TaoMedAI/RareMedData huggingface dataset:
Rare disease: CHARGE syndrome (Orphanet code 138)
Associated genes:
Name: semaphorin 3E
Symbol: SEMA3E
Synonyms: lang: en
text: KIAA0331
lang: en
text: M-SemaK
lang: en
text: M-sema H
lang: en
text: coll-5
GeneType: Name: gene with protein product
Name: chromodomain helicase DNA binding protein 7
Symbol: CHD7
Synonyms: lang: en
text: FLJ20357
lang: en
text: FLJ20361
lang: en
text: KIAA1416
GeneType: Name: gene with protein product
Rare disease: Familial mesial temporal lobe epilepsy with febrile seizures (Orphanet code 165805)
Associated genes:
Name: carboxypeptidase A6
Symbol: CPA6
Synonyms: lang: en
text: CPAH
GeneType: Name: gene with protein product
Rare disease: Ataxia-telangiectasia (Orphanet code 100)
Associated genes:
Name: ATM serine/threonine kinase
Symbol: ATM
Synonyms: lang: en
text: TEL1
lang: en
text: TEL1, telomere maintenance 1, homolog (S. cerevisiae)
lang: en
text: TELO1
GeneType: Name: gene with protein product
Rare disease: Huntington disease (Orphanet code 399)
Associated genes:
Name: huntingtin
Symbol: HTT
Synonyms: lang: en
text: IT15
GeneType: Name: gene with protein product
Name: solute carrier family 2 member 3
Symbol: SLC2A3
GeneType: Name: gene with protein product
Rare disease: Lafora disease (Orphanet code 501)
Associated genes:
Name: EPM2A glucan phosphatase, laforin
Symbol: EPM2A
Synonyms: lang: en
text: LD
lang: en
text: LDE
GeneType: Name: gene with protein product
Name: NHL repeat containing E3 ubiquitin protein ligase 1
Symbol: NHLRC1
Synonyms: lang: en
text: EPM2B
lang: en
text: bA204B7.2
lang: en
text: epilepsy, progressive myoclonus type 2B
lang: en
text: malin
GeneType: Name: gene with protein product
Rare disease: 22q11.2 deletion syndrome (Orphanet code 567)
Associated genes:
Name: T-box transcription factor 1
Symbol: TBX1
Synonyms: lang: en
text: CATCH22
GeneType: Name: gene with protein product
Name: T-box transcription factor 1
Symbol: TBX1
Synonyms: lang: en
text: CATCH22
GeneType: Name: gene with protein product
Name: ARVCF delta catenin family member
Symbol: ARVCF
GeneType: Name: gene with protein product
Name: glycoprotein Ib platelet subunit beta
Symbol: GP1BB
Synonyms: lang: en
text: CD42c
lang: en
text: GPIbbeta
lang: en
text: platelet glycoprotein Ib beta chain
GeneType: Name: gene with protein product
Name: ubiquitin recognition factor in ER associated degradation 1
Symbol: UFD1
GeneType: Name: gene with protein product
Name: histone cell cycle regulator
Symbol: HIRA
Synonyms: lang: en
text: DGCR1
lang: en
text: DiGeorge critical region gene 1
lang: en
text: TUP1
lang: en
text: histone regulator A
GeneType: Name: gene with protein product
Name: catechol-O-methyltransferase
Symbol: COMT
GeneType: Name: gene with protein product
Name: jumonji domain containing 1C
Symbol: JMJD1C
Synonyms: lang: en
text: DKFZp761F0118
lang: en
text: FLJ14374
lang: en
text: KDM3C
lang: en
text: KIAA1380
GeneType: Name: gene with protein product
Name: ras responsive element binding protein 1
Symbol: RREB1
Synonyms: lang: en
text: HNT
lang: en
text: hindsight homolog (drosophila)
GeneType: Name: gene with protein product
Name: SEC24 homolog C, COPII coat complex component
Symbol: SEC24C
Synonyms: lang: en
text: KIAA0079
GeneType: Name: gene with protein product
Rare disease: Sickle cell anemia (Orphanet code 232)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (Orphanet code 166002)
Associated genes:
Name: collagen type IX alpha 1 chain
Symbol: COL9A1
GeneType: Name: gene with protein product
