TaoMedAI/RareMedData huggingface dataset:
Rare disease: Immunodeficiency with factor H anomaly (Orphanet code 200421)
Associated genes:
Name: complement factor H
Symbol: CFH
Synonyms: lang: en
text: ARMD4
lang: en
text: ARMS1
lang: en
text: FHL1
lang: en
text: H factor 2 (complement)
lang: en
text: HUS
lang: en
text: age-related maculopathy susceptibility 1
lang: en
text: beta-1H
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant severe congenital neutropenia (Orphanet code 486)
Associated genes:
Name: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Symbol: TCIRG1
Synonyms: lang: en
text: ATP6N1C
lang: en
text: ATP6V0A3
lang: en
text: Atp6i
lang: en
text: OC-116
lang: en
text: OC116
lang: en
text: T-cell immune response cDNA 7
lang: en
text: TIRC7
lang: en
text: V-ATPase subunit a3
lang: en
text: a3
GeneType: Name: gene with protein product
Name: elastase, neutrophil expressed
Symbol: ELANE
Synonyms: lang: en
text: HLE
lang: en
text: HNE
lang: en
text: NE
lang: en
text: PMN Elastase
lang: en
text: PMN-E
lang: en
text: leukocyte elastase
lang: en
text: medullasin
lang: en
text: neutrophil elastase
lang: en
text: polymorphonuclear leukocyte elastase
GeneType: Name: gene with protein product
Name: growth factor independent 1 transcriptional repressor
Symbol: GFI1
Synonyms: lang: en
text: GFI-1
lang: en
text: GFI1A
GeneType: Name: gene with protein product
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
Name: signal recognition particle 19
Symbol: SRP19
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet code 98)
Associated genes:
Name: sacsin molecular chaperone
Symbol: SACS
Synonyms: lang: en
text: ARSACS
lang: en
text: DKFZp686B15167
lang: en
text: DNAJC29
lang: en
text: KIAA0730
lang: en
text: PPP1R138
lang: en
text: SPAX6
lang: en
text: protein phosphatase 1, regulatory subunit 138
GeneType: Name: gene with protein product
Rare disease: Congenital factor XII deficiency (Orphanet code 330)
Associated genes:
Name: coagulation factor XII
Symbol: F12
Synonyms: lang: en
text: Plasma coagulation Factor XIIa
GeneType: Name: gene with protein product
Rare disease: Stickler syndrome (Orphanet code 828)
Associated genes:
Name: bone morphogenetic protein 4
Symbol: BMP4
GeneType: Name: gene with protein product
Rare disease: Muscular dystrophy, Selcen type (Orphanet code 199340)
Associated genes:
Name: BAG cochaperone 3
Symbol: BAG3
Synonyms: lang: en
text: BAG family molecular chaperone regulator 3
GeneType: Name: gene with protein product
Rare disease: Pancreatic insufficiency-anemia-hyperostosis syndrome (Orphanet code 199337)
Associated genes:
Name: cytochrome c oxidase subunit 4I2
Symbol: COX4I2
Synonyms: lang: en
text: COX4-2
lang: en
text: COX4B
lang: en
text: COXIV-2
lang: en
text: cytochrome c oxidase subunit IV-like 2
lang: en
text: dJ857M17.2
GeneType: Name: gene with protein product
Rare disease: Dubin-Johnson syndrome (Orphanet code 234)
Associated genes:
Name: ATP binding cassette subfamily C member 2
Symbol: ABCC2
Synonyms: lang: en
text: DJS
lang: en
text: MRP2
lang: en
text: cMRP
GeneType: Name: gene with protein product
Rare disease: Thiamine-responsive encephalopathy (Orphanet code 199348)
Associated genes:
Name: solute carrier family 19 member 3
Symbol: SLC19A3
Synonyms: lang: en
text: THTR2
lang: en
text: hTHTR2
lang: en
text: thTr-2
lang: en
text: thiamine transporter 2
