TaoMedAI/RareMedData huggingface dataset:
Rare disease: Autosomal dominant hyperinsulinism due to SUR1 deficiency (Orphanet code 276575)
Associated genes:
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Rare disease: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (Orphanet code 276598)
Associated genes:
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Rare disease: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (Orphanet code 276603)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Rare disease: Sporadic pheochromocytoma/secreting paraganglioma (Orphanet code 276621)
Associated genes:
Name: succinate dehydrogenase complex subunit D
Symbol: SDHD
Synonyms: lang: en
text: cybS
lang: en
text: small subunit of cytochrome b
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex iron sulfur subunit B
Symbol: SDHB
Synonyms: lang: en
text: iron-sulfur subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
GeneType: Name: gene with protein product
Name: DNA methyltransferase 3 alpha
Symbol: DNMT3A
GeneType: Name: gene with protein product
Name: endothelial PAS domain protein 1
Symbol: EPAS1
Synonyms: lang: en
text: HIF-1 alpha-like factor
lang: en
text: HIF2A
lang: en
text: HLF
lang: en
text: MOP2
lang: en
text: PASD2
lang: en
text: bHLHe73
GeneType: Name: gene with protein product
Name: von Hippel-Lindau tumor suppressor
Symbol: VHL
Synonyms: lang: en
text: VHL1
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Rare disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet code 276630)
Associated genes:
Name: ribosomal protein S6 kinase A3
Symbol: RPS6KA3
Synonyms: lang: en
text: HU-3
lang: en
text: RSK
lang: en
text: RSK2
GeneType: Name: gene with protein product
Rare disease: Spondylocarpotarsal synostosis (Orphanet code 3275)
Associated genes:
Name: myosin heavy chain 3
Symbol: MYH3
Synonyms: lang: en
text: HEMHC
lang: en
text: MYHC-EMB
lang: en
text: MYHSE1
lang: en
text: SMHCE
lang: en
text: muscle embryonic myosin heavy chain 3
lang: en
text: myosin, skeletal, heavy chain, embryonic 1
GeneType: Name: gene with protein product
Name: filamin B
Symbol: FLNB
Synonyms: lang: en
text: ABP-278
lang: en
text: FH1
lang: en
text: TABP
lang: en
text: TAP
lang: en
text: actin binding protein 278
lang: en
text: beta filamin
GeneType: Name: gene with protein product
Rare disease: Apolipoprotein A-I deficiency (Orphanet code 425)
Associated genes:
Name: apolipoprotein A1
Symbol: APOA1
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 1
Symbol: ABCA1
Synonyms: lang: en
text: TGD
lang: en
text: Tangier disease
GeneType: Name: gene with protein product
Rare disease: Tetraamelia-multiple malformations syndrome (Orphanet code 3301)
Associated genes:
Name: R-spondin 2
Symbol: RSPO2
Synonyms: lang: en
text: MGC35555
GeneType: Name: gene with protein product
Name: Wnt family member 3
Symbol: WNT3
Synonyms: lang: en
text: MGC131950
lang: en
text: MGC138321
lang: en
text: MGC138323
lang: en
text: WNT-3 proto-oncogene protein
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 36 (Orphanet code 276198)
Associated genes:
Name: NOP56 ribonucleoprotein
Symbol: NOP56
Synonyms: lang: en
text: SCA36
lang: en
text: spinocerebellar ataxia 36
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 35 (Orphanet code 276193)
Associated genes:
Name: transglutaminase 6
Symbol: TGM6
Synonyms: lang: en
text: SCA35
lang: en
text: TGY
lang: en
text: dJ734P14.3
lang: en
text: protein-glutamine gamma-glutamyltransferase 6
lang: en
text: spinocerebellar ataxia 35
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 32 (Orphanet code 276183)
Associated genes:
Name: spinocerebellar ataxia 32
Symbol: SCA32
GeneType: Name: Disorder-associated locus
Rare disease: Machado-Joseph disease type 1 (Orphanet code 276238)
Associated genes:
Name: ataxin 3
Symbol: ATXN3
Synonyms: lang: en