Name: collagen type IX alpha 2 chain
Symbol: COL9A2
Synonyms: lang: en
text: MED
GeneType: Name: gene with protein product
Name: collagen type IX alpha 3 chain
Symbol: COL9A3
Synonyms: lang: en
text: DJ885L7.4.1
lang: en
text: EDM3
lang: en
text: FLJ90759
lang: en
text: IDD
lang: en
text: MED
lang: en
text: collagen type IX proteoglycan
GeneType: Name: gene with protein product
Rare disease: Oculocerebrorenal syndrome of Lowe (Orphanet code 534)
Associated genes:
Name: OCRL inositol polyphosphate-5-phosphatase
Symbol: OCRL
Synonyms: lang: en
text: Dent disease 2
lang: en
text: Dent-2
lang: en
text: OCRL1
GeneType: Name: gene with protein product
Rare disease: Exercise-induced hyperinsulinism (Orphanet code 165991)
Associated genes:
Name: solute carrier family 16 member 1
Symbol: SLC16A1
Synonyms: lang: en
text: MCT
lang: en
text: MCT1
lang: en
text: Monocarboxylate transporter 1
GeneType: Name: gene with protein product
Rare disease: Multiple endocrine neoplasia type 1 (Orphanet code 652)
Associated genes:
Name: cyclin dependent kinase inhibitor 1B
Symbol: CDKN1B
Synonyms: lang: en
text: KIP1
lang: en
text: P27KIP1
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 1A
Symbol: CDKN1A
Synonyms: lang: en
text: CAP20
lang: en
text: CIP1
lang: en
text: Cdk-interacting protein 1
lang: en
text: P21
lang: en
text: SDI1
lang: en
text: WAF1
lang: en
text: p21
lang: en
text: p21CIP1
lang: en
text: p21Cip1/Waf1
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 2B
Symbol: CDKN2B
Synonyms: lang: en
text: CDK4I
lang: en
text: INK4B
lang: en
text: MTS2
lang: en
text: P15
lang: en
text: TP15
lang: en
text: p15INK4b
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 2C
Symbol: CDKN2C
Synonyms: lang: en
text: INK4C
lang: en
text: p18
GeneType: Name: gene with protein product
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Rare disease: Fragile X syndrome (Orphanet code 908)
Associated genes:
Name: fragile X messenger ribonucleoprotein 1
Symbol: FMR1
Synonyms: lang: en
text: FMRP
lang: en
text: FRAXA
lang: en
text: MGC87458
GeneType: Name: gene with protein product
Rare disease: X-linked agammaglobulinemia (Orphanet code 47)
Associated genes:
Name: Bruton tyrosine kinase
Symbol: BTK
Synonyms: lang: en
text: ATK
lang: en
text: Bruton's tyrosine kinase
lang: en
text: PSCTK1
lang: en
text: XLA
GeneType: Name: gene with protein product
Rare disease: Wilson disease (Orphanet code 905)
Associated genes:
Name: ATPase copper transporting beta
Symbol: ATP7B
Synonyms: lang: en
text: Wilson disease
lang: en
text: copper pump 2
lang: en
text: copper-transporting ATPase 2
GeneType: Name: gene with protein product
Rare disease: X-linked retinoschisis (Orphanet code 792)
Associated genes:
Name: retinoschisin 1
Symbol: RS1
Synonyms: lang: en
text: XLRS1
GeneType: Name: gene with protein product
Rare disease: Stargardt disease (Orphanet code 827)
Associated genes:
Name: cyclic nucleotide gated channel subunit beta 3
Symbol: CNGB3
GeneType: Name: gene with protein product
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 4
Symbol: ABCA4
Synonyms: lang: en
text: ARMD2
lang: en
text: CORD3
lang: en
text: FFM
lang: en
text: Stargardt disease
GeneType: Name: gene with protein product
Name: ELOVL fatty acid elongase 4
Symbol: ELOVL4
Synonyms: lang: en
text: CT118
lang: en
text: cancer/testis antigen 118
GeneType: Name: gene with protein product
Name: prominin 1
Symbol: PROM1
Synonyms: lang: en
text: AC133
lang: en
text: AC133 antigen
lang: en
text: CD133
lang: en
text: CORD12
lang: en
text: RP41
lang: en
