TaoMedAI/RareMedData huggingface dataset:
Rare disease: Familial multiple meningioma (Orphanet code 263662)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Symbol: SMARCB1
Synonyms: lang: en
text: BAF47
lang: en
text: INI-1
lang: en
text: Ini1
lang: en
text: PPP1R144
lang: en
text: RDT
lang: en
text: SNF5
lang: en
text: Sfh1p
lang: en
text: Snr1
lang: en
text: hSNFS
lang: en
text: integrase interactor 1
lang: en
text: malignant rhabdoid tumor suppressor
lang: en
text: protein phosphatase 1, regulatory subunit 144
lang: en
text: sucrose nonfermenting, yeast, homolog-like 1
GeneType: Name: gene with protein product
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Symbol: SMARCE1
Synonyms: lang: en
text: BAF57
GeneType: Name: gene with protein product
Name: MN1 proto-oncogene, transcriptional regulator
Symbol: MN1
Synonyms: lang: en
text: MGCR1
lang: en
text: MGCR1-PEN
lang: en
text: probable tumor suppressor protein MN1
GeneType: Name: gene with protein product
Name: platelet derived growth factor subunit B
Symbol: PDGFB
Synonyms: lang: en
text: SSV
lang: en
text: becaplermin
lang: en
text: oncogene SIS
GeneType: Name: gene with protein product
Rare disease: Peeling skin syndrome type A (Orphanet code 263548)
Associated genes:
Name: filaggrin 2
Symbol: FLG2
Synonyms: lang: en
text: IFPS
lang: en
text: ifapsoriasin
GeneType: Name: gene with protein product
Name: carbohydrate sulfotransferase 8
Symbol: CHST8
Synonyms: lang: en
text: GALNAC-4-ST1
lang: en
text: GALNAC4ST-1
GeneType: Name: gene with protein product
Name: serpin family B member 8
Symbol: SERPINB8
Synonyms: lang: en
text: CAP2
lang: en
text: cytoplasmic antiproteinase 2
GeneType: Name: gene with protein product
Rare disease: Peeling skin syndrome type B (Orphanet code 263553)
Associated genes:
Name: corneodesmosin
Symbol: CDSN
Synonyms: lang: en
text: D6S586E
GeneType: Name: gene with protein product
Rare disease: NPHP3-related Meckel-like syndrome (Orphanet code 3032)
Associated genes:
Name: nephrocystin 3
Symbol: NPHP3
Synonyms: lang: en
text: CFAP31
lang: en
text: FLJ30691
lang: en
text: FLJ36696
lang: en
text: KIAA2000
lang: en
text: MKS7
lang: en
text: Meckel syndrome, type 7
lang: en
text: NPH3
lang: en
text: SLSN3
lang: en
text: cilia and flagella associated protein 31
GeneType: Name: gene with protein product
Rare disease: Acral peeling skin syndrome (Orphanet code 263534)
Associated genes:
Name: cystatin A
Symbol: CSTA
Synonyms: lang: en
text: stefin A
GeneType: Name: gene with protein product
Name: transglutaminase 5
Symbol: TGM5
Synonyms: lang: en
text: TGMX
lang: en
text: TGX
lang: en
text: protein-glutamine gamma-glutamyltransferase 5
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 3 (Orphanet code 263516)
Associated genes:
Name: potassium channel tetramerization domain containing 7
Symbol: KCTD7
Synonyms: lang: en
text: CLN14
lang: en
text: EPM3
lang: en
text: FLJ32069
GeneType: Name: gene with protein product
Rare disease: Acute necrotizing encephalopathy of childhood (Orphanet code 263524)
Associated genes:
Name: carnitine palmitoyltransferase 2
Symbol: CPT2
Synonyms: lang: en
text: CPTASE
GeneType: Name: gene with protein product
Name: RAN binding protein 2
Symbol: RANBP2
Synonyms: lang: en
text: ADANE
lang: en
text: NUP358
lang: en
text: nucleoporin 358
GeneType: Name: gene with protein product
Rare disease: COG4-CDG (Orphanet code 263501)
Associated genes:
Name: component of oligomeric golgi complex 4
Symbol: COG4
Synonyms: lang: en
text: COD1
lang: en
text: DKFZP586E1519
GeneType: Name: gene with protein product
Rare disease: COG1-CDG (Orphanet code 263508)
Associated genes:
Name: component of oligomeric golgi complex 1
Symbol: COG1
Synonyms: lang: en
text: KIAA1381
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, Maroteaux type (Orphanet code 263482)
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: RAPADILINO syndrome (Orphanet code 3021)
Associated genes:
Name: RecQ like helicase 4
Symbol: RECQL4
Synonyms: lang: en
