TaoMedAI/RareMedData huggingface dataset:
Rare disease: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (Orphanet code 88924)
Associated genes:
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: polycystin 1, transient receptor potential channel interacting
Symbol: PKD1
Synonyms: lang: en
text: PBP
lang: en
text: Pc-1
lang: en
text: TRPP1
lang: en
text: polycystin 1
lang: en
text: transient receptor potential cation channel, subfamily P, member 1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Alport syndrome (Orphanet code 88918)
Associated genes:
Name: collagen type IV alpha 3 chain
Symbol: COL4A3
Synonyms: lang: en
text: tumstatin
GeneType: Name: gene with protein product
Name: collagen type IV alpha 4 chain
Symbol: COL4A4
Synonyms: lang: en
text: CA44
lang: en
text: collagen of basement membrane, alpha-4 chain
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Alport syndrome (Orphanet code 88919)
Associated genes:
Name: collagen type IV alpha 3 chain
Symbol: COL4A3
Synonyms: lang: en
text: tumstatin
GeneType: Name: gene with protein product
Name: collagen type IV alpha 4 chain
Symbol: COL4A4
Synonyms: lang: en
text: CA44
lang: en
text: collagen of basement membrane, alpha-4 chain
GeneType: Name: gene with protein product
Rare disease: X-linked Alport syndrome (Orphanet code 88917)
Associated genes:
Name: collagen type IV alpha 5 chain
Symbol: COL4A5
GeneType: Name: gene with protein product
Rare disease: Fragile X-associated tremor/ataxia syndrome (Orphanet code 93256)
Associated genes:
Name: fragile X messenger ribonucleoprotein 1
Symbol: FMR1
Synonyms: lang: en
text: FMRP
lang: en
text: FRAXA
lang: en
text: MGC87458
GeneType: Name: gene with protein product
Rare disease: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome (Orphanet code 528105)
Associated genes:
Name: claudin 10
Symbol: CLDN10
Synonyms: lang: en
text: CPETRL3
lang: en
text: OSP-L
GeneType: Name: gene with protein product
Rare disease: Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (Orphanet code 528091)
Associated genes:
Name: leucyl-tRNA synthetase 2, mitochondrial
Symbol: LARS2
Synonyms: lang: en
text: KIAA0028
lang: en
text: LEURS
lang: en
text: Leucine tRNA ligase 2, mitochondrial
lang: en
text: MGC26121
lang: en
text: leucine tRNA ligase 2, mitochondrial
lang: en
text: mtLeuRS
GeneType: Name: gene with protein product
Rare disease: Crouzon syndrome-acanthosis nigricans syndrome (Orphanet code 93262)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: Pfeiffer syndrome type 3 (Orphanet code 93260)
Associated genes:
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Pfeiffer syndrome type 2 (Orphanet code 93259)
Associated genes:
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Pfeiffer syndrome type 1 (Orphanet code 93258)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet code 93271)
Associated genes:
Name: intraflagellar transport 80
Symbol: IFT80
Synonyms: lang: en
text: CFAP167
lang: en
text: FAP167
lang: en
text: KIAA1374
GeneType: Name: gene with protein product
Name: dynein cytoplasmic 2 heavy chain 1
Symbol: DYNC2H1
Synonyms: lang: en
text: DHC1b
lang: en
text: DHC2
lang: en
text: DYH1B
lang: en
text: hdhc11
GeneType: Name: gene with protein product
Name: WD repeat domain 35
Symbol: WDR35
Synonyms: lang: en
text: CFAP118
lang: en
text: FAP118
lang: en
text: IFT121
lang: en
text: IFTA1
lang: en
text: KIAA1336
lang: en
text: MGC33196
GeneType: Name: gene with protein product
Name: dynein 2 intermediate chain 1
Symbol: DYNC2I1
Synonyms: lang: en
text: CFAP163
lang: en
text: DIC6
lang: en
text: FAP163
lang: en
text: FLJ10300
GeneType: Name: gene with protein product
