TaoMedAI/RareMedData huggingface dataset:
Rare disease: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (Orphanet code 308400)
Associated genes:
Name: gephyrin
Symbol: GPHN
Synonyms: lang: en
text: GEPH
lang: en
text: GPH
lang: en
text: KIAA1385
GeneType: Name: gene with protein product
Rare disease: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet code 308410)
Associated genes:
Name: branched chain keto acid dehydrogenase kinase
Symbol: BCKDK
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Orphanet code 308425)
Associated genes:
Name: methylmalonyl-CoA epimerase
Symbol: MCEE
Synonyms: lang: en
text: GLOD2
lang: en
text: MCE
lang: en
text: MMCE
lang: en
text: glyoxalase domain containing 2
lang: en
text: methylmalonyl CoA isomerase
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (Orphanet code 308698)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (Orphanet code 308712)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (Orphanet code 308670)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (Orphanet code 308684)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Familial lipoprotein lipase deficiency (Orphanet code 309015)
Associated genes:
Name: lipoprotein lipase
Symbol: LPL
GeneType: Name: gene with protein product
Rare disease: Familial apolipoprotein C-II deficiency (Orphanet code 309020)
Associated genes:
Name: apolipoprotein C2
Symbol: APOC2
GeneType: Name: gene with protein product
Rare disease: Generalized galactose epimerase deficiency (Orphanet code 308487)
Associated genes:
Name: UDP-galactose-4-epimerase
Symbol: GALE
Synonyms: lang: en
text: SDR1E1
lang: en
text: UDP-glucose 4-epimerase
lang: en
text: short chain dehydrogenase/reductase family 1E, member 1
GeneType: Name: gene with protein product
Rare disease: Chordoma (Orphanet code 178)
Associated genes:
Name: partner and localizer of BRCA2
Symbol: PALB2
Synonyms: lang: en
text: FANCN
lang: en
text: FLJ21816
lang: en
text: Fanconi anemia, complementation group N
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: T-box transcription factor T
Symbol: TBXT
GeneType: Name: gene with protein product
Rare disease: Erythrocyte galactose epimerase deficiency (Orphanet code 308473)
Associated genes:
Name: UDP-galactose-4-epimerase
Symbol: GALE
Synonyms: lang: en
text: SDR1E1
lang: en
text: UDP-glucose 4-epimerase
lang: en
text: short chain dehydrogenase/reductase family 1E, member 1
GeneType: Name: gene with protein product
Rare disease: Microcephalic osteodysplastic primordial dwarfism type II (Orphanet code 2637)
Associated genes:
Name: pericentrin
Symbol: PCNT
Synonyms: lang: en
text: KEN
lang: en
text: KIAA0402
lang: en
text: PCN
lang: en
text: PCNTB
lang: en
text: SCKL4
lang: en
text: Seckel syndrome 4
lang: en
text: kendrin
GeneType: Name: gene with protein product
Rare disease: Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet code 308442)
Associated genes:
Name: metabolism of cobalamin associated D
Symbol: MMADHC
Synonyms: lang: en
text: CL25022
lang: en
text: cblD
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (Orphanet code 308655)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (Orphanet code 308638)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet code 308621)
Associated genes:
Name: 1,4-alpha-glucan branching enzyme 1
Symbol: GBE1
Synonyms: lang: en
text: Andersen disease
lang: en
text: glycogen branching enzyme
lang: en
text: glycogen storage disease type IV
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet code 308552)
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: Metachromatic leukodystrophy, adult form (Orphanet code 309271)
Associated genes:
Name: prosaposin
Symbol: PSAP
Synonyms: lang: en
text: precursor of saposins
lang: en
text: saposin-A
lang: en
text: saposin-B
lang: en
text: saposin-C
lang: en
text: saposin-D
lang: en
text: variant Gaucher disease and variant metachromatic leukodystrophy
GeneType: Name: gene with protein product
Name: arylsulfatase A
Symbol: ARSA
Synonyms: lang: en