text: RecQ4
GeneType: Name: gene with protein product
Rare disease: DPM3-CDG (Orphanet code 263494)
Associated genes:
Name: dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Symbol: DPM3
Synonyms: lang: en
text: DPM synthase complex subunit
lang: en
text: MGC125904
lang: en
text: MGC125905
lang: en
text: MGC34275
GeneType: Name: gene with protein product
Rare disease: COG5-CDG (Orphanet code 263487)
Associated genes:
Name: component of oligomeric golgi complex 5
Symbol: COG5
Synonyms: lang: en
text: GTC90
GeneType: Name: gene with protein product
Rare disease: Hyperinsulinism due to INSR deficiency (Orphanet code 263458)
Associated genes:
Name: insulin receptor
Symbol: INSR
Synonyms: lang: en
text: CD220
GeneType: Name: gene with protein product
Rare disease: Congenital hyperinsulinism due to HNF4A deficiency (Orphanet code 263455)
Associated genes:
Name: hepatocyte nuclear factor 4 alpha
Symbol: HNF4A
Synonyms: lang: en
text: HNF4
lang: en
text: NR2A1
GeneType: Name: gene with protein product
Rare disease: Osteosclerotic bone dysplasia (Orphanet code 1832)
Associated genes:
Name: FAM20C golgi associated secretory pathway kinase
Symbol: FAM20C
Synonyms: lang: en
text: DKFZp547D065
lang: en
text: DMP4
lang: en
text: G-CK
lang: en
text: IMAGE:4942737
lang: en
text: dentin matrix protein 4
lang: en
text: golgi casein kinase
GeneType: Name: gene with protein product
Rare disease: Ramon syndrome (Orphanet code 3019)
Associated genes:
Name: engulfment and cell motility 2
Symbol: ELMO2
Synonyms: lang: en
text: CED-12
lang: en
text: CED12
lang: en
text: ELMO-2
lang: en
text: FLJ11656
lang: en
text: KIAA1834
GeneType: Name: gene with protein product
Rare disease: CHST3-related skeletal dysplasia (Orphanet code 263463)
Associated genes:
Name: carbohydrate sulfotransferase 3
Symbol: CHST3
Synonyms: lang: en
text: C6ST
lang: en
text: C6ST1
lang: en
text: chondroitin 6 sulfotransferase 1
GeneType: Name: gene with protein product
Rare disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (Orphanet code 263410)
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: Rabson-Mendenhall syndrome (Orphanet code 769)
Associated genes:
Name: insulin receptor
Symbol: INSR
Synonyms: lang: en
text: CD220
GeneType: Name: gene with protein product
Rare disease: Pyle disease (Orphanet code 3005)
Associated genes:
Name: secreted frizzled related protein 4
Symbol: SFRP4
Synonyms: lang: en
text: FRP-4
lang: en
text: FRPHE
lang: en
text: FRZB-2
lang: en
text: frpHE
GeneType: Name: gene with protein product
Rare disease: MRCS syndrome (Orphanet code 263347)
Associated genes:
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive multiple pterygium syndrome (Orphanet code 2990)
Associated genes:
Name: cholinergic receptor nicotinic gamma subunit
Symbol: CHRNG
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, gamma (muscle)
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: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (Orphanet code 263297)
Associated genes:
Name: glycogenin 1
Symbol: GYG1
Synonyms: lang: en
text: glycogenin glucosyltransferase
GeneType: Name: gene with protein product
Rare disease: Ulnar-mammary syndrome (Orphanet code 3138)
Associated genes:
Name: T-box transcription factor 3
Symbol: TBX3
Synonyms: lang: en
text: TBX3-ISO
lang: en
text: XHL
GeneType: Name: gene with protein product
Rare disease: Schneckenbecken dysplasia (Orphanet code 3144)
Associated genes:
Name: solute carrier family 35 member D1
Symbol: SLC35D1
Synonyms: lang: en
text: KIAA0260
lang: en
text: UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
lang: en
text: UGTREL7
GeneType: Name: gene with protein product
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: Schinzel-Giedion syndrome (Orphanet code 798)
Associated genes:
Name: SET binding protein 1
Symbol: SETBP1
Synonyms: lang: en
text: KIAA0437
lang: en
text: SEB
GeneType: Name: gene with protein product
Rare disease: Roussy-Lévy syndrome (Orphanet code 3115)
Associated genes:
Name: peripheral myelin protein 22
Symbol: PMP22
Synonyms: lang: en
text: GAS3
lang: en
text: HMSNIA
lang: en
text: HNPP
lang: en
text: Sp110
GeneType: Name: gene with protein product
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Richieri Costa-Pereira syndrome (Orphanet code 3102)
Associated genes:
Name: eukaryotic translation initiation factor 4A3
Symbol: EIF4A3
Synonyms: lang: en
text: EIF4AIII
lang: en
text: Fal1
lang: en
text: KIAA0111
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Robinow syndrome (Orphanet code 3107)
Associated genes:
Name: dishevelled segment polarity protein 3
Symbol: DVL3
Synonyms: lang: en
text: KIAA0208
GeneType: Name: gene with protein product
Name: Wnt family member 5A
Symbol: WNT5A
Synonyms: lang: en
text: WNT-5A protein
lang: en
text: hWNT5A
GeneType: Name: gene with protein product
Name: dishevelled segment polarity protein 1
Symbol: DVL1
GeneType: Name: gene with protein product
Name: frizzled class receptor 2
Symbol: FZD2
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant vitreoretinochoroidopathy (Orphanet code 3086)
Associated genes:
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Rare disease: Revesz syndrome (Orphanet code 3088)
Associated genes:
Name: TERF1 interacting nuclear factor 2
Symbol: TINF2
Synonyms: lang: en
text: TIN2
GeneType: Name: gene with protein product
Rare disease: Meacham syndrome (Orphanet code 3097)
Associated genes:
Name: WT1 transcription factor
Symbol: WT1
Synonyms: lang: en
text: AWT1
lang: en
text: NPHS4
lang: en
text: WAGR
lang: en
text: WIT-2
lang: en
text: WT-1
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-psychosis-macroorchidism syndrome (Orphanet code 3077)
Associated genes:
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Snyder type (Orphanet code 3063)
Associated genes:
Name: spermine synthase
Symbol: SMS
Synonyms: lang: en
text: MRSR
lang: en
text: SPMSY
lang: en
text: SpS
GeneType: Name: gene with protein product
Rare disease: TARP syndrome (Orphanet code 2886)
Associated genes:
Name: RNA binding motif protein 10
Symbol: RBM10
Synonyms: lang: en
text: DXS8237E
lang: en
text: G-patch domain containing 9
lang: en
text: GPATC9
lang: en
text: GPATCH9
lang: en
text: KIAA0122
lang: en
text: S1-1
lang: en
text: ZRANB5
lang: en
text: zinc finger RANBP2-type containing 5
GeneType: Name: gene with protein product
Rare disease: Piebaldism (Orphanet code 2884)
Associated genes:
Name: snail family transcriptional repressor 2
Symbol: SNAI2
Synonyms: lang: en
text: SLUGH
lang: en
text: SLUGH1
lang: en
text: SNAIL2
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Phocomelia, Schinzel type (Orphanet code 2879)
Associated genes:
Name: Wnt family member 7A
Symbol: WNT7A
Synonyms: lang: en
text: Wnt-7a
lang: en
text: proto-oncogene Wnt7a protein
GeneType: Name: gene with protein product
Rare disease: Isolated megalencephaly (Orphanet code 268920)
Associated genes:
Name: TBC1 domain family member 7
Symbol: TBC1D7
Synonyms: lang: en
text: FLJ32666
lang: en
text: TBC domain family 7
lang: en
text: TBC7
lang: en
text: TS complex subunit 3
lang: en
text: Tre2-Bub2-Cdc16 Domain Family Member 7
lang: en
text: dJ257A7.3
GeneType: Name: gene with protein product
Rare disease: Arnold-Chiari malformation type I (Orphanet code 268882)
Associated genes:
Name: dickkopf WNT signaling pathway inhibitor 1
Symbol: DKK1
Synonyms: lang: en
text: DKK-1
lang: en
text: SK
GeneType: Name: gene with protein product
Rare disease: Occipital encephalocele (Orphanet code 268823)
Associated genes:
Name: dishevelled binding antagonist of beta catenin 1
Symbol: DACT1
Synonyms: lang: en
text: DAPPER
lang: en
text: DAPPER1
lang: en
text: FRODO
lang: en
text: HDPR1
lang: en
text: THYEX3
GeneType: Name: gene with protein product
Rare disease: Phakomatosis pigmentokeratotica (Orphanet code 2874)
Associated genes:
Name: HRas proto-oncogene, GTPase
Symbol: HRAS
GeneType: Name: gene with protein product
Rare disease: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (Orphanet code 2848)
