TaoMedAI/RareMedData huggingface dataset:
Rare disease: Joubert syndrome with hepatic defect (Orphanet code 1454)
Associated genes:
Name: transmembrane protein 67
Symbol: TMEM67
Synonyms: lang: en
text: JBTS6
lang: en
text: MGC26979
lang: en
text: Meckelin
lang: en
text: NPHP11
GeneType: Name: gene with protein product
Name: RPGRIP1 like
Symbol: RPGRIP1L
Synonyms: lang: en
text: CORS3
lang: en
text: FTM
lang: en
text: JBTS7
lang: en
text: KIAA1005
lang: en
text: MKS5
lang: en
text: Meckel syndrome, type 5
lang: en
text: NPHP8
lang: en
text: PPP1R134
lang: en
text: fantom homolog
lang: en
text: protein phosphatase 1, regulatory subunit 134
GeneType: Name: gene with protein product
Name: coiled-coil and C2 domain containing 2A
Symbol: CC2D2A
Synonyms: lang: en
text: JBTS9
lang: en
text: KIAA1345
lang: en
text: MKS6
lang: en
text: Meckel syndrome, type 6
GeneType: Name: gene with protein product
Name: inositol polyphosphate-5-phosphatase E
Symbol: INPP5E
Synonyms: lang: en
text: CORS1
lang: en
text: PPI5PIV
lang: en
text: Phosphatidylinositol polyphosphate 5-phosphatase type IV
lang: en
text: pharbin
GeneType: Name: gene with protein product
Rare disease: Coats disease (Orphanet code 190)
Associated genes:
Name: norrin cystine knot growth factor NDP
Symbol: NDP
Synonyms: lang: en
text: norrin
GeneType: Name: gene with protein product
Rare disease: Benign hereditary chorea (Orphanet code 1429)
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
Name: adenylate cyclase 5
Symbol: ADCY5
Synonyms: lang: en
text: AC5
GeneType: Name: gene with protein product
Rare disease: Greenberg dysplasia (Orphanet code 1426)
Associated genes:
Name: lamin B receptor
Symbol: LBR
Synonyms: lang: en
text: DHCR14B
lang: en
text: TDRD18
lang: en
text: tudor domain containing 18
GeneType: Name: gene with protein product
Rare disease: Otospondylomegaepiphyseal dysplasia (Orphanet code 1427)
Associated genes:
Name: collagen type XI alpha 2 chain
Symbol: COL11A2
Synonyms: lang: en
text: HKE5
GeneType: Name: gene with protein product
Rare disease: Xq21 microdeletion syndrome (Orphanet code 1435)
Associated genes:
Name: POU class 3 homeobox 4
Symbol: POU3F4
Synonyms: lang: en
text: BRN4
lang: en
text: DFNX2
lang: en
text: OTF9
lang: en
text: Octamer-binding transcription factor 9
lang: en
text: brain-4
GeneType: Name: gene with protein product
Rare disease: Submucosal cleft palate (Orphanet code 155878)
Associated genes:
Name: grainyhead like transcription factor 3
Symbol: GRHL3
Synonyms: lang: en
text: SOM
lang: en
text: sister-of-mammalian grainyhead
GeneType: Name: gene with protein product
Name: ubiquitin B
Symbol: UBB
Synonyms: lang: en
text: FLJ25987
lang: en
text: MGC8385
lang: en
text: polyubiquitin B
GeneType: Name: gene with protein product
Rare disease: Corneal dystrophy-perceptive deafness syndrome (Orphanet code 1490)
Associated genes:
Name: solute carrier family 4 member 11
Symbol: SLC4A11
Synonyms: lang: en
text: BTR1
lang: en
text: FECD4
lang: en
text: NaBC1
lang: en
text: bicarbonate transporter related protein 1
lang: en
text: dJ794I6.2
lang: en
text: sodium-coupled borate cotransporter 1
GeneType: Name: gene with protein product
Rare disease: Lethal congenital contracture syndrome type 1 (Orphanet code 1486)
Associated genes:
Name: GLE1 RNA export mediator
Symbol: GLE1
Synonyms: lang: en
text: hGLE1
GeneType: Name: gene with protein product
Rare disease: Tessier number 7 facial cleft (Orphanet code 141276)
Associated genes:
Name: patched 2
Symbol: PTCH2
GeneType: Name: gene with protein product
Name: sperm antigen with calponin homology and coiled-coil domains 1 like
