TaoMedAI/RareMedData huggingface dataset:
Rare disease: Bloom syndrome (Orphanet code 125)
Associated genes:
Name: BLM RecQ like helicase
Symbol: BLM
Synonyms: lang: en
text: BS
lang: en
text: RECQ2
lang: en
text: RECQL3
GeneType: Name: gene with protein product
Rare disease: Argininemia (Orphanet code 90)
Associated genes:
Name: arginase 1
Symbol: ARG1
Synonyms: lang: en
text: arginase-1
GeneType: Name: gene with protein product
Rare disease: Aniridia-cerebellar ataxia-intellectual disability syndrome (Orphanet code 1065)
Associated genes:
Name: inositol 1,4,5-trisphosphate receptor type 1
Symbol: ITPR1
Synonyms: lang: en
text: ACV
lang: en
text: IP3R1
lang: en
text: Insp3r1
lang: en
text: PPP1R94
lang: en
text: protein phosphatase 1, regulatory subunit 94
GeneType: Name: gene with protein product
Name: paired box 6
Symbol: PAX6
Synonyms: lang: en
text: AN
lang: en
text: Aniridia 1
lang: en
text: Aniridia 2
lang: en
text: D11S812E
lang: en
text: WAGR
lang: en
text: aniridia, keratitis
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet code 168454)
Associated genes:
Name: N-acetylneuraminate synthase
Symbol: NANS
Synonyms: lang: en
text: SAS
lang: en
text: sialic acid synthase
GeneType: Name: gene with protein product
Rare disease: Distal arthrogryposis type 1 (Orphanet code 1146)
Associated genes:
Name: sodium leak channel, non-selective
Symbol: NALCN
Synonyms: lang: en
text: CanIon
lang: en
text: bA430M15.1
GeneType: Name: gene with protein product
Name: troponin I2, fast skeletal type
Symbol: TNNI2
Synonyms: lang: en
text: DA2B
lang: en
text: FSSV
lang: en
text: fsTnI
lang: en
text: troponin I fast twitch 2
lang: en
text: troponin I, fast-twitch skeletal muscle isoform
GeneType: Name: gene with protein product
Name: troponin T3, fast skeletal type
Symbol: TNNT3
Synonyms: lang: en
text: AMCD2B
lang: en
text: DA2B
lang: en
text: DKFZp779M2348
lang: en
text: FSSV
lang: en
text: troponin-T3, skeletal, fast
GeneType: Name: gene with protein product
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
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: myosin binding protein C1
Symbol: MYBPC1
Synonyms: lang: en
text: slow skeletal-type muscle myosin-binding-protein C
lang: en
text: ssMyBP-C
GeneType: Name: gene with protein product
Rare disease: Neurogenic arthrogryposis multiplex congenita (Orphanet code 1143)
Associated genes:
Name: SCY1 like pseudokinase 2
Symbol: SCYL2
Synonyms: lang: en
text: CVAK104
lang: en
text: KIAA1360
lang: en
text: coated vesicle-associated kinase of 104 kDa
GeneType: Name: gene with protein product
Name: collagen type XXV alpha 1 chain
Symbol: COL25A1
GeneType: Name: gene with protein product
Name: endoplasmic reticulum-golgi intermediate compartment 1
Symbol: ERGIC1
Synonyms: lang: en
text: ERGIC-32
lang: en
text: ERGIC32
lang: en
text: KIAA1181
lang: en
text: NET24
GeneType: Name: gene with protein product
Rare disease: Sheldon-Hall syndrome (Orphanet code 1147)
Associated genes:
Name: sodium leak channel, non-selective
Symbol: NALCN
Synonyms: lang: en
text: CanIon
lang: en
text: bA430M15.1
GeneType: Name: gene with protein product
Name: troponin I2, fast skeletal type
Symbol: TNNI2
Synonyms: lang: en
text: DA2B
lang: en
text: FSSV
lang: en
text: fsTnI
lang: en
text: troponin I fast twitch 2
lang: en
text: troponin I, fast-twitch skeletal muscle isoform
GeneType: Name: gene with protein product
Name: troponin T3, fast skeletal type