Associated genes:
Name: proteoglycan 4
Symbol: PRG4
Synonyms: lang: en
text: FLJ32635
lang: en
text: HAPO
lang: en
text: JCAP
lang: en
text: Jacobs camptodactyly-arthropathy-pericarditis syndrome
lang: en
text: MSF
lang: en
text: SZP
lang: en
text: articular superficial zone protein
lang: en
text: bG174L6.2
lang: en
text: bG174L6.2 (MSF: megakaryocyte stimulating factor )
lang: en
text: camptodactyly, arthropathy, coxa vara, pericarditis syndrome
lang: en
text: lubricin
lang: en
text: megakaryocyte stimulating factor
GeneType: Name: gene with protein product
Rare disease: Fuhrmann syndrome (Orphanet code 2854)
Associated genes:
Name: Wnt family member 7A
Symbol: WNT7A
Synonyms: lang: en
text: Wnt-7a
lang: en
text: proto-oncogene Wnt7a protein
GeneType: Name: gene with protein product
Rare disease: Peters anomaly (Orphanet code 708)
Associated genes:
Name: forkhead box C1
Symbol: FOXC1
Synonyms: lang: en
text: ARA
lang: en
text: FREAC3
lang: en
text: IGDA
lang: en
text: IHG1
GeneType: Name: gene with protein product
Name: cytochrome P450 family 1 subfamily B member 1
Symbol: CYP1B1
Synonyms: lang: en
text: CP1B
GeneType: Name: gene with protein product
Name: paired like homeodomain 2
Symbol: PITX2
Synonyms: lang: en
text: ARP1
lang: en
text: Brx1
lang: en
text: IGDS
lang: en
text: Otlx2
lang: en
text: RS
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
Name: forkhead box E3
Symbol: FOXE3
Synonyms: lang: en
text: FREAC8
GeneType: Name: gene with protein product
Rare disease: Alopecia-intellectual disability syndrome (Orphanet code 2850)
Associated genes:
Name: integrin subunit beta 6
Symbol: ITGB6
GeneType: Name: gene with protein product
Name: lanosterol synthase
Symbol: LSS
Synonyms: lang: en
text: OSC
lang: en
text: Oxidosqualene-lanosterol cyclase
GeneType: Name: gene with protein product
Name: alpha 2-HS glycoprotein
Symbol: AHSG
Synonyms: lang: en
text: A2HS
lang: en
text: FETUA
lang: en
text: HSGA
lang: en
text: fetuin A
GeneType: Name: gene with protein product
Rare disease: RAS-associated autoimmune leukoproliferative disease (Orphanet code 268114)
Associated genes:
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: Spheroid body myopathy (Orphanet code 268129)
Associated genes:
Name: myotilin
Symbol: MYOT
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 11 (Orphanet code 2822)
Associated genes:
Name: SPG11 vesicle trafficking associated, spatacsin
Symbol: SPG11
Synonyms: lang: en
text: FLJ21439
lang: en
text: spatacsin
GeneType: Name: gene with protein product
Rare disease: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (Orphanet code 268261)
Associated genes:
Name: dual specificity tyrosine phosphorylation regulated kinase 1A
Symbol: DYRK1A
GeneType: Name: gene with protein product
Rare disease: PEHO syndrome (Orphanet code 2836)
Associated genes:
Name: zinc finger HIT-type containing 3
Symbol: ZNHIT3
Synonyms: lang: en
text: Hit1
GeneType: Name: gene with protein product
Rare disease: Intermediate maple syrup urine disease (Orphanet code 268162)
Associated genes:
Name: branched chain keto acid dehydrogenase E1 subunit alpha
Symbol: BCKDHA
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
lang: en
text: MSU
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: branched chain keto acid dehydrogenase E1 subunit beta
Symbol: BCKDHB
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
lang: en
text: OVD1B
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: dihydrolipoamide branched chain transacylase E2
Symbol: DBT
Synonyms: lang: en
text: BCKAD-E2
lang: en
text: BCKDH-E2
lang: en
text: BCOADC-E2
lang: en
text: branched chain 2-oxo-acid dehydrogenase complex component E2
lang: en
text: dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lang: en
text: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
GeneType: Name: gene with protein product
Name: protein phosphatase, Mg2+/Mn2+ dependent 1K
Symbol: PPM1K
Synonyms: lang: en
text: BDP
lang: en