Name: dynein 2 intermediate chain 2
Symbol: DYNC2I2
Synonyms: lang: en
text: CFAP133
lang: en
text: DIC5
lang: en
text: FAP133
lang: en
text: MGC20486
lang: en
text: bA216B9.3
GeneType: Name: gene with protein product
Rare disease: Short rib-polydactyly syndrome, Majewski type (Orphanet code 93269)
Associated genes:
Name: TRAF3 interacting protein 1
Symbol: TRAF3IP1
Synonyms: lang: en
text: CFAP116
lang: en
text: DKFZP434F124
lang: en
text: FAP116
lang: en
text: IFT54
lang: en
text: MIP-T3
lang: en
text: MIPT3
lang: en
text: microtubule interacting protein that associates with TRAF3
GeneType: Name: gene with protein product
Name: dynein cytoplasmic 2 heavy chain 1
Symbol: DYNC2H1
Synonyms: lang: en
text: DHC1b
lang: en
text: DHC2
lang: en
text: DYH1B
lang: en
text: hdhc11
GeneType: Name: gene with protein product
Name: NIMA related kinase 1
Symbol: NEK1
Synonyms: lang: en
text: KIAA1901
lang: en
text: NY-REN-55
GeneType: Name: gene with protein product
Rare disease: Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet code 93270)
Associated genes:
Name: dynein cytoplasmic 2 heavy chain 1
Symbol: DYNC2H1
Synonyms: lang: en
text: DHC1b
lang: en
text: DHC2
lang: en
text: DYH1B
lang: en
text: hdhc11
GeneType: Name: gene with protein product
Rare disease: Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet code 93268)
Associated genes:
Name: intraflagellar transport 80
Symbol: IFT80
Synonyms: lang: en
text: CFAP167
lang: en
text: FAP167
lang: en
text: KIAA1374
GeneType: Name: gene with protein product
Name: intraflagellar transport 122
Symbol: IFT122
Synonyms: lang: en
text: CFAP80
lang: en
text: FAP80
lang: en
text: SPG
lang: en
text: WDR10p
lang: en
text: WDR140
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, PAPSS2 type (Orphanet code 93282)
Associated genes:
Name: 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Symbol: PAPSS2
Synonyms: lang: en
text: ATPSK2
lang: en
text: PAPS synthase 2
lang: en
text: adenosine 5'-phosphosulfate kinase
lang: en
text: adenylyl-sulfate kinase
lang: en
text: bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
lang: en
text: sulfate adenylyltransferase
GeneType: Name: gene with protein product
Rare disease: Spondyloepiphyseal dysplasia, Kimberley type (Orphanet code 93283)
Associated genes:
Name: aggrecan
Symbol: ACAN
Synonyms: lang: en
text: CSPGCP
lang: en
text: aggrecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (Orphanet code 93279)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Polyostotic fibrous dysplasia (Orphanet code 93276)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Monostotic fibrous dysplasia (Orphanet code 93277)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Thanatophoric dysplasia type 2 (Orphanet code 93274)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy (Orphanet code 527497)
Associated genes:
Name: NK6 homeobox 2
Symbol: NKX6-2
Synonyms: lang: en
text: GTX
lang: en
text: NKX6.1
lang: en
text: NKX6B
GeneType: Name: gene with protein product
Rare disease: Posterior urethral valve (Orphanet code 93110)
Associated genes:
Name: basonuclin zinc finger protein 2
Symbol: BNC2
Synonyms: lang: en
text: BSN2
lang: en
text: FLJ20043
lang: en
text: bn2
GeneType: Name: gene with protein product
Rare disease: Severe myopia-generalized joint laxity-short stature syndrome (Orphanet code 527450)
Associated genes:
Name: GDNF inducible zinc finger protein 1
Symbol: GZF1
Synonyms: lang: en
text: ZBTB23
lang: en
text: dJ322G13.2
GeneType: Name: gene with protein product
Rare disease: Renal agenesis, unilateral (Orphanet code 93100)
Associated genes:
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Name: Fraser extracellular matrix complex subunit 1
Symbol: FRAS1
Synonyms: lang: en
text: FLJ14927
lang: en
text: FLJ22031
lang: en
text: KIAA1500
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 4
Symbol: BMP4
GeneType: Name: gene with protein product
Name: FRAS1 related extracellular matrix 2
Symbol: FREM2
Synonyms: lang: en
text: DKFZp686J0811
GeneType: Name: gene with protein product
Name: FRAS1 related extracellular matrix 1
Symbol: FREM1
Synonyms: lang: en
text: C9orf143
lang: en
text: C9orf145
lang: en
text: DKFZp686M16108
lang: en
text: FLJ25461
lang: en
text: TILRR
GeneType: Name: gene with protein product
Name: uroplakin 3A
Symbol: UPK3A
GeneType: Name: gene with protein product
Name: dual serine/threonine and tyrosine protein kinase
Symbol: DSTYK
Synonyms: lang: en
text: DustyPK
lang: en
text: KIAA0472
lang: en
text: RIP5
GeneType: Name: gene with protein product
Name: GREB1 like retinoic acid receptor coactivator
Symbol: GREB1L
Synonyms: lang: en
text: C18orf6
lang: en
text: FLJ13687
GeneType: Name: gene with protein product
Rare disease: Diaphragmatic hernia-short bowel-asplenia syndrome (Orphanet code 527468)
Associated genes:
Name: H2.0 like homeobox
Symbol: HLX
Synonyms: lang: en
text: HB24
GeneType: Name: gene with protein product
Rare disease: Congenital tufting enteropathy (Orphanet code 92050)
Associated genes:
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: proline and glutamate rich with coiled coil 1
Symbol: PERCC1
GeneType: Name: gene with protein product
Rare disease: Hypocalcemic vitamin D-resistant rickets (Orphanet code 93160)
Associated genes:
Name: vitamin D receptor
Symbol: VDR
Synonyms: lang: en
text: 1,25- dihydroxyvitamin D3 receptor
lang: en
text: NR1I1
lang: en
text: PPP1R163
lang: en
text: protein phosphatase 1, regulatory subunit 163
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet code 93114)
Associated genes:
Name: inverted formin, FH2 and WH2 domain containing
Symbol: INF2
Synonyms: lang: en
text: MGC13251
lang: en
text: inverted formin 2
GeneType: Name: gene with protein product
Rare disease: HNF1B-related autosomal dominant tubulointerstitial kidney disease (Orphanet code 93111)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Renal dysplasia, unilateral (Orphanet code 93172)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Renal dysplasia, bilateral (Orphanet code 93173)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Isolated tibial hemimelia (Orphanet code 93322)
Associated genes:
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Rare disease: Isolated radial hemimelia (Orphanet code 93321)
Associated genes:
Name: limb development membrane protein 1
Symbol: LMBR1
Synonyms: lang: en
text: ACHP
lang: en
text: FLJ11665
lang: en
text: ZRS
GeneType: Name: gene with protein product
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Kenny-Caffey syndrome (Orphanet code 93325)
Associated genes:
Name: FAM111 trypsin like peptidase A
Symbol: FAM111A
Synonyms: lang: en
text: FLJ22794
lang: en
text: KIAA1895
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Kenny-Caffey syndrome (Orphanet code 93324)
Associated genes:
Name: tubulin folding cofactor E
Symbol: TBCE
Synonyms: lang: en
text: KCS1
lang: en
text: pac2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive omodysplasia (Orphanet code 93329)
Associated genes:
Name: glypican 6
Symbol: GPC6
Synonyms: lang: en
text: glypican proteoglycan 6
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant omodysplasia (Orphanet code 93328)
Associated genes:
Name: frizzled class receptor 2
Symbol: FZD2
GeneType: Name: gene with protein product