Symbol: TNNT3
Synonyms: lang: en
text: AMCD2B
lang: en
text: DA2B
lang: en
text: DKFZp779M2348
lang: en
text: FSSV
lang: en
text: troponin-T3, skeletal, fast
GeneType: Name: gene with protein product
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
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
Rare disease: Postaxial acrofacial dysostosis (Orphanet code 246)
Associated genes:
Name: dihydroorotate dehydrogenase (quinone)
Symbol: DHODH
GeneType: Name: gene with protein product
Rare disease: Dyskeratosis congenita (Orphanet code 1775)
Associated genes:
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
Name: dyskerin pseudouridine synthase 1
Symbol: DKC1
Synonyms: lang: en
text: Cbf5
lang: en
text: H/ACA ribonucleoprotein complex subunit 4
lang: en
text: NAP57
lang: en
text: NOLA4
lang: en
text: XAP101
lang: en
text: dyskerin
GeneType: Name: gene with protein product
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: telomerase RNA component
Symbol: TERC
Synonyms: lang: en
text: SCARNA19
lang: en
text: TER
lang: en
text: TR
lang: en
text: TRC3
lang: en
text: hTR
lang: en
text: small Cajal body-specific RNA 19
GeneType: Name: Non-coding RNA
Name: TERF1 interacting nuclear factor 2
Symbol: TINF2
Synonyms: lang: en
text: TIN2
GeneType: Name: gene with protein product
Name: NOP10 ribonucleoprotein
Symbol: NOP10
Synonyms: lang: en
text: MGC70651
lang: en
text: NOP10P
lang: en
text: homolog of yeast Nop10p
GeneType: Name: gene with protein product
Name: NHP2 ribonucleoprotein
Symbol: NHP2
Synonyms: lang: en
text: FLJ20479
GeneType: Name: gene with protein product
Name: U6 snRNA biogenesis phosphodiesterase 1
Symbol: USB1
Synonyms: lang: en
text: FLJ13154
lang: en
text: HVSL motif containing 1
lang: en
text: HVSL1
lang: en
text: Mpn1
lang: en
text: U six biogenesis 1
lang: en
text: mutated in poikiloderma with neutropenia protein 1
lang: en
text: poikiloderma with neutropenia
GeneType: Name: gene with protein product
Name: WD repeat containing antisense to TP53
Symbol: WRAP53
Synonyms: lang: en
text: FLJ10385
lang: en
text: TCAB1
lang: en
text: WD-encoding RNA antisense to p53
lang: en
text: telomerase cajal body protein 1
GeneType: Name: gene with protein product
Name: CST telomere replication complex component 1
Symbol: CTC1
Synonyms: lang: en
text: AAF132
lang: en
text: FLJ22170
lang: en
text: alpha accessory factor 132
lang: en
text: conserved telomere capping protein 1
lang: en
text: conserved telomere maintenance component 1
GeneType: Name: gene with protein product
Name: regulator of telomere elongation helicase 1
Symbol: RTEL1
Synonyms: lang: en
text: DKFZP434C013
lang: en
text: KIAA1088
lang: en
text: NHL
lang: en
text: RTEL
lang: en
text: bK3184A7.3
GeneType: Name: gene with protein product
Name: poly(A)-specific ribonuclease
Symbol: PARN
Synonyms: lang: en
text: DAN
lang: en
text: deadenylation nuclease
GeneType: Name: gene with protein product
Name: thymidylate synthetase
Symbol: TYMS
Synonyms: lang: en
text: HsT422
lang: en
text: TMS
lang: en
text: Tsase
GeneType: Name: gene with protein product
Rare disease: Familial dysautonomia (Orphanet code 1764)
Associated genes:
Name: elongator complex protein 1
Symbol: ELP1
Synonyms: lang: en
text: IKAP
lang: en
text: IKI3
lang: en
text: TOT1
lang: en
text: elongator acetyltransferase complex subunit 1
GeneType: Name: gene with protein product
Rare disease: Dubowitz syndrome (Orphanet code 235)
Associated genes:
Name: DNA ligase 4
Symbol: LIG4
Synonyms: lang: en
text: DNA joinase
lang: en
text: DNA ligase IV
lang: en
text: DNA repair enzyme
lang: en
text: polydeoxyribonucleotide synthase [ATP] 4
lang: en
text: polynucleotide ligase
lang: en
text: sealase
GeneType: Name: gene with protein product
Name: NOP2/Sun RNA methyltransferase 2
Symbol: NSUN2
Synonyms: lang: en
text: FLJ20303
lang: en
text: Misu
lang: en
text: Myc-induced SUN-domain-containing protein
lang: en
text: RNA cytosine C(5)-methyltransferase NSUN2
lang: en
text: SAKI
lang: en
text: TRM4
lang: en
text: tRNA methyltransferase 4 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Rare disease: Dyggve-Melchior-Clausen disease (Orphanet code 239)
Associated genes:
Name: dymeclin
Symbol: DYM
Synonyms: lang: en
text: DMC
lang: en
text: FLJ20071
lang: en
text: SMC
GeneType: Name: gene with protein product
Rare disease: Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet code 395)
Associated genes:
Name: methylenetetrahydrofolate reductase
Symbol: MTHFR
GeneType: Name: gene with protein product
Rare disease: Carbamoyl-phosphate synthetase 1 deficiency (Orphanet code 147)
Associated genes:
Name: carbamoyl-phosphate synthase 1
Symbol: CPS1
Synonyms: lang: en
text: GATD6
lang: en
text: carbamoyl-phosphate synthase (ammonia)
GeneType: Name: gene with protein product
Rare disease: Argininosuccinic aciduria (Orphanet code 23)
Associated genes:
Name: argininosuccinate lyase
Symbol: ASL
Synonyms: lang: en
text: ASAL
GeneType: Name: gene with protein product
Rare disease: Adenosine monophosphate deaminase deficiency (Orphanet code 45)
Associated genes:
Name: adenosine monophosphate deaminase 1
Symbol: AMPD1
Synonyms: lang: en
text: AMPD isoform M
lang: en
text: MAD
lang: en
text: MADA
lang: en
text: myoadenylate deaminase
lang: en
text: skeletal muscle AMPD
GeneType: Name: gene with protein product
Name: adenosine monophosphate deaminase 3
Symbol: AMPD3
Synonyms: lang: en
text: erythrocyte-specific AMP deaminase
GeneType: Name: gene with protein product
Rare disease: Dihydropteridine reductase deficiency (Orphanet code 226)
Associated genes:
Name: quinoid dihydropteridine reductase
Symbol: QDPR
Synonyms: lang: en
text: 6,7-dihydropteridine reductase
lang: en
text: DHPR
lang: en
text: PKU2
lang: en
text: SDR33C1
lang: en
text: short chain dehydrogenase/reductase family 33C, member 1
GeneType: Name: gene with protein product
Rare disease: Cutis marmorata telangiectatica congenita (Orphanet code 1556)
Associated genes:
Name: G protein subunit alpha 11
Symbol: GNA11
Synonyms: lang: en
text: FBH
lang: en
text: FBH2
lang: en
text: FHH2
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 6 interacting protein 6
Symbol: ARL6IP6
Synonyms: lang: en
text: MGC33864
GeneType: Name: gene with protein product
Rare disease: Corpus callosum agenesis-neuronopathy syndrome (Orphanet code 1496)
Associated genes:
Name: solute carrier family 12 member 6
Symbol: SLC12A6
Synonyms: lang: en
text: K-Cl cotransporter 3
lang: en
text: KCC3A
lang: en
text: KCC3B
GeneType: Name: gene with protein product
Rare disease: Neonatal severe primary hyperparathyroidism (Orphanet code 417)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 6
Symbol: TRPV6
Synonyms: lang: en
text: CaT1
GeneType: Name: gene with protein product
Name: calcium sensing receptor
Symbol: CASR
Synonyms: lang: en
text: FHH
lang: en
text: GPRC2A
lang: en
text: NSHPT
lang: en