text: ATX3
lang: en
text: JOS
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 6, slowly progressing (Orphanet code 276223)
Associated genes:
Name: arylsulfatase B
Symbol: ARSB
Synonyms: lang: en
text: ASB
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 6, rapidly progressing (Orphanet code 276212)
Associated genes:
Name: arylsulfatase B
Symbol: ARSB
Synonyms: lang: en
text: ASB
GeneType: Name: gene with protein product
Rare disease: Machado-Joseph disease type 3 (Orphanet code 276244)
Associated genes:
Name: ataxin 3
Symbol: ATXN3
Synonyms: lang: en
text: ATX3
lang: en
text: JOS
GeneType: Name: gene with protein product
Rare disease: Machado-Joseph disease type 2 (Orphanet code 276241)
Associated genes:
Name: ataxin 3
Symbol: ATXN3
Synonyms: lang: en
text: ATX3
lang: en
text: JOS
GeneType: Name: gene with protein product
Rare disease: Hemihyperplasia-multiple lipomatosis syndrome (Orphanet code 276280)
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: Familial multinodular goiter (Orphanet code 276399)
Associated genes:
Name: kelch like ECH associated protein 1
Symbol: KEAP1
Synonyms: lang: en
text: INrf2
lang: en
text: KIAA0132
lang: en
text: KLHL19
lang: en
text: MGC10630
lang: en
text: MGC1114
lang: en
text: MGC20887
lang: en
text: MGC4407
lang: en
text: MGC9454
lang: en
text: kelch-like family member 19
GeneType: Name: gene with protein product
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Cardiospondylocarpofacial syndrome (Orphanet code 3238)
Associated genes:
Name: mitogen-activated protein kinase kinase kinase 7
Symbol: MAP3K7
Synonyms: lang: en
text: MEKK7
lang: en
text: TGF-beta activated kinase 1
GeneType: Name: gene with protein product
Rare disease: Multiple synostoses syndrome (Orphanet code 3237)
Associated genes:
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product
Name: noggin
Symbol: NOG
GeneType: Name: gene with protein product
Name: fibroblast growth factor 9
Symbol: FGF9
Synonyms: lang: en
text: glia-activating factor
GeneType: Name: gene with protein product
Rare disease: Hyperbiliverdinemia (Orphanet code 276405)
Associated genes:
Name: biliverdin reductase A
Symbol: BLVRA
Synonyms: lang: en
text: BVRA
lang: en
text: BVRalpha
lang: en
text: biliverdin reductase IXalpha
GeneType: Name: gene with protein product
Rare disease: Proximal symphalangism (Orphanet code 3250)
Associated genes:
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product
Name: noggin
Symbol: NOG
GeneType: Name: gene with protein product
Rare disease: Filippi syndrome (Orphanet code 3255)
Associated genes:
Name: cytoskeleton associated protein 2 like
Symbol: CKAP2L
Synonyms: lang: en
text: FLJ40629
lang: en
text: radial fiber and mitotic spindle
lang: en
text: radmis
GeneType: Name: gene with protein product
Rare disease: Hyperinsulinism due to UCP2 deficiency (Orphanet code 276556)
Associated genes:
Name: uncoupling protein 2
Symbol: UCP2
Synonyms: lang: en
text: SLC25A8
GeneType: Name: gene with protein product
Rare disease: Ogden syndrome (Orphanet code 276432)
Associated genes:
Name: N-alpha-acetyltransferase 10, NatA catalytic subunit
Symbol: NAA10
Synonyms: lang: en
text: DXS707
lang: en
text: TE2
lang: en
text: arrest defective protein 1
GeneType: Name: gene with protein product
Rare disease: Cleft lip/palate-ectodermal dysplasia syndrome (Orphanet code 3253)
Associated genes:
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
Rare disease: Lower motor neuron syndrome with late-adult onset (Orphanet code 276435)
Associated genes:
Name: coiled-coil-helix-coiled-coil-helix domain containing 10
Symbol: CHCHD10
Synonyms: lang: en
text: MIX17 homolog A
lang: en
text: MIX17A
lang: en
text: N27C7-4
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to ZAP70 deficiency (Orphanet code 911)
Associated genes:
Name: zeta chain of T-cell receptor associated protein kinase 70
Symbol: ZAP70
Synonyms: lang: en
text: STD
lang: en
text: ZAP-70
lang: en
text: tyrosine-protein kinase ZAP-70
GeneType: Name: gene with protein product
Rare disease: Mitochondrial trifunctional protein deficiency (Orphanet code 746)
Associated genes:
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Symbol: HADHA
Synonyms: lang: en
text: GBP
lang: en
text: LCEH
lang: en
text: LCHAD
lang: en
text: MTPA
lang: en
text: gastrin-binding protein
lang: en
text: long-chain 2-enoyl-CoA hydratase
lang: en
text: long-chain-3-hydroxyacyl-CoA dehydrogenase
lang: en
text: mitochondrial trifunctional protein, alpha subunit
GeneType: Name: gene with protein product
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Symbol: HADHB
Synonyms: lang: en
text: MTPB
lang: en
text: mitochondrial trifunctional protein, beta subunit
GeneType: Name: gene with protein product
Rare disease: Malonic aciduria (Orphanet code 943)
Associated genes:
Name: malonyl-CoA decarboxylase
Symbol: MLYCD
Synonyms: lang: en
text: MCD
lang: en
text: hMCD
GeneType: Name: gene with protein product
Rare disease: Hereditary methemoglobinemia (Orphanet code 621)
Associated genes:
Name: cytochrome b5 reductase 3
Symbol: CYB5R3
Synonyms: lang: en
text: B5R
lang: en
text: NADH-cytochrome b5 reductase 3
GeneType: Name: gene with protein product
Name: cytochrome b5 type A
Symbol: CYB5A
Synonyms: lang: en
text: MCB5
lang: en
text: Microsomal cytochrome b5
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to hepatic glycogen synthase deficiency (Orphanet code 2089)
Associated genes:
Name: glycogen synthase 2
Symbol: GYS2
GeneType: Name: gene with protein product
Rare disease: Dysbetalipoproteinemia (Orphanet code 412)
Associated genes:
Name: apolipoprotein E
Symbol: APOE
GeneType: Name: gene with protein product
Rare disease: Severe hereditary thrombophilia due to congenital protein S deficiency (Orphanet code 743)
Associated genes:
Name: protein S
Symbol: PROS1
GeneType: Name: gene with protein product
Rare disease: Familial hyperthyroidism due to mutations in TSH receptor (Orphanet code 424)
Associated genes:
Name: thyroid stimulating hormone receptor
Symbol: TSHR
Synonyms: lang: en
text: LGR3
GeneType: Name: gene with protein product
Rare disease: Congenital factor II deficiency (Orphanet code 325)
Associated genes:
Name: coagulation factor II, thrombin
Symbol: F2
Synonyms: lang: en
text: prepro-coagulation factor II
GeneType: Name: gene with protein product
Rare disease: Hyperimmunoglobulinemia D with periodic fever (Orphanet code 343)
Associated genes:
Name: mevalonate kinase
Symbol: MVK
Synonyms: lang: en
text: LH receptor mRNA-binding protein
lang: en
text: LRBP
lang: en
text: MK
lang: en
text: mevalonic aciduria
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency by defective expression of MHC class II (Orphanet code 572)
Associated genes:
Name: regulatory factor X5
Symbol: RFX5
GeneType: Name: gene with protein product
Name: regulatory factor X associated ankyrin containing protein
Symbol: RFXANK
Synonyms: lang: en
text: ANKRA1
lang: en
text: BLS
lang: en
text: DNA-binding protein RFXANK
lang: en
text: F14150_1
lang: en
text: MGC138628
lang: en
text: RFX-B
lang: en
text: RFX-Bdelta4
lang: en
text: ankyrin repeat-containing regulatory factor X-associated protein
lang: en
text: regulatory factor X subunit B
GeneType: Name: gene with protein product
Name: regulatory factor X associated protein
Symbol: RFXAP
GeneType: Name: gene with protein product
Name: class II major histocompatibility complex transactivator
Symbol: CIITA
Synonyms: lang: en
text: C2TA
lang: en
text: NLR family, acid domain containing
lang: en
text: NLRA
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
GeneType: Name: gene with protein product
Rare disease: Herpes simplex virus encephalitis (Orphanet code 1930)