Symbol: SPECC1L
Synonyms: lang: en
text: CYTSA
lang: en
text: KIAA0376
lang: en
text: cytokinesis and spindle organization A
GeneType: Name: gene with protein product
Rare disease: COFS syndrome (Orphanet code 1466)
Associated genes:
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
Name: ERCC excision repair 6, chromatin remodeling factor
Symbol: ERCC6
Synonyms: lang: en
text: ARMD5
lang: en
text: CSB
lang: en
text: Cockayne syndrome B protein
lang: en
text: RAD26
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 1, endonuclease non-catalytic subunit
Symbol: ERCC1
Synonyms: lang: en
text: RAD10
GeneType: Name: gene with protein product
Rare disease: Cleft lip and alveolus (Orphanet code 141291)
Associated genes:
Name: msh homeobox 1
Symbol: MSX1
Synonyms: lang: en
text: HYD1
lang: en
text: OFC5
GeneType: Name: gene with protein product
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Name: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Name: nectin cell adhesion molecule 1
Symbol: NECTIN1
Synonyms: lang: en
text: CD111
lang: en
text: CLPED1
lang: en
text: HIgR
lang: en
text: Nectin-1
lang: en
text: OFC7
lang: en
text: PRR
lang: en
text: PRR1
lang: en
text: PVRR1
lang: en
text: SK-12
lang: en
text: nectin
GeneType: Name: gene with protein product
Rare disease: Uncombable hair syndrome (Orphanet code 1410)
Associated genes:
Name: peptidyl arginine deiminase 3
Symbol: PADI3
Synonyms: lang: en
text: PDI3
GeneType: Name: gene with protein product
Name: transglutaminase 3
Symbol: TGM3
Synonyms: lang: en
text: E polypeptide, protein-glutamine-gamma-glutamyltransferase
lang: en
text: TGE
GeneType: Name: gene with protein product
Rare disease: Tarsal-carpal coalition syndrome (Orphanet code 1412)
Associated genes:
Name: noggin
Symbol: NOG
GeneType: Name: gene with protein product
Rare disease: Familial calcium pyrophosphate deposition (Orphanet code 1416)
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: ANKH inorganic pyrophosphate transport regulator
Symbol: ANKH
Synonyms: lang: en
text: ANK
lang: en
text: CPPDD
lang: en
text: HANK
lang: en
text: SLC62A1
GeneType: Name: gene with protein product
Rare disease: Cerebrofaciothoracic dysplasia (Orphanet code 1394)
Associated genes:
Name: transmembrane and coiled-coil domains 1
Symbol: TMCO1
Synonyms: lang: en
text: Ca(2+) load-activated Ca(2+) channel
lang: en
text: HP10122
GeneType: Name: gene with protein product
Rare disease: CHAND syndrome (Orphanet code 1401)
Associated genes:
Name: receptor interacting serine/threonine kinase 4
Symbol: RIPK4
Synonyms: lang: en
text: ANKK2
lang: en
text: DIK
lang: en
text: PKC-delta-interacting protein kinase
lang: en
text: PKK
lang: en
text: RIP4
lang: en
text: protein kinase C-associated kinase
GeneType: Name: gene with protein product
Rare disease: External auditory canal aplasia/hypoplasia (Orphanet code 141074)
Associated genes:
Name: teashirt zinc finger homeobox 1
Symbol: TSHZ1
Synonyms: lang: en
text: NY-CO-33
lang: en
text: TSH1
GeneType: Name: gene with protein product
Rare disease: Metaphyseal chondrodysplasia, Schmid type (Orphanet code 174)
Associated genes:
Name: collagen type X alpha 1 chain
Symbol: COL10A1
Synonyms: lang: en
text: Schmid metaphyseal chondrodysplasia
GeneType: Name: gene with protein product
Rare disease: Desbuquois syndrome (Orphanet code 1425)
Associated genes:
Name: chondroitin sulfate N-acetylgalactosaminyltransferase 1
Symbol: CSGALNACT1
Synonyms: lang: en
text: CSGalNAcT-1
lang: en
text: ChGn
lang: en
text: FLJ11264
lang: en
text: chondroitin beta1,4 N-acetylgalactosaminyltransferase