GeneType: Name: gene with protein product
Rare disease: Takayasu arteritis (Orphanet code 3287)
Associated genes:
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
Name: interleukin 12B
Symbol: IL12B
Synonyms: lang: en
text: CLMF
lang: en
text: CLMF2
lang: en
text: IL-12B
lang: en
text: IL12, subunit p40
lang: en
text: NKSF
lang: en
text: cytotoxic lymphocyte maturation factor 2, p40
lang: en
text: interleukin 12, p40
lang: en
text: interleukin-12 beta chain
lang: en
text: natural killer cell stimulatory factor, 40 kD subunit
lang: en
text: natural killer cell stimulatory factor-2
GeneType: Name: gene with protein product
Name: MAX dimerization protein MLX
Symbol: MLX
Synonyms: lang: en
text: MAD7
lang: en
text: MXD7
lang: en
text: bHLHd13
GeneType: Name: gene with protein product
Rare disease: EAST syndrome (Orphanet code 199343)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 10
Symbol: KCNJ10
Synonyms: lang: en
text: Kir1.2
lang: en
text: Kir4.1
GeneType: Name: gene with protein product
Rare disease: Isolated autosomal dominant hypomagnesemia, Glaudemans type (Orphanet code 199326)
Associated genes:
Name: potassium voltage-gated channel subfamily A member 1
Symbol: KCNA1
Synonyms: lang: en
text: HUK1
lang: en
text: Kv1.1
lang: en
text: MBK1
lang: en
text: RBK1
GeneType: Name: gene with protein product
Rare disease: Endocrine-cerebro-osteodysplasia syndrome (Orphanet code 199332)
Associated genes:
Name: ciliogenesis associated kinase 1
Symbol: CILK1
Synonyms: lang: en
text: KIAA0936
lang: en
text: LCK2
lang: en
text: MAK-related kinase
lang: en
text: MGC46090
lang: en
text: MRK
lang: en
text: serine/threonine-protein kinase ICK
GeneType: Name: gene with protein product
Rare disease: Congenital myopathy, Paradas type (Orphanet code 199329)
Associated genes:
Name: dysferlin
Symbol: DYSF
Synonyms: lang: en
text: FER1L1
lang: en
text: fer-1-like family member 1
GeneType: Name: gene with protein product
Rare disease: Congenital mesoblastic nephroma (Orphanet code 2665)
Associated genes:
Name: ETS variant transcription factor 6
Symbol: ETV6
Synonyms: lang: en
text: TEL
lang: en
text: TEL oncogene
GeneType: Name: gene with protein product
Name: neurotrophic receptor tyrosine kinase 3
Symbol: NTRK3
Synonyms: lang: en
text: TRKC
GeneType: Name: gene with protein product
Rare disease: Wolfram syndrome (Orphanet code 3463)
Associated genes:
Name: wolframin ER transmembrane glycoprotein
Symbol: WFS1
Synonyms: lang: en
text: DIDMOAD
lang: en
text: WFS
GeneType: Name: gene with protein product
Name: CDGSH iron sulfur domain 2
Symbol: CISD2
Synonyms: lang: en
text: ERIS
lang: en
text: Miner1
lang: en
text: NAF-1
lang: en
text: endoplasmic reticulum intermembrane small protein
lang: en
text: mitoNEET related 1
lang: en
text: nutrient-deprivation autophagy factor-1
GeneType: Name: gene with protein product
Rare disease: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy (Orphanet code 199354)
Associated genes:
Name: HtrA serine peptidase 1
Symbol: HTRA1
Synonyms: lang: en
text: ARMD7
lang: en
text: HtrA
lang: en
text: IGFBP5-protease
GeneType: Name: gene with protein product
Rare disease: Adult-onset dystonia-parkinsonism (Orphanet code 199351)
Associated genes:
Name: phospholipase A2 group VI
Symbol: PLA2G6
Synonyms: lang: en
text: NBIA2
lang: en
text: Neurodegeneration with brain iron accumulation 2