Associated genes:
Name: unc-93 homolog B1, TLR signaling regulator
Symbol: UNC93B1
Synonyms: lang: en
text: UNC93
GeneType: Name: gene with protein product
Name: toll like receptor 3
Symbol: TLR3
Synonyms: lang: en
text: CD283
GeneType: Name: gene with protein product
Name: TIR domain containing adaptor molecule 1
Symbol: TICAM1
Synonyms: lang: en
text: MGC35334
lang: en
text: PRVTIRB
lang: en
text: TICAM-1
lang: en
text: TIR domain-containing adapter molecule 1
lang: en
text: TIR domain-containing adaptor-inducing interferon-beta
lang: en
text: TIR domain-containing adaptor-inducing interferon-ß
lang: en
text: TRIF
lang: en
text: proline-rich, vinculin and TIR domain-containing protein B
GeneType: Name: gene with protein product
Name: TNF receptor associated factor 3
Symbol: TRAF3
Synonyms: lang: en
text: CAP-1
lang: en
text: CD40bp
lang: en
text: CRAF1
lang: en
text: LAP1
lang: en
text: RNF118
GeneType: Name: gene with protein product
Name: TANK binding kinase 1
Symbol: TBK1
Synonyms: lang: en
text: NAK
GeneType: Name: gene with protein product
Rare disease: Systemic primary carnitine deficiency (Orphanet code 158)
Associated genes:
Name: solute carrier family 22 member 5
Symbol: SLC22A5
Synonyms: lang: en
text: OCTN2
lang: en
text: SCD
lang: en
text: organic cation/carnitine transporter 2
lang: en
text: systemic carnitine deficiency
GeneType: Name: gene with protein product
Rare disease: Essential fructosuria (Orphanet code 2056)
Associated genes:
Name: ketohexokinase
Symbol: KHK
Synonyms: lang: en
text: fructokinase
GeneType: Name: gene with protein product
Rare disease: Infantile Krabbe disease (Orphanet code 206436)
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: galactosylceramidase
Symbol: GALC
Synonyms: lang: en
text: Krabbe disease
GeneType: Name: gene with protein product
Rare disease: Sneddon syndrome (Orphanet code 820)
Associated genes:
Name: adenosine deaminase 2
Symbol: ADA2
Synonyms: lang: en
text: ADGF
GeneType: Name: gene with protein product
Rare disease: Rolandic epilepsy (Orphanet code 1945)
Associated genes:
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Symbol: GABRG2
Synonyms: lang: en
text: GABA(A) receptor, gamma 2
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
Name: sushi repeat containing protein X-linked 2
Symbol: SRPX2
Synonyms: lang: en
text: SRPUL
GeneType: Name: gene with protein product
Rare disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency (Orphanet code 832)
Associated genes:
Name: 3-oxoacid CoA-transferase 1
Symbol: OXCT1
Synonyms: lang: en
text: SCOT
lang: en
text: Succinyl-CoA:3-ketoacid-CoA transferase
GeneType: Name: gene with protein product
Rare disease: 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet code 6)
Associated genes:
Name: methylcrotonyl-CoA carboxylase subunit 1
Symbol: MCCC1
Synonyms: lang: en
text: 3-methylcrotonyl-CoA carboxylase biotin containing subunit
lang: en
text: MCCA
lang: en
text: MCCCa
lang: en
text: methylcrotonoyl-CoA carboxylase alpha
GeneType: Name: gene with protein product
Name: methylcrotonyl-CoA carboxylase subunit 2
Symbol: MCCC2
Synonyms: lang: en
text: 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit
lang: en
text: MCCB
lang: en
text: MCCCß
lang: en
text: methylcrotonoyl-CoA carboxylase beta
GeneType: Name: gene with protein product
Rare disease: 3-hydroxy-3-methylglutaric aciduria (Orphanet code 20)
Associated genes:
Name: 3-hydroxy-3-methylglutaryl-CoA lyase
Symbol: HMGCL
Synonyms: lang: en
text: HL
lang: en
text: HMG-CoA lyase
lang: en
text: HMGCL1
lang: en
text: Hydroxymethylglutaryl-CoA lyase, mitochondrial
lang: en
text: hydroxymethylglutaricaciduria
lang: en
text: hydroxymethylglutaryl-CoA lyase
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to diphosphoglycerate mutase deficiency (Orphanet code 714)
