TaoMedAI/RareMedData huggingface dataset:
Rare disease: Xeroderma pigmentosum (Orphanet code 910)
Associated genes:
Name: XPA, DNA damage recognition and repair factor
Symbol: XPA
Synonyms: lang: en
text: XP1
lang: en
text: XPAC
GeneType: Name: gene with protein product
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
Symbol: ERCC3
Synonyms: lang: en
text: BTF2
lang: en
text: GTF2H
lang: en
text: RAD25
lang: en
text: Ssl2
lang: en
text: TFIIH
lang: en
text: XPB
lang: en
text: xeroderma pigmentosum group B complementing
GeneType: Name: gene with protein product
Name: XPC complex subunit, DNA damage recognition and repair factor
Symbol: XPC
Synonyms: lang: en
text: RAD4
lang: en
text: XPCC
lang: en
text: xeroderma pigmentosum group C protein
GeneType: Name: gene with protein product
Name: damage specific DNA binding protein 2
Symbol: DDB2
Synonyms: lang: en
text: DDB p48 subunit
lang: en
text: DDBB
lang: en
text: FLJ34321
lang: en
text: UV-DDB2
lang: en
text: UV-damaged DNA-binding protein 2
lang: en
text: XPE
lang: en
text: xeroderma pigmentosum group E protein
GeneType: Name: gene with protein product
Name: ERCC excision repair 4, endonuclease catalytic subunit
Symbol: ERCC4
Synonyms: lang: en
text: FANCQ
lang: en
text: RAD1
lang: en
text: xeroderma pigmentosum, complementation group F
GeneType: Name: gene with protein product
Name: ERCC excision repair 5, endonuclease
Symbol: ERCC5
Synonyms: lang: en
text: Cockayne syndrome
GeneType: Name: gene with protein product
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Symbol: ERCC2
Synonyms: lang: en
text: EM9
lang: en
text: MAG
lang: en
text: MGC102762
lang: en
text: MGC126218
lang: en
text: MGC126219
lang: en
text: TFIIH
lang: en
text: TFIIH basal transcription factor complex helicase XPB subunit
lang: en
text: excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
GeneType: Name: gene with protein product
Rare disease: Familial aortic dissection (Orphanet code 229)
Associated genes:
Name: myosin heavy chain 11
Symbol: MYH11
Synonyms: lang: en
text: SMHC
lang: en
text: SMMHC
lang: en
text: SMMS-1
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet code 766)
Associated genes:
Name: pyruvate kinase L/R
Symbol: PKLR
GeneType: Name: gene with protein product
Rare disease: Isolated asymptomatic elevation of creatine phosphokinase (Orphanet code 206599)
Associated genes:
Name: caveolin 3
Symbol: CAV3
Synonyms: lang: en
text: LGMD1C
lang: en
text: LQT9
lang: en
text: M-caveolin
lang: en
text: VIP-21
lang: en
text: VIP21
GeneType: Name: gene with protein product
Rare disease: Stüve-Wiedemann syndrome (Orphanet code 3206)
Associated genes:
Name: LIF receptor subunit alpha
Symbol: LIFR
Synonyms: lang: en
text: CD118
GeneType: Name: gene with protein product
Rare disease: Adult polyglucosan body disease (Orphanet code 206583)
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: Multiple osteochondromas (Orphanet code 321)
Associated genes:
Name: exostosin glycosyltransferase 1
Symbol: EXT1
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: ttv
GeneType: Name: gene with protein product
Name: exostosin glycosyltransferase 2
Symbol: EXT2
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: SOTV
GeneType: Name: gene with protein product
Rare disease: Lynch syndrome (Orphanet code 144)
Associated genes:
Name: mutS homolog 6
Symbol: MSH6
Synonyms: lang: en
text: MSH-6
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: PMS1 homolog 1, mismatch repair system component
Symbol: PMS1
Synonyms: lang: en
text: MLH2