text: Retinitis pigmentosa 41, Cone-rod dystrophy 12
GeneType: Name: gene with protein product
Rare disease: Wiskott-Aldrich syndrome (Orphanet code 906)
Associated genes:
Name: WASP actin nucleation promoting factor
Symbol: WAS
Synonyms: lang: en
text: WASP
lang: en
text: WASPA
lang: en
text: eczema-thrombocytopenia
GeneType: Name: gene with protein product
Name: WAS/WASL interacting protein family member 1
Symbol: WIPF1
Synonyms: lang: en
text: WIP
GeneType: Name: gene with protein product
Rare disease: Wolf-Hirschhorn syndrome (Orphanet code 280)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Symbol: PIGG
Synonyms: lang: en
text: FLJ20265
lang: en
text: GPI ethanolamine phosphate transferase 2
lang: en
text: GPI7
lang: en
text: LAS21
lang: en
text: LAS21 (GPI7) homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: complexin 1
Symbol: CPLX1
Synonyms: lang: en
text: CPX-I
GeneType: Name: gene with protein product
Name: C-terminal binding protein 1
Symbol: CTBP1
Synonyms: lang: en
text: BARS
lang: en
text: brefeldin A-ribosylated substrate
GeneType: Name: gene with protein product
Name: nuclear receptor binding SET domain protein 2
Symbol: NSD2
Synonyms: lang: en
text: KMT3G
lang: en
text: MMSET
lang: en
text: multiple myeloma SET domain containing protein
GeneType: Name: gene with protein product
Name: negative elongation factor complex member A
Symbol: NELFA
Synonyms: lang: en
text: NELF-A
GeneType: Name: gene with protein product
Name: leucine zipper and EF-hand containing transmembrane protein 1
Symbol: LETM1
Synonyms: lang: en
text: Mdm38
lang: en
text: Mdm38 homolog (yeast)
lang: en
text: SLC55A1
GeneType: Name: gene with protein product
Rare disease: Achondroplasia (Orphanet code 15)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: Ataxia with vitamin E deficiency (Orphanet code 96)
Associated genes:
Name: alpha tocopherol transfer protein
Symbol: TTPA
GeneType: Name: gene with protein product
Rare disease: Dentatorubral pallidoluysian atrophy (Orphanet code 101)
Associated genes:
Name: atrophin 1
Symbol: ATN1
Synonyms: lang: en
text: B37
GeneType: Name: gene with protein product
Rare disease: T-B+ severe combined immunodeficiency due to gamma chain deficiency (Orphanet code 276)
Associated genes:
Name: interleukin 2 receptor subunit gamma
Symbol: IL2RG
Synonyms: lang: en
text: CD132
GeneType: Name: gene with protein product
Rare disease: Kennedy disease (Orphanet code 481)
Associated genes:
Name: androgen receptor
Symbol: AR
Synonyms: lang: en
text: AIS
lang: en
text: HUMARA
lang: en
text: Kennedy disease
lang: en
text: NR3C4
lang: en
text: SMAX1
lang: en
text: testicular feminization
GeneType: Name: gene with protein product
Rare disease: Ornithine transcarbamylase deficiency (Orphanet code 664)
Associated genes:
Name: ornithine transcarbamylase
Symbol: OTC
Synonyms: lang: en
text: OTC1
lang: en
text: OTCD
lang: en
text: OTCase
lang: en
text: ornithine transcarbamylase deficiency
GeneType: Name: gene with protein product
Rare disease: Homocystinuria due to cystathionine beta-synthase deficiency (Orphanet code 394)
Associated genes:
Name: cystathionine beta-synthase
Symbol: CBS
Synonyms: lang: en
text: HIP4
GeneType: Name: gene with protein product
Rare disease: Leprechaunism (Orphanet code 508)
Associated genes:
Name: insulin receptor
Symbol: INSR
Synonyms: lang: en
text: CD220
GeneType: Name: gene with protein product
Rare disease: Hb Bart's hydrops fetalis (Orphanet code 163596)
Associated genes:
Name: hemoglobin subunit alpha 2
Symbol: HBA2
Synonyms: lang: en
