
text: PXAAA1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 11 beta
Symbol: PEX11B
Synonyms: lang: en
text: PEX11beta
lang: en
text: Peroxisomal membrane protein 11B
GeneType: Name: gene with protein product
Rare disease: TMEM70-related mitochondrial encephalo-cardio-myopathy (Orphanet code 1194)
Associated genes:
Name: transmembrane protein 70
Symbol: TMEM70
Synonyms: lang: en
text: FLJ20533
GeneType: Name: gene with protein product
Rare disease: Non-immune hydrops fetalis (Orphanet code 363999)
Associated genes:
Name: angiopoietin 2
Symbol: ANGPT2
Synonyms: lang: en
text: Ang2
GeneType: Name: gene with protein product
Name: thrombospondin type 1 domain containing 1
Symbol: THSD1
Synonyms: lang: en
text: TMTSP
GeneType: Name: gene with protein product
Name: calcitonin receptor like receptor
Symbol: CALCRL
Synonyms: lang: en
text: CGRPR
lang: en
text: CRLR
GeneType: Name: gene with protein product
Rare disease: Familial benign flecked retina (Orphanet code 363989)
Associated genes:
Name: phospholipase A2 group V
Symbol: PLA2G5
GeneType: Name: gene with protein product
Rare disease: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome (Orphanet code 363992)
Associated genes:
Name: ADAM metallopeptidase with thrombospondin type 1 motif 17
Symbol: ADAMTS17
Synonyms: lang: en
text: FLJ16363
lang: en
text: FLJ32769
GeneType: Name: gene with protein product
Name: ceramide synthase 3
Symbol: CERS3
Synonyms: lang: en
text: MGC27091
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4B3 (Orphanet code 363981)
Associated genes:
Name: SET binding factor 1
Symbol: SBF1
Synonyms: lang: en
text: DENN/MADD domain containing 7A
lang: en
text: DENND7A
lang: en
text: MTMR5
lang: en
text: myotubularin related 5
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebral atrophy (Orphanet code 363969)
Associated genes:
Name: transmembrane serine protease 4
Symbol: TMPRSS4
Synonyms: lang: en
text: CAP2
lang: en
text: MT-SP2
lang: en
text: Membrane-type serine protease 2
lang: en
text: TMPRSS3
lang: en
text: Transmembrane serine protease 3
lang: en
text: Type II membrane serine protease
lang: en
text: channel-activating serine protease 2
lang: en
text: membrane-type serine protease 2
lang: en
text: transmembrane serine protease 3
lang: en
text: type II membrane serine protease
GeneType: Name: gene with protein product
Rare disease: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet code 363972)
Associated genes:
Name: Cbl proto-oncogene
Symbol: CBL
Synonyms: lang: en
text: RNF55
lang: en
text: c-Cbl
lang: en
text: oncogene CBL2
GeneType: Name: gene with protein product
Rare disease: Koolen-De Vries syndrome due to a point mutation (Orphanet code 363965)
Associated genes:
Name: KAT8 regulatory NSL complex subunit 1
Symbol: KANSL1
Synonyms: lang: en
text: CENP-36
lang: en
text: Centromere protein 36
lang: en
text: DKFZP727C091
lang: en
text: MSL1v1
lang: en
text: NSL1
lang: en
text: centromere protein 36
GeneType: Name: gene with protein product
Rare disease: 17q21.31 microdeletion syndrome (Orphanet code 363958)
Associated genes:
Name: KAT8 regulatory NSL complex subunit 1
Symbol: KANSL1
Synonyms: lang: en
text: CENP-36
lang: en
text: Centromere protein 36
lang: en
text: DKFZP727C091
lang: en
text: MSL1v1
lang: en
text: NSL1
lang: en
text: centromere protein 36
GeneType: Name: gene with protein product
Rare disease: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (Orphanet code 363727)
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: Alexander disease type II (Orphanet code 363722)
Associated genes:
Name: glial fibrillary acidic protein
Symbol: GFAP
Synonyms: lang: en
text: FLJ45472
lang: en
text: intermediate filament protein
GeneType: Name: gene with protein product
Rare disease: Alexander disease type I (Orphanet code 363717)
Associated genes:
Name: glial fibrillary acidic protein
Symbol: GFAP
Synonyms: lang: en
text: FLJ45472
lang: en
text: intermediate filament protein
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 37 (Orphanet code 363710)
Associated genes:
Name: DAB adaptor protein 1
Symbol: DAB1
Synonyms: lang: en
text: yotari
GeneType: Name: gene with protein product
Name: spinocerebellar ataxia 37
Symbol: SCA37
GeneType: Name: Disorder-associated locus
Rare disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion (Orphanet code 363700)
Associated genes:
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Rare disease: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet code 363694)
Associated genes:
Name: seryl-tRNA synthetase 2, mitochondrial
Symbol: SARS2
Synonyms: lang: en
text: FLJ20450
lang: en
text: SARS
lang: en
text: SERS
lang: en
text: SYS
lang: en
text: SerRSmt
lang: en
text: mtSerRS
lang: en
text: serine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (Orphanet code 363686)
Associated genes:
Name: GATA zinc finger domain containing 2B
Symbol: GATAD2B
Synonyms: lang: en
text: P66beta
lang: en
text: Transcription repressor p66 beta component of the MeCP1 complex
lang: en
text: transcription repressor p66 beta component of the MeCP1 complex
GeneType: Name: gene with protein product
Rare disease: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (Orphanet code 363677)
Associated genes:
Name: myosin heavy chain 2
Symbol: MYH2
Synonyms: lang: en
text: MYH2A
lang: en
text: MYHSA2
lang: en
text: MYHas8
lang: en
text: MyHC-2A
lang: en
text: MyHC-IIa
GeneType: Name: gene with protein product
Rare disease: Temtamy preaxial brachydactyly syndrome (Orphanet code 363417)
Associated genes:
Name: chondroitin sulfate synthase 1
Symbol: CHSY1
Synonyms: lang: en
text: CSS1
lang: en
text: KIAA0990
GeneType: Name: gene with protein product
Rare disease: Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet code 363409)
Associated genes:
Name: dynamin 2
Symbol: DNM2
Synonyms: lang: en
text: CMT2M
lang: en
text: CMTDI1
lang: en
text: CMTDIB
lang: en
text: DI-CMTB
lang: en
text: DYN2
lang: en
text: DYNII
lang: en
text: cytoskeletal protein
lang: en
text: dynamin II
GeneType: Name: gene with protein product
Rare disease: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet code 363412)
Associated genes:
Name: aspartyl-tRNA synthetase 1
Symbol: DARS1
Synonyms: lang: en
text: aspartate tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency (Orphanet code 363432)
Associated genes:
Name: glutamate ionotropic receptor delta type subunit 2
Symbol: GRID2
Synonyms: lang: en
text: GluD2
lang: en
text: GluR-delta-2
GeneType: Name: gene with protein product
Rare disease: Multiple mitochondrial dysfunctions syndrome type 3 (Orphanet code 363424)
Associated genes:
Name: iron-sulfur cluster assembly factor IBA57
Symbol: IBA57
Synonyms: lang: en
text: FLJ12734
lang: en
text: iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
GeneType: Name: gene with protein product
Rare disease: High myopia-sensorineural deafness syndrome (Orphanet code 363396)
Associated genes:
Name: SLIT and NTRK like family member 6
Symbol: SLITRK6
Synonyms: lang: en
text: FLJ22774
GeneType: Name: gene with protein product
Rare disease: Severe neurodegenerative syndrome with lipodystrophy (Orphanet code 363400)
Associated genes:
Name: BSCL2 lipid droplet biogenesis associated, seipin
Symbol: BSCL2
Synonyms: lang: en
text: seipin
GeneType: Name: gene with protein product
Rare disease: LMNA-related cardiocutaneous progeria syndrome (Orphanet code 363618)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: GMPPB-related limb-girdle muscular dystrophy R19 (Orphanet code 363623)
Associated genes:
Name: GDP-mannose pyrophosphorylase B
Symbol: GMPPB
Synonyms: lang: en
text: KIAA1851
lang: en
text: mannose-1-phosphate guanyltransferase beta
GeneType: Name: gene with protein product
Rare disease: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome (Orphanet code 363649)
Associated genes:
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: X-linked parkinsonism-spasticity syndrome (Orphanet code 363654)
Associated genes:
Name: ATPase H+ transporting accessory protein 2
Symbol: ATP6AP2
Synonyms: lang: en
text: APT6M8-9
lang: en
text: ATP6M8-9
lang: en
text: M8-9
lang: en
text: PRR
lang: en
text: RENR
lang: en
text: V-ATPase M8.9 subunit
lang: en
text: prorenin receptor
lang: en
text: renin receptor
GeneType: Name: gene with protein product
Rare disease: Acroosteolysis-keloid-like lesions-premature aging syndrome (Orphanet code 363665)
Associated genes:
Name: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy with mild cerebellar ataxia and white matter edema (Orphanet code 363540)
Associated genes:
Name: chloride voltage-gated channel 2
Symbol: CLCN2
Synonyms: lang: en
text: CLC2
lang: en
text: ClC-2
lang: en
text: EJM6
GeneType: Name: gene with protein product
Rare disease: Acute encephalopathy with biphasic seizures and late reduced diffusion (Orphanet code 363549)
Associated genes:
Name: adenosine A2a receptor
Symbol: ADORA2A
Synonyms: lang: en
text: RDC8
GeneType: Name: gene with protein product
Rare disease: CTCF-related neurodevelopmental disorder (Orphanet code 363611)
Associated genes:
Name: CCCTC-binding factor
Symbol: CTCF
Synonyms: lang: en
text: 11 zinc finger transcriptional repressor
lang: en
text: CFAP108
lang: en
text: FAP108
GeneType: Name: gene with protein product
Rare disease: Non-seminomatous germ cell tumor of testis (Orphanet code 363494)
Associated genes:
Name: KIT ligand
Symbol: KITLG
Synonyms: lang: en
text: DFNA69
lang: en
text: FPH2
lang: en
text: KL-1
lang: en
text: Kitl
lang: en
text: SCF
lang: en
text: SF
lang: en
text: SLF
lang: en
text: familial progressive hyperpigmentation 2
lang: en
text: mast cell growth factor
lang: en
text: steel factor
lang: en
text: stem cell factor
GeneType: Name: gene with protein product
Name: sprouty RTK signaling antagonist 4
Symbol: SPRY4
GeneType: Name: gene with protein product
Rare disease: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (Orphanet code 363523)
Associated genes:
Name: component of oligomeric golgi complex 6
Symbol: COG6
Synonyms: lang: en
text: COD2
lang: en
text: KIAA1134
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form (Orphanet code 363534)
Associated genes:
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-strabismus syndrome (Orphanet code 363528)
Associated genes:
Name: adenosine deaminase tRNA specific 3
Symbol: ADAT3
Synonyms: lang: en
text: TAD3
lang: en
text: tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)
GeneType: Name: gene with protein product