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 2
Symbol: TGFBR2
Synonyms: lang: en
text: TBR-ii
lang: en
text: TBRII
GeneType: Name: gene with protein product
Name: mutS homolog 2
Symbol: MSH2
Synonyms: lang: en
text: DNA mismatch repair protein Msh2
lang: en
text: HNPCC
lang: en
text: HNPCC1
lang: en
text: MSH-2
GeneType: Name: gene with protein product
Name: epithelial cell adhesion molecule
Symbol: EPCAM
Synonyms: lang: en
text: 17-1A
lang: en
text: 323/A3
lang: en
text: Ber-Ep4
lang: en
text: BerEp4
lang: en
text: CD326
lang: en
text: CO-17A
lang: en
text: EGP-2
lang: en
text: EGP34
lang: en
text: EGP40
lang: en
text: ESA
lang: en
text: Ep-CAM
lang: en
text: GA733-2
lang: en
text: HEA125
lang: en
text: KS1/4
lang: en
text: KSA
lang: en
text: Ly74
lang: en
text: MH99
lang: en
text: MK-1
lang: en
text: MOC-31
lang: en
text: MOC31
lang: en
text: TACST-1
lang: en
text: TROP1
lang: en
text: trophoblast cell surface antigen 1
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Name: PMS1 homolog 2, mismatch repair system component
Symbol: PMS2
Synonyms: lang: en
text: HNPCC4
lang: en
text: H_DJ0042M02.9
lang: en
text: MLH4
lang: en
text: PMS-2
GeneType: Name: gene with protein product
Name: mutL homolog 1
Symbol: MLH1
Synonyms: lang: en
text: FCC2
lang: en
text: HNPCC
lang: en
text: HNPCC2
lang: en
text: MLH-1
GeneType: Name: gene with protein product
Rare disease: Atypical Rett syndrome (Orphanet code 3095)
Associated genes:
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Name: netrin G1
Symbol: NTNG1
Synonyms: lang: en
text: KIAA0976
lang: en
text: Lmnt1
lang: en
text: NetG1
lang: en
text: Netrin-G1
lang: en
text: NetrinG1
lang: en
text: laminet-1
lang: en
text: netrin G1f
GeneType: Name: gene with protein product
Name: cyclin dependent kinase like 5
Symbol: CDKL5
Synonyms: lang: en
text: CFAP247
lang: en
text: EIEE2
GeneType: Name: gene with protein product
Name: structural maintenance of chromosomes 1A
Symbol: SMC1A
Synonyms: lang: en
text: DXS423E
lang: en
text: KIAA0178
lang: en
text: SB1.8
lang: en
text: Smcb
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type B receptor subunit 2
Symbol: GABBR2
Synonyms: lang: en
text: GABABR2
lang: en
text: GPRC3B
lang: en
text: HG20
GeneType: Name: gene with protein product
Rare disease: Aplasia cutis congenita (Orphanet code 1114)
Associated genes:
Name: plectin
Symbol: PLEC
Synonyms: lang: en
text: PCN
lang: en
text: PLTN
GeneType: Name: gene with protein product
Name: integrin subunit beta 4
Symbol: ITGB4
Synonyms: lang: en
text: CD104
GeneType: Name: gene with protein product
Name: BMS1 ribosome biogenesis factor
Symbol: BMS1
Synonyms: lang: en
text: KIAA0187
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 4
Symbol: DLL4
GeneType: Name: gene with protein product
Name: ubiquitin like modifier activating enzyme 2
Symbol: UBA2
Synonyms: lang: en
text: FLJ13058
lang: en
text: HRIHFB2115
lang: en
text: UBA2, ubiquitin-activating enzyme E1 homolog (yeast)
GeneType: Name: gene with protein product
Rare disease: Aymé-Gripp syndrome (Orphanet code 1272)
Associated genes:
Name: MAF bZIP transcription factor
Symbol: MAF
Synonyms: lang: en
text: c-MAF
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 29 (Orphanet code 208513)
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
Rare disease: Bilateral generalized polymicrogyria (Orphanet code 208447)
Associated genes:
Name: glutamate ionotropic receptor NMDA type subunit 1
Symbol: GRIN1
Synonyms: lang: en
text: GluN1
lang: en
text: NR1
GeneType: Name: gene with protein product