text: severe neonatal hyperparathyroidism
GeneType: Name: gene with protein product
Rare disease: Hypoplastic left heart syndrome (Orphanet code 2248)
Associated genes:
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Congenital diaphragmatic hernia (Orphanet code 2140)
Associated genes:
Name: lon peptidase 1, mitochondrial
Symbol: LONP1
Synonyms: lang: en
text: LonHS
lang: en
text: Mitochondrial ATP-dependent protease Lon
lang: en
text: PIM1
lang: en
text: hLON
GeneType: Name: gene with protein product
Name: zinc finger protein, FOG family member 2
Symbol: ZFPM2
Synonyms: lang: en
text: FOG2
lang: en
text: ZC2HC11B
lang: en
text: ZNF89B
lang: en
text: hFOG-2
GeneType: Name: gene with protein product
Name: GATA binding protein 6
Symbol: GATA6
GeneType: Name: gene with protein product
Rare disease: Hartnup disease (Orphanet code 2116)
Associated genes:
Name: collectrin, amino acid transport regulator
Symbol: CLTRN
Synonyms: lang: en
text: NX17
lang: en
text: collectrin
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 19
Symbol: SLC6A19
Synonyms: lang: en
text: B0AT1
lang: en
text: Hartnup disease
lang: en
text: Sodium-dependent neutral amino acid transporter B(0)AT1
lang: en
text: broad neutral amino acid transporter 1
GeneType: Name: gene with protein product
Rare disease: Hawkinsinuria (Orphanet code 2118)
Associated genes:
Name: 4-hydroxyphenylpyruvate dioxygenase
Symbol: HPD
Synonyms: lang: en
text: 4-HPPD
lang: en
text: 4HPPD
lang: en
text: GLOD3
lang: en
text: HPPD
lang: en
text: glyoxalase domain containing 3
GeneType: Name: gene with protein product
Rare disease: Galactosialidosis (Orphanet code 351)
Associated genes:
Name: cathepsin A
Symbol: CTSA
Synonyms: lang: en
text: carboxypeptidase C
lang: en
text: carboxypeptidase Y-like kininase
lang: en
text: carboxypeptidase-L
lang: en
text: deamidase
lang: en
text: lysosomal carboxypeptidase A
lang: en
text: lysosomal protective protein
lang: en
text: urinary kininase
GeneType: Name: gene with protein product
Rare disease: Congenital fiber-type disproportion myopathy (Orphanet code 2020)
Associated genes:
Name: mitogen-activated protein kinase kinase kinase 20
Symbol: MAP3K20
Synonyms: lang: en
text: MLK7
lang: en
text: MLTK
lang: en
text: MLTKalpha
lang: en
text: MLTKbeta
lang: en
text: MRK
lang: en
text: ZAK
lang: en
text: ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)
lang: en
text: mixed lineage kinase 7
GeneType: Name: gene with protein product
Name: actin alpha 1, skeletal muscle
Symbol: ACTA1
Synonyms: lang: en
text: NEM3
lang: en
text: nemaline myopathy type 3
GeneType: Name: gene with protein product
Name: selenoprotein N
Symbol: SELENON
Synonyms: lang: en
text: RSS
lang: en
text: SELN
GeneType: Name: gene with protein product
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
Name: myosin light chain 2
Symbol: MYL2
Synonyms: lang: en
text: CMH10
lang: en
text: cardiac ventricular myosin light chain 2
GeneType: Name: gene with protein product
Name: integrin subunit alpha 7
Symbol: ITGA7
GeneType: Name: gene with protein product
Name: 3-hydroxyacyl-CoA dehydratase 1
Symbol: HACD1
Synonyms: lang: en
text: CAP
lang: en
text: Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
lang: en
text: cementum attachment protein
GeneType: Name: gene with protein product
Rare disease: Freeman-Sheldon syndrome (Orphanet code 2053)
Associated genes:
Name: sodium leak channel, non-selective
Symbol: NALCN