lang: en
text: glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase
GeneType: Name: gene with protein product
Name: calcium activated nucleotidase 1
Symbol: CANT1
Synonyms: lang: en
text: SCAN-1
lang: en
text: SHAPY
lang: en
text: Soluble Ca-Activated Nucleotidase, isozyme 1
lang: en
text: apyrase 1 homolog (C. lectularius)
GeneType: Name: gene with protein product
Name: xylosyltransferase 1
Symbol: XYLT1
Synonyms: lang: en
text: PXYLT1
lang: en
text: XT-I
lang: en
text: protein xylosyltransferase 1
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, matrilin-3 type (Orphanet code 156728)
Associated genes:
Name: matrilin 3
Symbol: MATN3
Synonyms: lang: en
text: EDM5
lang: en
text: HOA
GeneType: Name: gene with protein product
Rare disease: Hereditary hyperferritinemia-cataract syndrome (Orphanet code 163)
Associated genes:
Name: ferritin light chain
Symbol: FTL
Synonyms: lang: en
text: FTL1
lang: en
text: L apoferritin
lang: en
text: MGC71996
lang: en
text: NBIA3
lang: en
text: ferritin L subunit
lang: en
text: ferritin L-chain
lang: en
text: ferritin light polypeptide-like 3
lang: en
text: neurodegeneration with brain iron accumulation 3
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive palmoplantar keratoderma and congenital alopecia (Orphanet code 1366)
Associated genes:
Name: lanosterol synthase
Symbol: LSS
Synonyms: lang: en
text: OSC
lang: en
text: Oxidosqualene-lanosterol cyclase
GeneType: Name: gene with protein product
Rare disease: Cerebrocostomandibular syndrome (Orphanet code 1393)
Associated genes:
Name: small nuclear ribonucleoprotein polypeptides B and B1
Symbol: SNRPB
Synonyms: lang: en
text: COD
lang: en
text: Sm-B/B'
lang: en
text: SmB/SmB'
lang: en
text: snRNP-B
GeneType: Name: gene with protein product
Rare disease: Cold-induced sweating syndrome (Orphanet code 157820)
Associated genes:
Name: kelch like family member 7
Symbol: KLHL7
Synonyms: lang: en
text: KLHL6
lang: en
text: RP42
lang: en
text: SBBI26
lang: en
text: retinitis pigmentosa 42
GeneType: Name: gene with protein product
Name: cytokine receptor like factor 1
Symbol: CRLF1
Synonyms: lang: en
text: CISS
lang: en
text: CISS1
lang: en
text: CLF
lang: en
text: CLF-1
lang: en
text: cold-induced sweating syndrome
GeneType: Name: gene with protein product
Name: cardiotrophin like cytokine factor 1
Symbol: CLCF1
Synonyms: lang: en
text: B-cell stimulating factor 3
lang: en
text: BSF-3
lang: en
text: BSF3
lang: en
text: CISS2
lang: en
text: CLC
lang: en
text: NNT-1
lang: en
text: NNT1
lang: en
text: NR6
lang: en
text: cold-induced sweating syndrome 2
lang: en
text: novel neurotrophin-1
GeneType: Name: gene with protein product
Rare disease: Serrated polyposis syndrome (Orphanet code 157798)
Associated genes:
Name: ring finger protein 43
Symbol: RNF43
Synonyms: lang: en
text: DKFZp781H0392
lang: en
text: FLJ20315
lang: en
text: RNF124
lang: en
text: URCC
GeneType: Name: gene with protein product
Rare disease: Catel-Manzke syndrome (Orphanet code 1388)
Associated genes:
Name: TDP-glucose 4,6-dehydratase
Symbol: TGDS
Synonyms: lang: en
text: SDR2E1
lang: en
text: TDPGD
lang: en
text: short chain dehydrogenase/reductase family 2E, member 1
GeneType: Name: gene with protein product
Rare disease: Mesoaxial synostotic syndactyly with phalangeal reduction (Orphanet code 157801)
Associated genes:
Name: basic helix-loop-helix family member a9
Symbol: BHLHA9
Synonyms: lang: en
text: BHLHF42
lang: en
text: Fingerin
lang: en
text: bHLHa9
GeneType: Name: gene with protein product
Rare disease: Cataract-intellectual disability-hypogonadism syndrome (Orphanet code 1387)