Rare disease: Nicolaides-Baraitser syndrome (Orphanet code 3051)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Symbol: SMARCA2
Synonyms: lang: en
text: BAF190
lang: en
text: BRM
lang: en
text: SNF2
lang: en
text: SNF2LA
lang: en
text: SWI2
lang: en
text: Sth1p
lang: en
text: brahma homolog
lang: en
text: hBRM
lang: en
text: hSNF2a
GeneType: Name: gene with protein product
Rare disease: Bilateral parasagittal parieto-occipital polymicrogyria (Orphanet code 208441)
Associated genes:
Name: FIG4 phosphoinositide 5-phosphatase
Symbol: FIG4
Synonyms: lang: en
text: ALS11
lang: en
text: CMT4J
lang: en
text: SAC3
lang: en
text: dJ249I4.1
lang: en
text: hSac3
GeneType: Name: gene with protein product
Rare disease: Progeroid syndrome, Petty type (Orphanet code 2963)
Associated genes:
Name: solute carrier family 25 member 24
Symbol: SLC25A24
Synonyms: lang: en
text: APC1
lang: en
text: ATP-Mg/P(i) co-transporter 1
lang: en
text: Calcium-binding mitochondrial carrier protein SCaMC-1
lang: en
text: DKFZp586G0123
lang: en
text: SCAMC-1
lang: en
text: SCAMC1
lang: en
text: small calcium-binding mitochondrial carrier protein 1
GeneType: Name: gene with protein product
Rare disease: Craniosynostosis, Boston type (Orphanet code 1541)
Associated genes:
Name: msh homeobox 2
Symbol: MSX2
Synonyms: lang: en
text: CRS2
lang: en
text: FPP
lang: en
text: HOX8
lang: en
text: MSH
lang: en
text: PFM
lang: en
text: craniosynostosis, type 2
GeneType: Name: gene with protein product
Rare disease: Hardikar syndrome (Orphanet code 1415)
Associated genes:
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Rare disease: Hirschsprung disease-ganglioneuroblastoma syndrome (Orphanet code 2151)
Associated genes:
Name: paired like homeobox 2B
Symbol: PHOX2B
Synonyms: lang: en
text: NBPhox
lang: en
text: Phox2b
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant adult-onset proximal spinal muscular atrophy (Orphanet code 209335)
Associated genes:
Name: VAMP associated protein B and C
Symbol: VAPB
Synonyms: lang: en
text: ALS8
lang: en
text: VAP-B
lang: en
text: VAP-C
GeneType: Name: gene with protein product
Rare disease: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy (Orphanet code 209341)
Associated genes:
Name: dynein cytoplasmic 1 heavy chain 1
Symbol: DYNC1H1
Synonyms: lang: en
text: CMT2O
lang: en
text: DHC1
lang: en
text: Dnchc1
lang: en
text: HL-3
lang: en
text: p22
GeneType: Name: gene with protein product
Rare disease: Intermediate osteopetrosis (Orphanet code 210110)
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: chloride voltage-gated channel 7
Symbol: CLCN7
Synonyms: lang: en
text: CLC-7
lang: en
text: CLC7
lang: en
text: ClC-7
lang: en
text: OPTA2
lang: en
text: PPP1R63
lang: en
text: protein phosphatase 1, regulatory subunit 63
GeneType: Name: gene with protein product
Name: pleckstrin homology and RUN domain containing M1
Symbol: PLEKHM1
Synonyms: lang: en
text: KIAA0356
GeneType: Name: gene with protein product
Rare disease: Sterile multifocal osteomyelitis with periostitis and pustulosis (Orphanet code 210115)
Associated genes:
Name: interleukin 1 receptor antagonist
Symbol: IL1RN
Synonyms: lang: en
text: ICIL-1RA
lang: en
text: IL-1RN
lang: en
text: IL1F3
lang: en
text: IL1RA
lang: en
text: IRAP
lang: en
text: MGC10430
lang: en
text: interleukin-1 receptor antagonist protein
lang: en
text: intracellular interleukin-1 receptor antagonist
GeneType: Name: gene with protein product
Rare disease: IRIDA syndrome (Orphanet code 209981)
Associated genes:
Name: transmembrane serine protease 6