Synonyms: lang: en
text: CanIon
lang: en
text: bA430M15.1
GeneType: Name: gene with protein product
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
Rare disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet code 1933)
Associated genes:
Name: succinate-CoA ligase ADP-forming subunit beta
Symbol: SUCLA2
Synonyms: lang: en
text: succinate--CoA ligase (ADP-forming)
GeneType: Name: gene with protein product
Rare disease: Ebstein malformation of the tricuspid valve (Orphanet code 1880)
Associated genes:
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Rare disease: Isolated ectopia lentis (Orphanet code 1885)
Associated genes:
Name: fibrillin 1
Symbol: FBN1
Synonyms: lang: en
text: MASS
lang: en
text: Marfan syndrome
lang: en
text: OCTD
lang: en
text: SGS
lang: en
text: asprosin
GeneType: Name: gene with protein product
Name: ADAMTS like 4
Symbol: ADAMTSL4
Synonyms: lang: en
text: DKFZP434K1772
GeneType: Name: gene with protein product
Rare disease: Neuroblastoma (Orphanet code 635)
Associated genes:
Name: MYCN proto-oncogene, bHLH transcription factor
Symbol: MYCN
Synonyms: lang: en
text: MYCNOT
lang: en
text: N-myc
lang: en
text: bHLHe37
GeneType: Name: gene with protein product
Name: LIM domain only 1
Symbol: LMO1
Synonyms: lang: en
text: RHOM1
lang: en
text: TTG1
GeneType: Name: gene with protein product
Name: paired like homeobox 2B
Symbol: PHOX2B
Synonyms: lang: en
text: NBPhox
lang: en
text: Phox2b
GeneType: Name: gene with protein product
Name: ALK receptor tyrosine kinase
Symbol: ALK
Synonyms: lang: en
text: ALK1
lang: en
text: CD246
GeneType: Name: gene with protein product
Name: ALK receptor tyrosine kinase
Symbol: ALK
Synonyms: lang: en
text: ALK1
lang: en
text: CD246
GeneType: Name: gene with protein product
Name: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Symbol: HACE1
Synonyms: lang: en
text: KIAA1320
GeneType: Name: gene with protein product
Name: lin-28 homolog B
Symbol: LIN28B
Synonyms: lang: en
text: CSDD2
lang: en
text: FLJ16517
GeneType: Name: gene with protein product
Rare disease: Linear nevus sebaceus syndrome (Orphanet code 2612)
Associated genes:
Name: HRas proto-oncogene, GTPase
Symbol: HRAS
GeneType: Name: gene with protein product
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Name: NRAS proto-oncogene, GTPase
Symbol: NRAS
Synonyms: lang: en
text: N-ras
GeneType: Name: gene with protein product
Rare disease: Metatropic dysplasia (Orphanet code 2635)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Rare disease: Proximal myotonic myopathy (Orphanet code 606)
Associated genes:
Name: CCHC-type zinc finger nucleic acid binding protein
Symbol: CNBP
Synonyms: lang: en
text: CNBP1
lang: en
text: RNF163
lang: en
text: ZCCHC22
GeneType: Name: gene with protein product
Rare disease: Pendred syndrome (Orphanet code 705)
Associated genes:
Name: solute carrier family 26 member 4
Symbol: SLC26A4
Synonyms: lang: en
text: PDS
lang: en
text: Pendred syndrome
lang: en
text: pendrin
GeneType: Name: gene with protein product
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
Name: forkhead box I1
Symbol: FOXI1
Synonyms: lang: en
text: FREAC6
GeneType: Name: gene with protein product
Rare disease: Juvenile Paget disease (Orphanet code 2801)
Associated genes:
Name: TNF receptor superfamily member 11b
Symbol: TNFRSF11B
Synonyms: lang: en
text: OCIF
lang: en
text: TR1
lang: en
text: osteoclastogenesis inhibitory factor