Associated genes:
Name: RAB3 GTPase activating protein catalytic subunit 1
Symbol: RAB3GAP1
Synonyms: lang: en
text: KIAA0066
lang: en
text: RAB3GAP
lang: en
text: RAB3GAP130
lang: en
text: WARBM1
GeneType: Name: gene with protein product
Name: RAB3 GTPase activating non-catalytic protein subunit 2
Symbol: RAB3GAP2
Synonyms: lang: en
text: DKFZP434D245
lang: en
text: KIAA0839
lang: en
text: RAB3-GAP150
lang: en
text: SPG69
GeneType: Name: gene with protein product
Rare disease: Epithelioid hemangioendothelioma (Orphanet code 157791)
Associated genes:
Name: transcription factor binding to IGHM enhancer 3
Symbol: TFE3
Synonyms: lang: en
text: TFEA
lang: en
text: bHLHe33
lang: en
text: transcription factor E family, member A
GeneType: Name: gene with protein product
Name: calmodulin binding transcription activator 1
Symbol: CAMTA1
Synonyms: lang: en
text: KIAA0833
GeneType: Name: gene with protein product
Name: Yes1 associated transcriptional regulator
Symbol: YAP1
Synonyms: lang: en
text: YAP-1
lang: en
text: YAP65
GeneType: Name: gene with protein product
Name: WW domain containing transcription regulator 1
Symbol: WWTR1
Synonyms: lang: en
text: DKFZp586I1419
lang: en
text: TAZ
lang: en
text: transcriptional coactivator with PDZ-binding motif
GeneType: Name: gene with protein product
Rare disease: Hereditary mixed polyposis syndrome (Orphanet code 157794)
Associated genes:
Name: bone morphogenetic protein receptor type 1A
Symbol: BMPR1A
Synonyms: lang: en
text: ALK3
lang: en
text: CD292
GeneType: Name: gene with protein product
Name: gremlin 1, DAN family BMP antagonist
Symbol: GREM1
Synonyms: lang: en
text: DAND2
lang: en
text: DRM
lang: en
text: HMPS
lang: en
text: down-regulated in mos-transformed cells
lang: en
text: gremlin
lang: en
text: hereditary mixed polyposis syndrome
GeneType: Name: gene with protein product
Rare disease: Situs ambiguus (Orphanet code 157769)
Associated genes:
Name: polycystin 1 like 1, transient receptor potential channel interacting
Symbol: PKD1L1
Synonyms: lang: en
text: PRO19563
lang: en
text: polycystin-1L1
GeneType: Name: gene with protein product
Name: Zic family member 3
Symbol: ZIC3
Synonyms: lang: en
text: HTX
lang: en
text: ZNF203
GeneType: Name: gene with protein product
Name: activin A receptor type 2B
Symbol: ACVR2B
Synonyms: lang: en
text: ActR-IIB
GeneType: Name: gene with protein product
Name: left-right determination factor 2
Symbol: LEFTY2
Synonyms: lang: en
text: LEFTA
lang: en
text: LEFTYA
lang: en
text: transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 53
Symbol: CFAP53
Synonyms: lang: en
text: FLJ32743
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 21
Symbol: MMP21
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: ciliated left-right organizer metallopeptidase
Symbol: CIROP
GeneType: Name: gene with protein product
Name: dynein axonemal heavy chain 9
Symbol: DNAH9
Synonyms: lang: en
text: DNAL1
lang: en
text: DYH9
lang: en
text: Dnahc9
lang: en
text: HL-20
lang: en
text: HL20
lang: en
text: KIAA0357
GeneType: Name: gene with protein product
Name: cryptic, EGF-CFC family member 1
Symbol: CFC1
Synonyms: lang: en
text: CRYPTIC
GeneType: Name: gene with protein product
Rare disease: Late infantile CACH syndrome (Orphanet code 157716)
Associated genes:
Name: eukaryotic translation initiation factor 2B subunit alpha
Symbol: EIF2B1
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF-2Balpha
lang: en
text: EIF2BA
lang: en
text: EIF2Balpha
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit beta
Symbol: EIF2B2
Synonyms: lang: en