Symbol: TMPRSS6
Synonyms: lang: en
text: FLJ30744
lang: en
text: MT2
lang: en
text: matriptase-2
GeneType: Name: gene with protein product
Rare disease: Congenital alveolar capillary dysplasia (Orphanet code 210122)
Associated genes:
Name: forkhead box F1
Symbol: FOXF1
Synonyms: lang: en
text: FREAC1
GeneType: Name: gene with protein product
Rare disease: Urocanic aciduria (Orphanet code 210128)
Associated genes:
Name: urocanate hydratase 1
Symbol: UROC1
Synonyms: lang: en
text: FLJ31300
lang: en
text: HMFN0320
lang: en
text: urocanase 1
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 1 (Orphanet code 2254)
Associated genes:
Name: ATP/GTP binding carboxypeptidase 1
Symbol: AGTPBP1
Synonyms: lang: en
text: CCP1
lang: en
text: KIAA1035
lang: en
text: Nna1
lang: en
text: carboxypeptidase-tubulin
lang: en
text: cytosolic carboxypeptidase 1
lang: en
text: soluble carboxypeptidase
lang: en
text: tubulinyl-Tyr carboxypeptidase
lang: en
text: tyrosine carboxypeptidase
GeneType: Name: gene with protein product
Name: VRK serine/threonine kinase 1
Symbol: VRK1
GeneType: Name: gene with protein product
Name: exosome component 3
Symbol: EXOSC3
Synonyms: lang: en
text: CGI-102
lang: en
text: CGI-102 protein
lang: en
text: Exosome component Rrp40
lang: en
text: RRP40
lang: en
text: Rrp40p
lang: en
text: exosome component Rrp40
lang: en
text: hRrp-40
lang: en
text: hRrp40p
lang: en
text: p10
GeneType: Name: gene with protein product
Name: exosome component 8
Symbol: EXOSC8
Synonyms: lang: en
text: CBP-interacting protein 3
lang: en
text: CIP3
lang: en
text: EAP2
lang: en
text: OIP2
lang: en
text: Opa interacting protein 2
lang: en
text: RRP43
lang: en
text: Rrp43p
lang: en
text: bA421P11.3
lang: en
text: p9
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 46
Symbol: SLC25A46
Synonyms: lang: en
text: Mitochondrial outer membrane protein
GeneType: Name: gene with protein product
Name: exosome component 9
Symbol: EXOSC9
Synonyms: lang: en
text: PM/Scl-75
lang: en
text: RRP45
lang: en
text: Rrp45p
lang: en
text: p5
lang: en
text: p6
lang: en
text: polymyositis/scleroderma autoantigen 1 (75kD)
GeneType: Name: gene with protein product
Rare disease: Autosomal spastic paraplegia type 18 (Orphanet code 209951)
Associated genes:
Name: ER lipid raft associated 2
Symbol: ERLIN2
Synonyms: lang: en
text: Erlin-2
lang: en
text: NET32
GeneType: Name: gene with protein product
Rare disease: Episodic ataxia type 6 (Orphanet code 209967)
Associated genes:
Name: solute carrier family 1 member 3
Symbol: SLC1A3
Synonyms: lang: en
text: EA6
lang: en
text: EAAT1
lang: en
text: GLAST
lang: en
text: GLAST-1
lang: en
text: GLAST1
lang: en
text: excitatory amino acid transporter 1
lang: en
text: glutamate/aspartate transporter 1
GeneType: Name: gene with protein product
Rare disease: Isolated childhood apraxia of speech (Orphanet code 209908)
Associated genes:
Name: forkhead box P2
Symbol: FOXP2
Synonyms: lang: en
text: CAG repeat protein 44
lang: en
text: CAGH44
lang: en
text: forkhead/winged-helix transcription factor
lang: en
text: speech and language disorder 1
lang: en
text: trinucleotide repeat containing 10
GeneType: Name: gene with protein product
Rare disease: Brain-lung-thyroid syndrome (Orphanet code 209905)
Associated genes:
Name: NK2 homeobox 1
Symbol: NKX2-1
Synonyms: lang: en
text: TTF-1
lang: en
text: TTF1
GeneType: Name: gene with protein product
Rare disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (Orphanet code 209902)
Associated genes:
Name: cytochrome P450 family 7 subfamily A member 1