lang: en
text: PARK14
lang: en
text: PNPLA9
lang: en
text: iPLA2
lang: en
text: iPLA2beta
lang: en
text: neurodegeneration with brain iron accumulation 2
GeneType: Name: gene with protein product
Rare disease: Gerstmann-Straussler-Scheinker syndrome (Orphanet code 356)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Fatal familial insomnia (Orphanet code 466)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Whipple disease (Orphanet code 3452)
Associated genes:
Name: interferon regulatory factor 4
Symbol: IRF4
Synonyms: lang: en
text: LSIRF
GeneType: Name: gene with protein product
Rare disease: Hereditary hypercarotenemia and vitamin A deficiency (Orphanet code 199285)
Associated genes:
Name: beta-carotene oxygenase 1
Symbol: BCO1
Synonyms: lang: en
text: BCMO
lang: en
text: FLJ10730
GeneType: Name: gene with protein product
Rare disease: GTP cyclohydrolase I deficiency (Orphanet code 2102)
Associated genes:
Name: GTP cyclohydrolase 1
Symbol: GCH1
Synonyms: lang: en
text: DYT5a
lang: en
text: GTP cyclohydrolase I
lang: en
text: GTPCH1
lang: en
text: dopa-responsive dystonia
GeneType: Name: gene with protein product
Rare disease: Immune thrombocytopenia (Orphanet code 3002)
Associated genes:
Name: Fc gamma receptor IIc (gene/pseudogene)
Symbol: FCGR2C
Synonyms: lang: en
text: CD32C
lang: en
text: Fc gamma receptor IIc
lang: en
text: Fc-gamma-RIIc
lang: en
text: FcgammaRIIc
lang: en
text: hFcRII-C
GeneType: Name: gene with protein product
Rare disease: 15q13.3 microdeletion syndrome (Orphanet code 199318)
Associated genes:
Name: cholinergic receptor nicotinic alpha 7 subunit
Symbol: CHRNA7
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, alpha 7 (neuronal)
GeneType: Name: gene with protein product
Rare disease: Bernard-Soulier syndrome (Orphanet code 274)
Associated genes:
Name: glycoprotein Ib platelet subunit alpha
Symbol: GP1BA
Synonyms: lang: en
text: CD42b
lang: en
text: GPIbalpha
lang: en
text: platelet glycoprotein Ib alpha chain
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: glycoprotein IX platelet
Symbol: GP9
Synonyms: lang: en
text: CD42a
lang: en
text: GPIX
lang: en
text: platelet glycoprotein IX
GeneType: Name: gene with protein product
Rare disease: Congenital atransferrinemia (Orphanet code 1195)
Associated genes:
Name: transferrin
Symbol: TF
Synonyms: lang: en
text: PRO1557
lang: en
text: PRO2086
lang: en
text: serotransferrin
GeneType: Name: gene with protein product
Rare disease: Isolated cleft lip (Orphanet code 199302)
Associated genes:
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Name: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Name: nectin cell adhesion molecule 1
Symbol: NECTIN1
Synonyms: lang: en
text: CD111
lang: en
text: CLPED1
lang: en
text: HIgR
lang: en
text: Nectin-1
lang: en
text: OFC7
lang: en
text: PRR
lang: en
text: PRR1
lang: en
text: PVRR1
lang: en
text: SK-12
lang: en
text: nectin
GeneType: Name: gene with protein product
Name: msh homeobox 1
Symbol: MSX1
Synonyms: lang: en
text: HYD1
lang: en
text: OFC5
GeneType: Name: gene with protein product
Rare disease: Cleft lip/palate (Orphanet code 199306)
Associated genes:
Name: Rho GTPase activating protein 29
Symbol: ARHGAP29
Synonyms: lang: en
text: PARG1
GeneType: Name: gene with protein product
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 4
Symbol: BMP4