text: ASA
lang: en
text: metachromatic leucodystrophy
GeneType: Name: gene with protein product
Rare disease: Alpha-mannosidosis, infantile form (Orphanet code 309282)
Associated genes:
Name: mannosidase alpha class 2B member 1
Symbol: MAN2B1
Synonyms: lang: en
text: LAMAN
lang: en
text: lysosomal alpha-mannosidase
GeneType: Name: gene with protein product
Rare disease: Alpha-mannosidosis, adult form (Orphanet code 309288)
Associated genes:
Name: mannosidase alpha class 2B member 1
Symbol: MAN2B1
Synonyms: lang: en
text: LAMAN
lang: en
text: lysosomal alpha-mannosidase
GeneType: Name: gene with protein product
Rare disease: GM2 gangliosidosis, AB variant (Orphanet code 309246)
Associated genes:
Name: ganglioside GM2 activator
Symbol: GM2A
Synonyms: lang: en
text: GM2-AP
lang: en
text: GM2-activator protein
lang: en
text: GM2AP
lang: en
text: SAP-3
lang: en
text: cerebroside sulfate activator protein
lang: en
text: sphingolipid activator protein 3
GeneType: Name: gene with protein product
Rare disease: Atypical Gaucher disease due to saposin C deficiency (Orphanet code 309252)
Associated genes:
Name: prosaposin
Symbol: PSAP
Synonyms: lang: en
text: precursor of saposins
lang: en
text: saposin-A
lang: en
text: saposin-B
lang: en
text: saposin-C
lang: en
text: saposin-D
lang: en
text: variant Gaucher disease and variant metachromatic leukodystrophy
GeneType: Name: gene with protein product
Rare disease: Metachromatic leukodystrophy, late infantile form (Orphanet code 309256)
Associated genes:
Name: prosaposin
Symbol: PSAP
Synonyms: lang: en
text: precursor of saposins
lang: en
text: saposin-A
lang: en
text: saposin-B
lang: en
text: saposin-C
lang: en
text: saposin-D
lang: en
text: variant Gaucher disease and variant metachromatic leukodystrophy
GeneType: Name: gene with protein product
Name: arylsulfatase A
Symbol: ARSA
Synonyms: lang: en
text: ASA
lang: en
text: metachromatic leucodystrophy
GeneType: Name: gene with protein product
Rare disease: Metachromatic leukodystrophy, juvenile form (Orphanet code 309263)
Associated genes:
Name: prosaposin
Symbol: PSAP
Synonyms: lang: en
text: precursor of saposins
lang: en
text: saposin-A
lang: en
text: saposin-B
lang: en
text: saposin-C
lang: en
text: saposin-D
lang: en
text: variant Gaucher disease and variant metachromatic leukodystrophy
GeneType: Name: gene with protein product
Name: arylsulfatase A
Symbol: ARSA
Synonyms: lang: en
text: ASA
lang: en
text: metachromatic leucodystrophy
GeneType: Name: gene with protein product
Rare disease: Free sialic acid storage disease, infantile form (Orphanet code 309324)
Associated genes:
Name: solute carrier family 17 member 5
Symbol: SLC17A5
Synonyms: lang: en
text: AST
lang: en
text: ISSD
lang: en
text: NSD
lang: en
text: SD
lang: en
text: SIALIN
lang: en
text: SLD
lang: en
text: Salla disease
lang: en
text: acidic sugar transporter
lang: en
text: infantile sialic acid storage disorder
GeneType: Name: gene with protein product
Rare disease: Intermediate severe Salla disease (Orphanet code 309331)
Associated genes:
Name: solute carrier family 17 member 5
Symbol: SLC17A5
Synonyms: lang: en
text: AST
lang: en
text: ISSD
lang: en
text: NSD
lang: en
text: SD
lang: en
text: SIALIN
lang: en
text: SLD
lang: en
text: Salla disease
lang: en
text: acidic sugar transporter
lang: en
text: infantile sialic acid storage disorder
GeneType: Name: gene with protein product
Rare disease: Salla disease (Orphanet code 309334)
Associated genes:
Name: solute carrier family 17 member 5
Symbol: SLC17A5
Synonyms: lang: en
text: AST
lang: en
text: ISSD
lang: en
text: NSD
lang: en
text: SD
lang: en
text: SIALIN
lang: en
text: SLD
lang: en
text: Salla disease
lang: en
text: acidic sugar transporter
lang: en
text: infantile sialic acid storage disorder
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 4A (Orphanet code 309297)
Associated genes:
Name: galactosamine (N-acetyl)-6-sulfatase
Symbol: GALNS
Synonyms: lang: en
text: GALNAC6S
lang: en
text: GAS
lang: en
text: GalN6S