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 11a
Symbol: TNFRSF11A
Synonyms: lang: en
text: CD265
lang: en
text: FEO
lang: en
text: ODFR
lang: en
text: RANK
lang: en
text: TRANCE receptor
lang: en
text: TRANCE-R
lang: en
text: familial expansile osteolysis
lang: en
text: osteoclast differentiation factor receptor
lang: en
text: receptor activator of nuclear factor kappa B
GeneType: Name: gene with protein product
Rare disease: Osteopetrosis with renal tubular acidosis (Orphanet code 2785)
Associated genes:
Name: carbonic anhydrase 2
Symbol: CA2
Synonyms: lang: en
text: CA-II
lang: en
text: CAII
lang: en
text: Car2
GeneType: Name: gene with protein product
Rare disease: Horizontal gaze palsy with progressive scoliosis (Orphanet code 2744)
Associated genes:
Name: DCC netrin 1 receptor
Symbol: DCC
Synonyms: lang: en
text: IGDCC1
lang: en
text: NTN1R1
lang: en
text: immunoglobulin superfamily, DCC subclass, member 1
GeneType: Name: gene with protein product
Name: roundabout guidance receptor 3
Symbol: ROBO3
Synonyms: lang: en
text: FLJ21044
lang: en
text: HGPS
lang: en
text: RBIG1
GeneType: Name: gene with protein product
Rare disease: Opsismodysplasia (Orphanet code 2746)
Associated genes:
Name: inositol polyphosphate phosphatase like 1
Symbol: INPPL1
Synonyms: lang: en
text: 51C protein
lang: en
text: SH2 domain-containing inositol 5'-phosphatase 2
lang: en
text: SHIP2
lang: en
text: phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
GeneType: Name: gene with protein product
Rare disease: Peroxisomal acyl-CoA oxidase deficiency (Orphanet code 2971)
Associated genes:
Name: acyl-CoA oxidase 1
Symbol: ACOX1
Synonyms: lang: en
text: PALMCOX
lang: en
text: palmitoyl-CoA oxidase
GeneType: Name: gene with protein product
Rare disease: Prune belly syndrome (Orphanet code 2970)
Associated genes:
Name: cholinergic receptor muscarinic 3
Symbol: CHRM3
Synonyms: lang: en
text: Acetylcholine receptor, muscarinic 3
lang: en
text: acetylcholine receptor, muscarinic 3
lang: en
text: m3AChR
GeneType: Name: gene with protein product
Rare disease: Proteus syndrome (Orphanet code 744)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: AKT serine/threonine kinase 1
Symbol: AKT1
Synonyms: lang: en
text: AKT
lang: en
text: PKB
lang: en
text: PRKBA
lang: en
text: RAC
lang: en
text: RAC-alpha
lang: en
text: protein kinase B
GeneType: Name: gene with protein product
Rare disease: Familial spontaneous pneumothorax (Orphanet code 2903)
Associated genes:
Name: folliculin
Symbol: FLCN
Synonyms: lang: en
text: BHD
lang: en
text: DENND8B
lang: en
text: MGC17998
lang: en
text: MGC23445
GeneType: Name: gene with protein product
Rare disease: Neuralgic amyotrophy (Orphanet code 2901)
Associated genes:
Name: septin 9
Symbol: SEPTIN9
Synonyms: lang: en
text: AF17q25
lang: en
text: KIAA0991
lang: en
text: MSF1
lang: en
text: Ov/Br septin
lang: en
text: PNUTL4
lang: en
text: SeptD1
lang: en
text: peanut-like 4 (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Isolated Pierre Robin syndrome (Orphanet code 718)
Associated genes:
Name: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Rare disease: Costello syndrome (Orphanet code 3071)
Associated genes:
Name: HRas proto-oncogene, GTPase
Symbol: HRAS
GeneType: Name: gene with protein product
Rare disease: Pycnodysostosis (Orphanet code 763)
Associated genes:
Name: cathepsin K
Symbol: CTSK
Synonyms: lang: en
text: PKND
GeneType: Name: gene with protein product