GeneType: Name: gene with protein product
Name: cordon-bleu WH2 repeat protein like 1
Symbol: COBLL1
Synonyms: lang: en
text: KIAA0977
GeneType: Name: gene with protein product
Name: RIC1 homolog, RAB6A GEF complex partner 1
Symbol: RIC1
Synonyms: lang: en
text: bA207C16.1
GeneType: Name: gene with protein product
Name: nectin cell adhesion molecule 1
Symbol: NECTIN1
Synonyms: lang: en
text: CD111
lang: en
text: CLPED1
lang: en
text: HIgR
lang: en
text: Nectin-1
lang: en
text: OFC7
lang: en
text: PRR
lang: en
text: PRR1
lang: en
text: PVRR1
lang: en
text: SK-12
lang: en
text: nectin
GeneType: Name: gene with protein product
Name: Rho guanine nucleotide exchange factor 38
Symbol: ARHGEF38
Synonyms: lang: en
text: FLJ20184
GeneType: Name: gene with protein product
Name: cadherin 1
Symbol: CDH1
Synonyms: lang: en
text: CD324
lang: en
text: E-Cadherin
lang: en
text: uvomorulin
GeneType: Name: gene with protein product
Name: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor alpha
Symbol: PDGFRA
Synonyms: lang: en
text: CD140a
lang: en
text: GAS9
lang: en
text: PDGFR2
GeneType: Name: gene with protein product
Name: msh homeobox 1
Symbol: MSX1
Synonyms: lang: en
text: HYD1
lang: en
text: OFC5
GeneType: Name: gene with protein product
Name: discs large MAGUK scaffold protein 1
Symbol: DLG1
Synonyms: lang: en
text: DLGH1
lang: en
text: SAP-97
lang: en
text: SAP97
lang: en
text: dJ1061C18.1.1
lang: en
text: discs large homolog 1
lang: en
text: hdlg
lang: en
text: presynaptic protein SAP97
lang: en
text: synapse-associated protein 97
GeneType: Name: gene with protein product
Name: distal-less homeobox 4
Symbol: DLX4
Synonyms: lang: en
text: BP1
lang: en
text: DLX8
GeneType: Name: gene with protein product
Rare disease: Acatalasemia (Orphanet code 926)
Associated genes:
Name: catalase
Symbol: CAT
GeneType: Name: gene with protein product
Rare disease: Congenital isolated ACTH deficiency (Orphanet code 199296)
Associated genes:
Name: T-box transcription factor 19
Symbol: TBX19
Synonyms: lang: en
text: TBS 19
lang: en
text: TPIT
lang: en
text: dj747L4.1
GeneType: Name: gene with protein product
Rare disease: Dihydropyrimidine dehydrogenase deficiency (Orphanet code 1675)
Associated genes:
Name: dihydropyrimidine dehydrogenase
Symbol: DPYD
Synonyms: lang: en
text: DHPDHase
lang: en
text: DPD
lang: en
text: Dihydrothymine dehydrogenase
lang: en
text: Dihydrouracil dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Cushing syndrome due to bilateral macronodular adrenocortical disease (Orphanet code 189427)
Associated genes:
Name: lysine demethylase 1A
Symbol: KDM1A
Synonyms: lang: en
text: BHC110
lang: en
text: KIAA0601
lang: en
text: LSD1
lang: en
text: Lysine-specific histone demethylase 1A
GeneType: Name: gene with protein product
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Name: armadillo repeat containing 5
Symbol: ARMC5
Synonyms: lang: en
text: FLJ13063
GeneType: Name: gene with protein product
Rare disease: Adenine phosphoribosyltransferase deficiency (Orphanet code 976)
Associated genes:
Name: adenine phosphoribosyltransferase
Symbol: APRT
GeneType: Name: gene with protein product
Rare disease: Sarcosinemia (Orphanet code 3129)
Associated genes:
Name: sarcosine dehydrogenase
Symbol: SARDH
Synonyms: lang: en
text: SDH
GeneType: Name: gene with protein product