text: HBA-T2
GeneType: Name: gene with protein product
Name: hemoglobin subunit alpha 1
Symbol: HBA1
Synonyms: lang: en
text: HBA-T3
GeneType: Name: gene with protein product
Rare disease: Hypochondroplasia (Orphanet code 429)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: Leber hereditary optic neuropathy (Orphanet code 104)
Associated genes:
Name: NADH:ubiquinone oxidoreductase core subunit S2
Symbol: NDUFS2
Synonyms: lang: en
text: CI-49
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
lang: en
text: complex I 49kDa subunit
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C30
Symbol: DNAJC30
GeneType: Name: gene with protein product
Name: mitochondrially encoded ATP synthase membrane subunit 6
Symbol: MT-ATP6
Synonyms: lang: en
text: ATP6
lang: en
text: ATPase-6
lang: en
text: Su6m
lang: en
text: mitochondrially encoded ATP synthase membrane subunit a
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase I
Symbol: MT-CO1
Synonyms: lang: en
text: COI
lang: en
text: COX1
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase III
Symbol: MT-CO3
Synonyms: lang: en
text: CO3
lang: en
text: COIII
lang: en
text: COX3
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome b
Symbol: MT-CYB
Synonyms: lang: en
text: COB
lang: en
text: CYTB
lang: en
text: UQCR3
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Symbol: MT-ND1
Synonyms: lang: en
text: NAD1
lang: en
text: NADH-ubiquinone oxidoreductase chain 1
lang: en
text: ND1
lang: en
text: complex I ND1 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
Symbol: MT-ND2
Synonyms: lang: en
text: NAD2
lang: en
text: NADH-ubiquinone oxidoreductase chain 2
lang: en
text: ND2
lang: en
text: complex I ND2 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol: MT-ND4
Synonyms: lang: en
text: NAD4
lang: en
text: NADH-ubiquinone oxidoreductase chain 4
lang: en
text: ND4
lang: en
text: complex I ND4 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
Symbol: MT-ND4L
Synonyms: lang: en
text: NAD4L
lang: en
text: NADH-ubiquinone oxidoreductase chain 4L
lang: en
text: ND4L
lang: en
text: complex I ND4L subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Symbol: MT-ND5
Synonyms: lang: en
text: NAD5
lang: en
text: NADH-ubiquinone oxidoreductase chain 5
lang: en
text: ND5
lang: en
text: complex I ND5 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
Symbol: MT-ND6
Synonyms: lang: en
text: NAD6
lang: en
text: NADH-ubiquinone oxidoreductase chain 6
lang: en
text: ND6
lang: en
text: complex I ND6 subunit
GeneType: Name: gene with protein product
Rare disease: Hydrocephalus with stenosis of the aqueduct of Sylvius (Orphanet code 2182)
Associated genes:
Name: L1 cell adhesion molecule
Symbol: L1CAM
Synonyms: lang: en
text: CAML1
lang: en
text: CD171
lang: en
text: NCAM-L1
lang: en
text: neural cell adhesion molecule L1
GeneType: Name: gene with protein product
Rare disease: Maffucci syndrome (Orphanet code 163634)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Rare disease: Benign familial mesial temporal lobe epilepsy (Orphanet code 163717)
Associated genes:
Name: carboxypeptidase A6
Symbol: CPA6
Synonyms: lang: en
text: CPAH
GeneType: Name: gene with protein product
Rare disease: Norrie disease (Orphanet code 649)
Associated genes:
Name: norrin cystine knot growth factor NDP
Symbol: NDP
Synonyms: lang: en
text: norrin
GeneType: Name: gene with protein product
Rare disease: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (Orphanet code 163727)
Associated genes:
Name: TBC1 domain family member 24