lang: en
text: Morquio syndrome
lang: en
text: N-acetylgalactosamine-6-sulfatase
lang: en
text: chondroitinase
lang: en
text: chondroitinsulfatase
lang: en
text: galactose-6-sulfate sulfatase
lang: en
text: mucopolysaccharidosis type IVA
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 4B (Orphanet code 309310)
Associated genes:
Name: galactosidase beta 1
Symbol: GLB1
Synonyms: lang: en
text: EBP
lang: en
text: elastin binding protein
GeneType: Name: gene with protein product
Rare disease: Tay-Sachs disease, juvenile form (Orphanet code 309185)
Associated genes:
Name: hexosaminidase subunit alpha
Symbol: HEXA
Synonyms: lang: en
text: GM2 gangliosidosis
lang: en
text: Tay Sachs disease
lang: en
text: beta-hexosaminidase subunit alpha
GeneType: Name: gene with protein product
Rare disease: Tay-Sachs disease, infantile form (Orphanet code 309178)
Associated genes:
Name: hexosaminidase subunit alpha
Symbol: HEXA
Synonyms: lang: en
text: GM2 gangliosidosis
lang: en
text: Tay Sachs disease
lang: en
text: beta-hexosaminidase subunit alpha
GeneType: Name: gene with protein product
Rare disease: Tay-Sachs disease, adult form (Orphanet code 309192)
Associated genes:
Name: hexosaminidase subunit alpha
Symbol: HEXA
Synonyms: lang: en
text: GM2 gangliosidosis
lang: en
text: Tay Sachs disease
lang: en
text: beta-hexosaminidase subunit alpha
GeneType: Name: gene with protein product
Rare disease: Sandhoff disease, infantile form (Orphanet code 309155)
Associated genes:
Name: hexosaminidase subunit beta
Symbol: HEXB
Synonyms: lang: en
text: beta-hexosaminidase subunit beta
GeneType: Name: gene with protein product
Rare disease: Sandhoff disease, adult form (Orphanet code 309169)
Associated genes:
Name: hexosaminidase subunit beta
Symbol: HEXB
Synonyms: lang: en
text: beta-hexosaminidase subunit beta
GeneType: Name: gene with protein product
Rare disease: Sandhoff disease, juvenile form (Orphanet code 309162)
Associated genes:
Name: hexosaminidase subunit beta
Symbol: HEXB
Synonyms: lang: en
text: beta-hexosaminidase subunit beta
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive infantile hypercalcemia (Orphanet code 300547)
Associated genes:
Name: cytochrome P450 family 24 subfamily A member 1
Symbol: CYP24A1
Synonyms: lang: en
text: CP24
lang: en
text: P450-CC24
lang: en
text: lncBCAS1-4_1
GeneType: Name: gene with protein product
Name: solute carrier family 34 member 1
Symbol: SLC34A1
Synonyms: lang: en
text: NAPI-3
lang: en
text: NPTIIa
lang: en
text: Na+-phosphate cotransporter type II
lang: en
text: SLC11
lang: en
text: sodium/phosphate co-transporter
lang: en
text: solute carrier family 17 (sodium phosphate), member 2
GeneType: Name: gene with protein product
Rare disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet code 300570)
Associated genes:
Name: tubulin beta 3 class III
Symbol: TUBB3
Synonyms: lang: en
text: CFEOM3
lang: en
text: CFEOM3A
lang: en
text: beta-4
lang: en
text: class III beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Polymicrogyria due to TUBB2B mutation (Orphanet code 300573)
Associated genes:
Name: tubulin beta 2B class IIb
Symbol: TUBB2B
Synonyms: lang: en
text: DKFZp566F223
lang: en
text: MGC8685
lang: en
text: bA506K6.1
lang: en
text: class IIb beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Oligodontia-cancer predisposition syndrome (Orphanet code 300576)
Associated genes:
Name: axin 2
Symbol: AXIN2
Synonyms: lang: en
text: DKFZp781B0869
lang: en
text: MGC126582
lang: en
text: axil
lang: en
text: conductin
GeneType: Name: gene with protein product
Rare disease: Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet code 300496)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class A
Symbol: PIGA
Synonyms: lang: en
text: GPI3
lang: en
text: GPI3 (SPT14) homolog (S. cerevisiae)
lang: en
text: PIG-A
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
lang: en
text: paroxysmal nocturnal hemoglobinuria
GeneType: Name: gene with protein product
Rare disease: Pseudohypoaldosteronism type 2D (Orphanet code 300525)