Rare disease: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (Orphanet code 415)
Associated genes:
Name: solute carrier family 25 member 15
Symbol: SLC25A15
Synonyms: lang: en
text: D13S327
lang: en
text: Mitochondrial ornithine transporter 1
lang: en
text: ORC1
lang: en
text: ornithine carrier 1
lang: en
text: ornithine transporter 1
GeneType: Name: gene with protein product
Rare disease: 6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet code 13)
Associated genes:
Name: 6-pyruvoyltetrahydropterin synthase
Symbol: PTS
Synonyms: lang: en
text: PTPS
GeneType: Name: gene with protein product
Rare disease: Primary sclerosing cholangitis (Orphanet code 171)
Associated genes:
Name: semaphorin 4D
Symbol: SEMA4D
Synonyms: lang: en
text: CD100
lang: en
text: FLJ39737
lang: en
text: M-sema G
lang: en
text: coll-4
GeneType: Name: gene with protein product
Name: G protein-coupled receptor 35
Symbol: GPR35
GeneType: Name: gene with protein product
Name: macrophage stimulating 1
Symbol: MST1
Synonyms: lang: en
text: MSP
lang: en
text: NF15S2
GeneType: Name: gene with protein product
Name: transcription factor 4
Symbol: TCF4
Synonyms: lang: en
text: E2-2
lang: en
text: ITF2
lang: en
text: SEF2-1B
lang: en
text: SL3-3 enhancer factor 2
lang: en
text: bHLHb19
lang: en
text: class B basic helix-loop-helix protein 19
lang: en
text: immunoglobulin transcription factor 2
GeneType: Name: gene with protein product
Rare disease: Corticosteroid-binding globulin deficiency (Orphanet code 199247)
Associated genes:
Name: serpin family A member 6
Symbol: SERPINA6
Synonyms: lang: en
text: corticosteroid binding globulin
lang: en
text: transcortin
GeneType: Name: gene with protein product
Rare disease: Pulmonary capillary hemangiomatosis (Orphanet code 199241)
Associated genes:
Name: eukaryotic translation initiation factor 2 alpha kinase 4
Symbol: EIF2AK4
Synonyms: lang: en
text: GCN2
lang: en
text: KIAA1338
lang: en
text: eIF-2-alpha kinase
GeneType: Name: gene with protein product
Rare disease: Familial isolated hypoparathyroidism due to impaired PTH secretion (Orphanet code 189466)
Associated genes:
Name: parathyroid hormone
Symbol: PTH
Synonyms: lang: en
text: PTH1
lang: en
text: parathormone
lang: en
text: parathyrin
lang: en
text: parathyroid hormone 1
lang: en
text: prepro-PTH
lang: en
text: preproparathyroid hormone
GeneType: Name: gene with protein product
Name: autoimmune regulator
Symbol: AIRE
Synonyms: lang: en
text: APS1
lang: en
text: PGA1
lang: en
text: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
GeneType: Name: gene with protein product
Rare disease: Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet code 17)
Associated genes:
Name: succinate-CoA ligase GDP/ADP-forming subunit alpha
Symbol: SUCLG1
GeneType: Name: gene with protein product
Rare disease: Pyridoxine-dependent epilepsy (Orphanet code 3006)
Associated genes:
Name: aldehyde dehydrogenase 7 family member A1
Symbol: ALDH7A1
Synonyms: lang: en
text: 26g turgor protein homolog
lang: en
text: EPD
lang: en
text: P6c dehydrogenase
lang: en
text: PDE
lang: en
text: alpha-AASA dehydrogenase
lang: en
text: alpha-aminoadipic semialdehyde dehydrogenase
lang: en
text: antiquitin 1
lang: en
text: delta1-piperideine-6-carboxylate dehydrogenease
GeneType: Name: gene with protein product
Name: pyridoxal phosphate binding protein
Symbol: PLPBP