Symbol: TBC1D24
Synonyms: lang: en
text: DFNA65
lang: en
text: KIAA1171
lang: en
text: TBC/LysM-associated domain containing 6
lang: en
text: TLDC6
lang: en
text: deafness, autosomal dominant 65
lang: en
text: skywalker homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Rolandic epilepsy-speech dyspraxia syndrome (Orphanet code 163721)
Associated genes:
Name: sushi repeat containing protein X-linked 2
Symbol: SRPX2
Synonyms: lang: en
text: SRPUL
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 2A
Symbol: GRIN2A
Synonyms: lang: en
text: GluN2A
lang: en
text: NR2A
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy-dystonia-motor neuropathy syndrome (Orphanet code 163684)
Associated genes:
Name: sterol carrier protein 2
Symbol: SCP2
GeneType: Name: gene with protein product
Rare disease: CNTNAP2-related developmental and epileptic encephalopathy (Orphanet code 163681)
Associated genes:
Name: contactin associated protein 2
Symbol: CNTNAP2
Synonyms: lang: en
text: Caspr2
lang: en
text: KIAA0868
lang: en
text: NRXN4
lang: en
text: contactin-associated protein-like 2
GeneType: Name: gene with protein product
Rare disease: Chronic granulomatous disease (Orphanet code 379)
Associated genes:
Name: cytochrome b-245 beta chain
Symbol: CYBB
Synonyms: lang: en
text: Cytochrome b-245 heavy chain
lang: en
text: Cytochrome b558 subunit beta
lang: en
text: GP91-PHOX
lang: en
text: GP91PHOX
lang: en
text: NADPH oxidase 2
lang: en
text: NOX2
lang: en
text: p91-PHOX
GeneType: Name: gene with protein product
Name: neutrophil cytosolic factor 1
Symbol: NCF1
Synonyms: lang: en
text: NADPH oxidase organizer 2
lang: en
text: NCF1A
lang: en
text: NOXO2
lang: en
text: SH3PXD1A
lang: en
text: chronic granulomatous disease, autosomal 1
lang: en
text: p47phox
GeneType: Name: gene with protein product
Name: neutrophil cytosolic factor 2
Symbol: NCF2
Synonyms: lang: en
text: NADPH oxidase activator 2
lang: en
text: NOXA2
lang: en
text: chronic granulomatous disease, autosomal 2
lang: en
text: p67phox
GeneType: Name: gene with protein product
Name: cytochrome b-245 alpha chain
Symbol: CYBA
Synonyms: lang: en
text: Cytochrome b-245 light chain
lang: en
text: flavocytochrome b-558 alpha polypeptide
lang: en
text: p22-PHOX
lang: en
text: p22phox
GeneType: Name: gene with protein product
Name: neutrophil cytosolic factor 4
Symbol: NCF4
Synonyms: lang: en
text: SH3PXD4
lang: en
text: neutrophil NADPH oxidase factor 4
lang: en
text: p40phox
GeneType: Name: gene with protein product
Name: cytochrome b-245 chaperone 1
Symbol: CYBC1
Synonyms: lang: en
text: Eros
lang: en
text: FLJ90469
lang: en
text: MGC4368
GeneType: Name: gene with protein product
Rare disease: Blue cone monochromatism (Orphanet code 16)
Associated genes:
Name: opsin 1, medium wave sensitive
Symbol: OPN1MW
Synonyms: lang: en
text: COD5
lang: en
text: OPN1MW1
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Name: opsin 1, long wave sensitive
Symbol: OPN1LW
Synonyms: lang: en
text: COD5
lang: en
text: cone dystrophy 5 (X-linked)
GeneType: Name: gene with protein product
Rare disease: Alveolar soft tissue sarcoma (Orphanet code 163699)
Associated genes:
Name: transcription factor binding to IGHM enhancer 3
Symbol: TFE3
Synonyms: lang: en
text: TFEA
lang: en
text: bHLHe33
lang: en
text: transcription factor E family, member A
GeneType: Name: gene with protein product
Name: ASPSCR1 tether for SLC2A4, UBX domain containing
Symbol: ASPSCR1
Synonyms: lang: en
text: ASPL
lang: en
text: ASPS
lang: en
text: TUG
lang: en