Associated genes:
Name: bisphosphoglycerate mutase
Symbol: BPGM
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to glucophosphate isomerase deficiency (Orphanet code 712)
Associated genes:
Name: glucose-6-phosphate isomerase
Symbol: GPI
Synonyms: lang: en
text: AMF
lang: en
text: NLK
GeneType: Name: gene with protein product
Rare disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet code 206546)
Associated genes:
Name: dystrophin
Symbol: DMD
Synonyms: lang: en
text: BMD
lang: en
text: DXS142
lang: en
text: DXS164
lang: en
text: DXS206
lang: en
text: DXS230
lang: en
text: DXS239
lang: en
text: DXS268
lang: en
text: DXS269
lang: en
text: DXS270
lang: en
text: DXS272
lang: en
text: muscular dystrophy, Duchenne and Becker types
GeneType: Name: gene with protein product
Rare disease: Fukutin-related limb-girdle muscular dystrophy R13 (Orphanet code 206554)
Associated genes:
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
GeneType: Name: gene with protein product
Rare disease: Anoctamin-5-related limb-girdle muscular dystrophy R12 (Orphanet code 206549)
Associated genes:
Name: anoctamin 5
Symbol: ANO5
Synonyms: lang: en
text: GDD1
GeneType: Name: gene with protein product
Rare disease: POMGNT1-related limb-girdle muscular dystrophy R15 (Orphanet code 206564)
Associated genes:
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol: POMGNT1
Synonyms: lang: en
text: FLJ20277
lang: en
text: LGMD2O
lang: en
text: MGAT1.2
lang: en
text: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Rare disease: POMT2-related limb-girdle muscular dystrophy R14 (Orphanet code 206559)
Associated genes:
Name: protein O-mannosyltransferase 2
Symbol: POMT2
Synonyms: lang: en
text: Dolichyl-phosphate-mannose--protein mannosyltransferase
lang: en
text: LGMD2N
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive lower motor neuron disease with childhood onset (Orphanet code 206580)
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: Late-infantile/juvenile Krabbe disease (Orphanet code 206443)
Associated genes:
Name: galactosylceramidase
Symbol: GALC
Synonyms: lang: en
text: Krabbe disease
GeneType: Name: gene with protein product
Rare disease: Adult Krabbe disease (Orphanet code 206448)
Associated genes:
Name: galactosylceramidase
Symbol: GALC
Synonyms: lang: en
text: Krabbe disease
GeneType: Name: gene with protein product
Rare disease: Hypomyelination neuropathy-arthrogryposis syndrome (Orphanet code 2680)
Associated genes:
Name: contactin associated protein 1
Symbol: CNTNAP1
Synonyms: lang: en
text: CNTNAP
lang: en
text: Caspr
lang: en
text: neurexin 4
lang: en
text: p190
GeneType: Name: gene with protein product
Name: adenylate cyclase 6
Symbol: ADCY6
Synonyms: lang: en
text: AC6
GeneType: Name: gene with protein product
Name: leucine rich repeat LGI family member 4
Symbol: LGI4
GeneType: Name: gene with protein product
Rare disease: Laron syndrome (Orphanet code 633)
Associated genes:
Name: growth hormone receptor
Symbol: GHR
Synonyms: lang: en
text: GHBP
lang: en
text: growth hormone binding protein
GeneType: Name: gene with protein product
Rare disease: Hereditary spherocytosis (Orphanet code 822)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Name: spectrin alpha, erythrocytic 1
Symbol: SPTA1
Synonyms: lang: en
text: EL2
lang: en
text: elliptocytosis 2
GeneType: Name: gene with protein product
Name: spectrin beta, erythrocytic
Symbol: SPTB
Synonyms: lang: en
text: spherocytosis, clinical type I
GeneType: Name: gene with protein product
Name: ankyrin 1
Symbol: ANK1
Synonyms: lang: en
text: SPH1
GeneType: Name: gene with protein product
Name: erythrocyte membrane protein band 4.2
Symbol: EPB42
Synonyms: lang: en
text: Erythrocyte surface protein band 4.2
lang: en
text: MGC116735
lang: en
text: MGC116737
lang: en
text: PA
GeneType: Name: gene with protein product