Symbol: CYP7A1
Synonyms: lang: en
text: cholesterol 7 alpha-monooxygenase
lang: en
text: cholesterol 7a-hydroxylase
GeneType: Name: gene with protein product
Rare disease: Cone dystrophy with supernormal rod response (Orphanet code 209932)
Associated genes:
Name: potassium voltage-gated channel modifier subfamily V member 2
Symbol: KCNV2
Synonyms: lang: en
text: Kv8.2
GeneType: Name: gene with protein product
Rare disease: Extraskeletal myxoid chondrosarcoma (Orphanet code 209916)
Associated genes:
Name: trafficking from ER to golgi regulator
Symbol: TFG
Synonyms: lang: en
text: FLJ36137
lang: en
text: SPG57
lang: en
text: TF6
GeneType: Name: gene with protein product
Name: EWS RNA binding protein 1
Symbol: EWSR1
Synonyms: lang: en
text: EWS
GeneType: Name: gene with protein product
Name: transcription factor 12
Symbol: TCF12
Synonyms: lang: en
text: HEB
lang: en
text: HTF4
lang: en
text: Helix-loop-helix transcription factor 4
lang: en
text: HsT17266
lang: en
text: bHLHb20
lang: en
text: helix-loop-helix transcription factor 4
lang: en
text: p64
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 4 group A member 3
Symbol: NR4A3
Synonyms: lang: en
text: CHN
lang: en
text: CSMF
lang: en
text: MINOR
lang: en
text: NOR1
GeneType: Name: gene with protein product
Name: TATA-box binding protein associated factor 15
Symbol: TAF15
Synonyms: lang: en
text: Npl3
lang: en
text: RBP56
lang: en
text: hTAFII68
GeneType: Name: gene with protein product
Rare disease: Severe neonatal-onset encephalopathy with microcephaly (Orphanet code 209370)
Associated genes:
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant rhegmatogenous retinal detachment (Orphanet code 209867)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Dystonia 16 (Orphanet code 210571)
Associated genes:
Name: protein activator of interferon induced protein kinase EIF2AK2
Symbol: PRKRA
Synonyms: lang: en
text: DYT16
lang: en
text: HSD14
lang: en
text: PACT
lang: en
text: PKR-associated protein X
lang: en
text: RAX
lang: en
text: protein activator of the interferon-induced protein kinase
GeneType: Name: gene with protein product
Rare disease: Catecholaminergic polymorphic ventricular tachycardia (Orphanet code 3286)
Associated genes:
Name: calsequestrin 2
Symbol: CASQ2
Synonyms: lang: en
text: PDIB2
GeneType: Name: gene with protein product
Name: triadin
Symbol: TRDN
Synonyms: lang: en
text: TRISK
lang: en
text: triadin in skeletal muscle
GeneType: Name: gene with protein product
Name: ryanodine receptor 2
Symbol: RYR2
Synonyms: lang: en
text: ARVC2
lang: en
text: VTSIP
GeneType: Name: gene with protein product
Name: calmodulin 1
Symbol: CALM1
Synonyms: lang: en
text: CAMI
lang: en
text: DD132
lang: en
text: PHKD
lang: en
text: PHKD1
lang: en
text: phosphorylase kinase subunit delta
lang: en
text: phosphorylase kinase subunit delta 1
lang: en
text: prepro-calmodulin 1
GeneType: Name: gene with protein product
Name: calmodulin 2
Symbol: CALM2
Synonyms: lang: en
text: CAMII
lang: en
text: PHKD
lang: en
text: PHKD2
lang: en
text: phosphorylase kinase subunit delta
lang: en
text: phosphorylase kinase subunit delta 2
lang: en
text: prepro-calmodulin 2
GeneType: Name: gene with protein product
Name: calmodulin 3
Symbol: CALM3
Synonyms: lang: en
text: PHKD
lang: en
text: PHKD3
lang: en
text: phosphorylase kinase subunit delta
lang: en
text: phosphorylase kinase subunit delta 3
lang: en
text: prepro-calmodulin 3
GeneType: Name: gene with protein product
Name: trans-2,3-enoyl-CoA reductase like
Symbol: TECRL
Synonyms: lang: en
text: DKFZp313B2333