text: EIF-2Bbeta
lang: en
text: EIF2B
lang: en
text: EIF2Bbeta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit gamma
Symbol: EIF2B3
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bgamma
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit delta
Symbol: EIF2B4
Synonyms: lang: en
text: DKFZP586J0119
lang: en
text: EIF-2B
lang: en
text: EIF2B
lang: en
text: EIF2Bdelta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit epsilon
Symbol: EIF2B5
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bepsilon
GeneType: Name: gene with protein product
Rare disease: Juvenile or adult CACH syndrome (Orphanet code 157719)
Associated genes:
Name: eukaryotic translation initiation factor 2B subunit alpha
Symbol: EIF2B1
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF-2Balpha
lang: en
text: EIF2BA
lang: en
text: EIF2Balpha
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit beta
Symbol: EIF2B2
Synonyms: lang: en
text: EIF-2Bbeta
lang: en
text: EIF2B
lang: en
text: EIF2Bbeta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit gamma
Symbol: EIF2B3
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bgamma
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit delta
Symbol: EIF2B4
Synonyms: lang: en
text: DKFZP586J0119
lang: en
text: EIF-2B
lang: en
text: EIF2B
lang: en
text: EIF2Bdelta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit epsilon
Symbol: EIF2B5
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bepsilon
GeneType: Name: gene with protein product
Rare disease: Congenital or early infantile CACH syndrome (Orphanet code 157713)
Associated genes:
Name: eukaryotic translation initiation factor 2B subunit alpha
Symbol: EIF2B1
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF-2Balpha
lang: en
text: EIF2BA
lang: en
text: EIF2Balpha
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit beta
Symbol: EIF2B2
Synonyms: lang: en
text: EIF-2Bbeta
lang: en
text: EIF2B
lang: en
text: EIF2Bbeta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit gamma
Symbol: EIF2B3
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bgamma
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit delta
Symbol: EIF2B4
Synonyms: lang: en
text: DKFZP586J0119
lang: en
text: EIF-2B
lang: en
text: EIF2B
lang: en
text: EIF2Bdelta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit epsilon
Symbol: EIF2B5
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bepsilon
GeneType: Name: gene with protein product
Rare disease: Cataract-microcornea syndrome (Orphanet code 1377)
Associated genes:
Name: crystallin alpha A
Symbol: CRYAA
Synonyms: lang: en
text: HSPB4
GeneType: Name: gene with protein product
Name: crystallin beta A4
Symbol: CRYBA4
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: crystallin gamma C
Symbol: CRYGC
GeneType: Name: gene with protein product
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Name: crystallin beta B1
Symbol: CRYBB1
GeneType: Name: gene with protein product
Name: MAF bZIP transcription factor
Symbol: MAF
Synonyms: lang: en
text: c-MAF
GeneType: Name: gene with protein product
Rare disease: Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet code 157215)
Associated genes:
Name: solute carrier family 34 member 3
Symbol: SLC34A3
Synonyms: lang: en
text: FLJ38680
lang: en
text: NPT2C
lang: en
text: NPTIIc
lang: en
text: NaPi-2c
lang: en
text: Sodium-dependent phosphate transport protein 2C
GeneType: Name: gene with protein product
Name: solute carrier family 34 member 1
Symbol: SLC34A1
Synonyms: lang: en
text: NAPI-3
lang: en
text: NPTIIa
lang: en
text: Na+-phosphate cotransporter type II