Associated genes:
Name: kelch like family member 3
Symbol: KLHL3
Synonyms: lang: en
text: KIAA1129
GeneType: Name: gene with protein product
Rare disease: Pseudohypoaldosteronism type 2E (Orphanet code 300530)
Associated genes:
Name: cullin 3
Symbol: CUL3
GeneType: Name: gene with protein product
Rare disease: DDOST-CDG (Orphanet code 300536)
Associated genes:
Name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Symbol: DDOST
Synonyms: lang: en
text: GATD6
lang: en
text: KIAA0115
lang: en
text: OST
lang: en
text: OST48
lang: en
text: WBP1
lang: en
text: advanced glycation end-product receptor 1
lang: en
text: oligosaccharyltransferase subunit 48
GeneType: Name: gene with protein product
Rare disease: Primary cutaneous anaplastic large cell lymphoma (Orphanet code 300865)
Associated genes:
Name: tyrosine kinase 2
Symbol: TYK2
Synonyms: lang: en
text: JTK1
GeneType: Name: gene with protein product
Name: nucleophosmin 1
Symbol: NPM1
Synonyms: lang: en
text: B23
lang: en
text: NPM
lang: en
text: Nucleophosmin/nucleoplasmin family, member 1
lang: en
text: Numatrin
lang: en
text: nucleolar phosphoprotein B23
lang: en
text: nucleophosmin/nucleoplasmin family, member 1
lang: en
text: numatrin
GeneType: Name: gene with protein product
Rare disease: Hairy cell leukemia variant (Orphanet code 300878)
Associated genes:
Name: immunoglobulin heavy variable 4-34
Symbol: IGHV4-34
GeneType: Name: gene with protein product
Rare disease: ALK-positive anaplastic large cell lymphoma (Orphanet code 300895)
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: Juvenile amyotrophic lateral sclerosis (Orphanet code 300605)
Associated genes:
Name: alsin Rho guanine nucleotide exchange factor ALS2
Symbol: ALS2
Synonyms: lang: en
text: alsin
GeneType: Name: gene with protein product
Name: SPG11 vesicle trafficking associated, spatacsin
Symbol: SPG11
Synonyms: lang: en
text: FLJ21439
lang: en
text: spatacsin
GeneType: Name: gene with protein product
Name: sigma non-opioid intracellular receptor 1
Symbol: SIGMAR1
Synonyms: lang: en
text: SR-BP1
GeneType: Name: gene with protein product
Name: FUS RNA binding protein
Symbol: FUS
Synonyms: lang: en
text: FUS1
lang: en
text: HNRNPP2
lang: en
text: TLS
lang: en
text: heterogeneous nuclear ribonucleoprotein P2
lang: en
text: hnRNP-P2
lang: en
text: translocated in liposarcoma
GeneType: Name: gene with protein product
Name: serine palmitoyltransferase long chain base subunit 1
Symbol: SPTLC1
Synonyms: lang: en
text: HSAN1
lang: en
text: LCB1
lang: en
text: SPTI
lang: en
text: hLCB1
GeneType: Name: gene with protein product
Rare disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet code 300751)
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: FADD-related immunodeficiency (Orphanet code 306550)
Associated genes:
Name: Fas associated via death domain
Symbol: FADD
Synonyms: lang: en
text: Fas-associating death domain-containing protein
lang: en
text: Fas-associating protein with death domain
lang: en
text: GIG3
lang: en
text: Growth-inhibiting gene 3 protein
lang: en
text: MORT1
lang: en
text: Mediator of receptor-induced toxicity
lang: en
text: growth-inhibiting gene 3 protein
lang: en
text: mediator of receptor-induced toxicity
GeneType: Name: gene with protein product
Rare disease: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet code 306542)
Associated genes:
Name: ALX homeobox 1
Symbol: ALX1
GeneType: Name: gene with protein product
Rare disease: Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet code 306547)
Associated genes:
Name: junctional adhesion molecule 3
Symbol: JAM3
Synonyms: lang: en
text: JAM-3
lang: en
text: JAM-C
lang: en
text: JAMC
lang: en
text: junctional adhesion molecule C
GeneType: Name: gene with protein product
Rare disease: Congenital hereditary facial paralysis-variable hearing loss syndrome (Orphanet code 306530)
Associated genes:
Name: homeobox B1
Symbol: HOXB1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 48 (Orphanet code 306511)