text: Tether containing UBX domain for GLUT4
lang: en
text: UBX domain protein 9
lang: en
text: UBXD9
lang: en
text: UBXN9
GeneType: Name: gene with protein product
Rare disease: NARP syndrome (Orphanet code 644)
Associated genes:
Name: mitochondrially encoded ATP synthase membrane subunit 6
Symbol: MT-ATP6
Synonyms: lang: en
text: ATP6
lang: en
text: ATPase-6
lang: en
text: Su6m
lang: en
text: mitochondrially encoded ATP synthase membrane subunit a
GeneType: Name: gene with protein product
Rare disease: Full NF2-related schwannomatosis (Orphanet code 637)
Associated genes:
Name: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Symbol: NF2
Synonyms: lang: en
text: ACN
lang: en
text: BANF
lang: en
text: Merlin
lang: en
text: SCH
lang: en
text: bilateral acoustic neurofibromatosis
lang: en
text: merlin
lang: en
text: merlin-1
lang: en
text: moesin-ezrin-radixin like
lang: en
text: schwannomin
GeneType: Name: gene with protein product
Rare disease: Action myoclonus-renal failure syndrome (Orphanet code 163696)
Associated genes:
Name: scavenger receptor class B member 2
Symbol: SCARB2
Synonyms: lang: en
text: HLGP85
lang: en
text: LIMP-2
lang: en
text: LIMPII
lang: en
text: SR-BII
lang: en
text: lysosomal integral membrane protein II
lang: en
text: lysosome membrane protein 2
GeneType: Name: gene with protein product
Rare disease: X-linked hypohidrotic ectodermal dysplasia (Orphanet code 181)
Associated genes:
Name: ectodysplasin A
Symbol: EDA
Synonyms: lang: en
text: ED1-A1
lang: en
text: ED1-A2
lang: en
text: EDA-A1
lang: en
text: EDA-A2
lang: en
text: EDA1
lang: en
text: HED
lang: en
text: XHED
lang: en
text: XLHED
GeneType: Name: gene with protein product
Name: ectodysplasin A2 receptor
Symbol: EDA2R
Synonyms: lang: en
text: EDA-A2R
lang: en
text: EDAA2R
lang: en
text: TNFRSF27
lang: en
text: X-linked EDA receptor
lang: en
text: XEDAR
GeneType: Name: gene with protein product
Rare disease: 2p21 microdeletion syndrome (Orphanet code 163693)
Associated genes:
Name: solute carrier family 3 member 1
Symbol: SLC3A1
Synonyms: lang: en
text: ATR1
lang: en
text: CSNU1
lang: en
text: D2H
lang: en
text: NBAT
lang: en
text: RBAT
lang: en
text: amino acid transporter 1
lang: en
text: neutral and basic amino acid transport protein rBAT
GeneType: Name: gene with protein product
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
Name: protein phosphatase, Mg2+/Mn2+ dependent 1B
Symbol: PPM1B
Synonyms: lang: en
text: PP2CB
lang: en
text: PP2CBETA
lang: en
text: PPC2BETAX
lang: en
text: protein phosphatase 2C, beta isoform
GeneType: Name: gene with protein product
Rare disease: Hypotonia-cystinuria syndrome (Orphanet code 163690)
Associated genes:
Name: solute carrier family 3 member 1
Symbol: SLC3A1
Synonyms: lang: en
text: ATR1
lang: en
text: CSNU1
lang: en
text: D2H
lang: en
text: NBAT
lang: en
text: RBAT
lang: en
text: amino acid transporter 1
lang: en
text: neutral and basic amino acid transport protein rBAT
GeneType: Name: gene with protein product
Name: prolyl endopeptidase like
Symbol: PREPL
Synonyms: lang: en
text: KIAA0436
GeneType: Name: gene with protein product
Rare disease: Fibrodysplasia ossificans progressiva (Orphanet code 337)
Associated genes:
Name: activin A receptor type 1
Symbol: ACVR1
Synonyms: lang: en
text: ACVR1A
lang: en
text: ALK2
lang: en
text: SKR1
GeneType: Name: gene with protein product
Rare disease: Gorlin syndrome (Orphanet code 377)
Associated genes:
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Name: patched 2
Symbol: PTCH2
GeneType: Name: gene with protein product