lang: en
text: SLC11
lang: en
text: sodium/phosphate co-transporter
lang: en
text: solute carrier family 17 (sodium phosphate), member 2
GeneType: Name: gene with protein product
Rare disease: Camurati-Engelmann disease (Orphanet code 1328)
Associated genes:
Name: transforming growth factor beta 1
Symbol: TGFB1
Synonyms: lang: en
text: CED
lang: en
text: Camurati-Engelmann disease
lang: en
text: Diaphyseal dysplasia 1, progressive
lang: en
text: TGFbeta
lang: en
text: prepro-transforming growth factor beta-1
GeneType: Name: gene with protein product
Rare disease: Heart defect-tongue hamartoma-polysyndactyly syndrome (Orphanet code 1338)
Associated genes:
Name: WD repeat containing planar cell polarity effector
Symbol: WDPCP
Synonyms: lang: en
text: BBS15
lang: en
text: CPLANE5
lang: en
text: ciliogenesis and planar polarity effector complex subunit 5
lang: en
text: fritz
lang: en
text: hFrtz
GeneType: Name: gene with protein product
Rare disease: Cardiofaciocutaneous syndrome (Orphanet code 1340)
Associated genes:
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
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: mitogen-activated protein kinase kinase 1
Symbol: MAP2K1
Synonyms: lang: en
text: MAP kinase kinase 1
lang: en
text: MAPK/ERK kinase 1
lang: en
text: MAPKK1
lang: en
text: MEK1
lang: en
text: MKK1
lang: en
text: dual specificity mitogen-activated protein kinase kinase 1
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase kinase 2
Symbol: MAP2K2
Synonyms: lang: en
text: MAP kinase kinase 2
lang: en
text: MEK2
lang: en
text: MKK2
GeneType: Name: gene with protein product
Rare disease: Persistent Müllerian duct syndrome (Orphanet code 2856)
Associated genes:
Name: anti-Mullerian hormone
Symbol: AMH
Synonyms: lang: en
text: MIF
lang: en
text: MIS
lang: en
text: Muellerian-inhibiting factor
lang: en
text: Muellerian-inhibiting substance
GeneType: Name: gene with protein product
Name: anti-Mullerian hormone receptor type 2
Symbol: AMHR2
Synonyms: lang: en
text: MISR2
lang: en
text: MISRII
lang: en
text: Muellerian inhibiting substance type II receptor
GeneType: Name: gene with protein product
Rare disease: Dysequilibrium syndrome (Orphanet code 1766)
Associated genes:
Name: very low density lipoprotein receptor
Symbol: VLDLR
Synonyms: lang: en
text: CARMQ1
lang: en
text: CHRMQ1
lang: en
text: VLDLRCH
GeneType: Name: gene with protein product
Name: WD repeat domain 81
Symbol: WDR81
Synonyms: lang: en
text: CAMRQ2
lang: en
text: FLJ33817
lang: en
text: PPP1R166
lang: en
text: SORF-2
lang: en
text: protein phosphatase 1, regulatory subunit 166
GeneType: Name: gene with protein product
Name: carbonic anhydrase 8
Symbol: CA8
Synonyms: lang: en
text: CARP
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 8A2
Symbol: ATP8A2
Synonyms: lang: en
text: ATPIB
lang: en
text: ML-1
GeneType: Name: gene with protein product
Name: tubulin beta 2B class IIb
Symbol: TUBB2B
Synonyms: lang: en
text: DKFZp566F223
lang: en
text: MGC8685
lang: en
text: bA506K6.1
lang: en
text: class IIb beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Temtamy syndrome (Orphanet code 1777)
Associated genes:
Name: chromosome 12 open reading frame 57
Symbol: C12ORF57
Synonyms: lang: en
text: C10
lang: en
text: GRCC10
lang: en
text: gene rich cluster C10 gene
GeneType: Name: gene with protein product
Rare disease: 45,X/46,XY mixed gonadal dysgenesis (Orphanet code 1772)
Associated genes:
Name: sex determining region Y
Symbol: SRY
Synonyms: lang: en
text: TDF
lang: en
text: testis-determining factor
GeneType: Name: gene with protein product