Associated genes:
Name: adaptor related protein complex 5 subunit zeta 1
Symbol: AP5Z1
Synonyms: lang: en
text: SPG48
lang: en
text: zeta
GeneType: Name: gene with protein product
Rare disease: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome (Orphanet code 306504)
Associated genes:
Name: integrin subunit alpha 3
Symbol: ITGA3
Synonyms: lang: en
text: CD49c
lang: en
text: GAP-B3
lang: en
text: VCA-2
lang: en
text: VLA3a
lang: en
text: alpha 3 subunit of VLA-3 receptor
lang: en
text: antigen CD49C
lang: en
text: galactoprotein b3
lang: en
text: very late activation receptor subunit alpha-3
GeneType: Name: gene with protein product
Rare disease: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome (Orphanet code 306661)
Associated genes:
Name: fibroblast growth factor 23
Symbol: FGF23
GeneType: Name: gene with protein product
Name: polypeptide N-acetylgalactosaminyltransferase 3
Symbol: GALNT3
Synonyms: lang: en
text: GalNAc-T3
lang: en
text: HFTC
lang: en
text: HHS
lang: en
text: polypeptide GalNAc transferase 3
GeneType: Name: gene with protein product
Name: klotho
Symbol: KL
Synonyms: lang: en
text: KLA
lang: en
text: alpha-klotho
GeneType: Name: gene with protein product
Rare disease: Familial normophosphatemic tumoral calcinosis (Orphanet code 306658)
Associated genes:
Name: sterile alpha motif domain containing 9
Symbol: SAMD9
Synonyms: lang: en
text: FLJ20073
lang: en
text: KIAA2004
GeneType: Name: gene with protein product
Rare disease: X-linked complicated spastic paraplegia type 1 (Orphanet code 306617)
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: Hereditary sodium channelopathy-related small fibers neuropathy (Orphanet code 306577)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 10
Symbol: SCN10A
Synonyms: lang: en
text: Nav1.8
lang: en
text: PN3
lang: en
text: SNS
lang: en
text: hPN3
lang: en
text: peripheral nerve sodium channel 3
lang: en
text: sensory neuron sodium channel
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Rare disease: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet code 306558)
Associated genes:
Name: immediate early response 3 interacting protein 1
Symbol: IER3IP1
GeneType: Name: gene with protein product
Name: Yip1 domain family member 5
Symbol: YIPF5
Synonyms: lang: en
text: FinGER5
lang: en
text: SMAP-5
lang: en
text: YIPFalpha1A
lang: en
text: Yip1a
GeneType: Name: gene with protein product
Rare disease: Synpolydactyly type 1 (Orphanet code 295195)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Rare disease: Zygodactyly type 3 (Orphanet code 295191)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Rare disease: Congenital vertical talus, unilateral (Orphanet code 295201)
Associated genes:
Name: homeobox D10
Symbol: HOXD10
GeneType: Name: gene with protein product
Rare disease: Congenital vertical talus, bilateral (Orphanet code 295203)
Associated genes:
Name: homeobox D10
Symbol: HOXD10
GeneType: Name: gene with protein product
Rare disease: Synpolydactyly type 2 (Orphanet code 295197)
Associated genes:
Name: fibulin 1
Symbol: FBLN1
Synonyms: lang: en
text: FBLN
GeneType: Name: gene with protein product
Rare disease: Macrodactyly of fingers, unilateral (Orphanet code 295239)
Associated genes:
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Macrodactyly of toes, unilateral (Orphanet code 295243)
Associated genes:
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency (Orphanet code 300179)
Associated genes:
Name: FKBP prolyl isomerase 14
Symbol: FKBP14
Synonyms: lang: en
text: FKBP22
lang: en
text: FLJ20731
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2P (Orphanet code 300319)
Associated genes:
Name: leucine rich repeat and sterile alpha motif containing 1
Symbol: LRSAM1
Synonyms: lang: en
text: CMT2P
lang: en
text: E3 ubiquitin-protein ligase LRSAM1
lang: en
text: FLJ31641
lang: en
text: RIFLE
lang: en
text: RING finger leucine repeat rich
lang: en
text: TAL
lang: en
text: TSG 101-associated ligase
GeneType: Name: gene with protein product