lang: en
text: DKFZp313D0829
lang: en
text: GPSN2L
lang: en
text: SRD5A2L2
lang: en
text: TERL
lang: en
text: glycoprotein, synaptic 2-like
GeneType: Name: gene with protein product
Rare disease: Macrocephaly-intellectual disability-autism syndrome (Orphanet code 210548)
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: hepatic and glial cell adhesion molecule
Symbol: HEPACAM
Synonyms: lang: en
text: FLJ25530
lang: en
text: GLIALCAM
lang: en
text: glial cell adhesion molecule
lang: en
text: hepaCAM
GeneType: Name: gene with protein product
Rare disease: Adult hepatocellular carcinoma (Orphanet code 210159)
Associated genes:
Name: axin 1
Symbol: AXIN1
Synonyms: lang: en
text: PPP1R49
lang: en
text: protein phosphatase 1, regulatory subunit 49
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Name: caspase 8
Symbol: CASP8
Synonyms: lang: en
text: Casp-8
lang: en
text: FLICE
lang: en
text: MACH
lang: en
text: MCH5
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor like
Symbol: PDGFRL
Synonyms: lang: en
text: PRLTS
GeneType: Name: gene with protein product
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Name: TSC complex subunit 2
Symbol: TSC2
Synonyms: lang: en
text: LAM
lang: en
text: PPP1R160
lang: en
text: protein phosphatase 1, regulatory subunit 160
lang: en
text: tuberin
GeneType: Name: gene with protein product
Name: TSC complex subunit 1
Symbol: TSC1
Synonyms: lang: en
text: KIAA0243
lang: en
text: LAM
lang: en
text: hamartin
GeneType: Name: gene with protein product
Name: epidermal growth factor
Symbol: EGF
Synonyms: lang: en
text: Pro-epidermal growth factor
GeneType: Name: gene with protein product
Rare disease: Congenital lethal myopathy, Compton-North type (Orphanet code 210163)
Associated genes:
Name: contactin 1
Symbol: CNTN1
Synonyms: lang: en
text: F3
lang: en
text: GP135
lang: en
text: glycoprotein gP135
GeneType: Name: gene with protein product
Rare disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome (Orphanet code 3240)
Associated genes:
Name: lysyl-tRNA synthetase 1
Symbol: KARS1
Synonyms: lang: en
text: KARS1
lang: en
text: KARS2
lang: en
text: lysine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: Inherited congenital spastic tetraplegia (Orphanet code 210141)
Associated genes:
Name: KN motif and ankyrin repeat domains 1
Symbol: KANK1
Synonyms: lang: en
text: KANK
lang: en
text: KIAA0172
lang: en
text: Kidney ankyrin repeat-containing protein
GeneType: Name: gene with protein product
Name: glutamate decarboxylase 1
Symbol: GAD1
GeneType: Name: gene with protein product
Name: adducin 3
Symbol: ADD3
Synonyms: lang: en
text: gamma-adducin
GeneType: Name: gene with protein product
Rare disease: Lethal polymalformative syndrome, Boissel type (Orphanet code 210144)
Associated genes:
Name: FTO alpha-ketoglutarate dependent dioxygenase
Symbol: FTO
Synonyms: lang: en
text: ALKBH9
lang: en
text: AlkB homolog 9
lang: en
text: IFEX9
lang: en
text: KIAA1752
lang: en
text: MGC5149
lang: en
text: alkB homolog 9
lang: en
text: alpha-ketoglutarate-dependent dioxygenase
lang: en
text: intragenic FTO exon 9 containing transcript
GeneType: Name: gene with protein product
Rare disease: Tufted angioma (Orphanet code 1063)
Associated genes:
Name: G protein subunit alpha 14
Symbol: GNA14
GeneType: Name: gene with protein product
Rare disease: Episodic ataxia type 5 (Orphanet code 211067)
Associated genes:
Name: calcium voltage-gated channel auxiliary subunit beta 4
Symbol: CACNB4
Synonyms: lang: en
text: EJM4
GeneType: Name: gene with protein product