GeneType: Name: gene with protein product
Rare disease: Rotor syndrome (Orphanet code 3111)
Associated genes:
Name: solute carrier organic anion transporter family member 1B1
Symbol: SLCO1B1
Synonyms: lang: en
text: LST-1
lang: en
text: OATP-C
lang: en
text: OATP1B1
GeneType: Name: gene with protein product
Name: solute carrier organic anion transporter family member 1B3
Symbol: SLCO1B3
Synonyms: lang: en
text: OATP1B3
lang: en
text: OATP8
GeneType: Name: gene with protein product
Rare disease: Lennox-Gastaut syndrome (Orphanet code 2382)
Associated genes:
Name: cut like homeobox 2
Symbol: CUX2
Synonyms: lang: en
text: CDP2
lang: en
text: KIAA0293
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase 10
Symbol: MAPK10
Synonyms: lang: en
text: JNK3
lang: en
text: p493F12
lang: en
text: p54bSAPK
GeneType: Name: gene with protein product
Name: chromodomain helicase DNA binding protein 2
Symbol: CHD2
Synonyms: lang: en
text: DKFZp547I1315
lang: en
text: DKFZp686E01200
lang: en
text: DKFZp781D1727
lang: en
text: FLJ38614
GeneType: Name: gene with protein product
Name: dynamin 1
Symbol: DNM1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit beta3
Symbol: GABRB3
Synonyms: lang: en
text: GABA(A) receptor, beta 3
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Rare disease: Myoclonic-astatic epilepsy (Orphanet code 1942)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Name: synaptic Ras GTPase activating protein 1
Symbol: SYNGAP1
Synonyms: lang: en
text: KIAA1938
lang: en
text: RASA5
lang: en
text: SYNGAP
GeneType: Name: gene with protein product
Name: neurite extension and migration factor
Symbol: NEXMIF
Synonyms: lang: en
text: KIDLIA
lang: en
text: MRX98
lang: en
text: XLMR-related protein, neurite extension
lang: en
text: XPN
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
Name: chromodomain helicase DNA binding protein 2
Symbol: CHD2
Synonyms: lang: en
text: DKFZp547I1315
lang: en
text: DKFZp686E01200
lang: en
text: DKFZp781D1727
lang: en
text: FLJ38614
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 1
Symbol: SLC6A1
Synonyms: lang: en
text: GABA transporter 1
lang: en
text: GABATHG
lang: en
text: GABATR
lang: en
text: GAT-1
lang: en
text: GAT1
lang: en
text: Sodium- and chloride-dependent GABA transporter 1
lang: en
text: hGAT-1
GeneType: Name: gene with protein product
Name: adaptor related protein complex 2 subunit mu 1
Symbol: AP2M1
Synonyms: lang: en
text: AP-2 mu 2 chain
lang: en
text: AP50
lang: en
text: HA2 50 kDA subunit
lang: en
text: clathrin adaptor complex AP2, mu subunit
lang: en
text: clathrin assembly protein complex 2 medium chain
lang: en
text: clathrin coat adaptor protein AP50
lang: en
text: clathrin-associated/assembly/adaptor protein, medium 1
lang: en
text: mu2
lang: en
text: plasma membrane adaptor AP-2 50kDA protein
GeneType: Name: gene with protein product
Rare disease: Early myoclonic encephalopathy (Orphanet code 1935)
Associated genes:
Name: solute carrier family 25 member 22
Symbol: SLC25A22
Synonyms: lang: en
text: EIEE3
lang: en
text: Early infantile epileptic encephalopathy 3
lang: en
text: FLJ13044
lang: en
text: GC-1
lang: en
text: GC1
lang: en
text: NET44
GeneType: Name: gene with protein product
Name: salt inducible kinase 1
Symbol: SIK1
Synonyms: lang: en
text: msk
lang: en
text: myocardial SNF1-like kinase
GeneType: Name: gene with protein product