text: DKFZp761G058
lang: en
text: PP2C-type mitochondrial phosphoprotein phosphatase
lang: en
text: PP2Ckappa
lang: en
text: PP2Cm
lang: en
text: branched-chain alpha-ketoacid dehydrogenase phosphatase
lang: en
text: hPTMP
lang: en
text: protein phosphatase 2C kappa
GeneType: Name: gene with protein product
Rare disease: Classic maple syrup urine disease (Orphanet code 268145)
Associated genes:
Name: branched chain keto acid dehydrogenase E1 subunit alpha
Symbol: BCKDHA
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
lang: en
text: MSU
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: branched chain keto acid dehydrogenase E1 subunit beta
Symbol: BCKDHB
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
lang: en
text: OVD1B
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: dihydrolipoamide branched chain transacylase E2
Symbol: DBT
Synonyms: lang: en
text: BCKAD-E2
lang: en
text: BCKDH-E2
lang: en
text: BCOADC-E2
lang: en
text: branched chain 2-oxo-acid dehydrogenase complex component E2
lang: en
text: dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lang: en
text: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Thiamine-responsive maple syrup urine disease (Orphanet code 268184)
Associated genes:
Name: branched chain keto acid dehydrogenase E1 subunit alpha
Symbol: BCKDHA
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
lang: en
text: MSU
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: branched chain keto acid dehydrogenase E1 subunit beta
Symbol: BCKDHB
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
lang: en
text: OVD1B
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: dihydrolipoamide branched chain transacylase E2
Symbol: DBT
Synonyms: lang: en
text: BCKAD-E2
lang: en
text: BCKDH-E2
lang: en
text: BCOADC-E2
lang: en
text: branched chain 2-oxo-acid dehydrogenase complex component E2
lang: en
text: dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lang: en
text: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Stiff skin syndrome (Orphanet code 2833)
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
Rare disease: Wrinkly skin syndrome (Orphanet code 2834)
Associated genes:
Name: ATPase H+ transporting V0 subunit a2
Symbol: ATP6V0A2
Synonyms: lang: en
text: ATP6N1D
lang: en
text: ATP6a2
lang: en
text: J6B7
lang: en
text: RTF
lang: en
text: Stv1
lang: en
text: TJ6
lang: en
text: TJ6M
lang: en
text: TJ6s
lang: en
text: V-ATPase subunit a2
lang: en
text: V-type proton ATPase 116 kDa subunit a2
lang: en
text: Vph1
lang: en
text: a2
lang: en
text: a2V
lang: en
text: regeneration and tolerance factor
GeneType: Name: gene with protein product
Rare disease: Intermittent maple syrup urine disease (Orphanet code 268173)
Associated genes:
Name: branched chain keto acid dehydrogenase E1 subunit alpha
Symbol: BCKDHA
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
lang: en
text: MSU
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: branched chain keto acid dehydrogenase E1 subunit beta
Symbol: BCKDHB
Synonyms: lang: en
text: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
lang: en
text: OVD1B
lang: en
text: maple syrup urine disease
GeneType: Name: gene with protein product
Name: dihydrolipoamide branched chain transacylase E2
Symbol: DBT
Synonyms: lang: en
text: BCKAD-E2
lang: en
text: BCKDH-E2
lang: en
text: BCOADC-E2
lang: en
text: branched chain 2-oxo-acid dehydrogenase complex component E2
lang: en
text: dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lang: en
text: lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Proteus-like syndrome (Orphanet code 2969)
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
Rare disease: Pseudoachondroplasia (Orphanet code 750)
Associated genes:
Name: cartilage oligomeric matrix protein
Symbol: COMP
Synonyms: lang: en
text: MED
lang: en
text: THBS5
lang: en
text: TSP-5
lang: en
text: TSP5
lang: en
text: multiple epiphyseal dysplasia
lang: en
text: thrombospondin-5
GeneType: Name: gene with protein product