Rare disease: Polydactyly of a triphalangeal thumb (Orphanet code 93336)
Associated genes:
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Name: limb development membrane protein 1
Symbol: LMBR1
Synonyms: lang: en
text: ACHP
lang: en
text: FLJ11665
lang: en
text: ZRS
GeneType: Name: gene with protein product
Rare disease: Postaxial polydactyly type B (Orphanet code 93335)
Associated genes:
Name: GLI family zinc finger 1
Symbol: GLI1
GeneType: Name: gene with protein product
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Rare disease: Postaxial polydactyly type A (Orphanet code 93334)
Associated genes:
Name: GLI family zinc finger 1
Symbol: GLI1
GeneType: Name: gene with protein product
Name: KIAA0825
Symbol: KIAA0825
Synonyms: lang: en
text: DKFZp686F0372
lang: en
text: MGC34713
GeneType: Name: gene with protein product
Name: zinc finger protein 141
Symbol: ZNF141
Synonyms: lang: en
text: pHZ-44
GeneType: Name: gene with protein product
Name: IQ motif containing E
Symbol: IQCE
Synonyms: lang: en
text: KIAA1023
GeneType: Name: gene with protein product
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Name: CBY1 interacting BAR domain containing 1
Symbol: CIBAR1
Synonyms: lang: en
text: BARMR1
lang: en
text: FLJ38979
GeneType: Name: gene with protein product
Rare disease: Pelviscapular dysplasia (Orphanet code 93333)
Associated genes:
Name: T-box transcription factor 15
Symbol: TBX15
GeneType: Name: gene with protein product
Rare disease: Polydactyly of a biphalangeal thumb and/or hallux (Orphanet code 93339)
Associated genes:
Name: GLI family zinc finger 1
Symbol: GLI1
GeneType: Name: gene with protein product
Rare disease: Polysyndactyly (Orphanet code 93338)
Associated genes:
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Rare disease: X-linked spondyloepimetaphyseal dysplasia (Orphanet code 93349)
Associated genes:
Name: biglycan
Symbol: BGN
Synonyms: lang: en
text: DSPG1
lang: en
text: SLRR1A
lang: en
text: biglycan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet code 93346)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Anauxetic dysplasia (Orphanet code 93347)
Associated genes:
Name: RNA component of mitochondrial RNA processing endoribonuclease
Symbol: RMRP
Synonyms: lang: en
text: NME1
lang: en
text: RMRPR
lang: en
text: RNase MRP RNA
lang: en
text: RRP2
GeneType: Name: Non-coding RNA
Name: POP1 homolog, ribonuclease P/MRP subunit
Symbol: POP1
Synonyms: lang: en
text: processing of precursors 1
GeneType: Name: gene with protein product
Name: nucleolus and neural progenitor protein
Symbol: NEPRO
Synonyms: lang: en
text: DKFZP434F2021
lang: en
text: NET17
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet code 93356)
Associated genes:
Name: matrix metallopeptidase 13
Symbol: MMP13
Synonyms: lang: en
text: CLG3
lang: en
text: collagenase 3
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet code 93352)
Associated genes:
Name: DDRGK domain containing 1
Symbol: DDRGK1
Synonyms: lang: en
text: Dashurin
lang: en
text: UFBP1
lang: en
text: dJ1187M17.3
GeneType: Name: gene with protein product
Rare disease: Spondyloepiphyseal dysplasia tarda (Orphanet code 93284)
Associated genes:
Name: trafficking protein particle complex subunit 2
Symbol: TRAPPC2
Synonyms: lang: en
text: MIP-2A
lang: en
text: SEDT
lang: en
text: TRS20
lang: en
text: ZNF547L
lang: en
text: hYP38334
GeneType: Name: gene with protein product
Rare disease: Achondrogenesis type 2 (Orphanet code 93296)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Achondrogenesis type 1B (Orphanet code 93298)
Associated genes:
Name: solute carrier family 26 member 2
Symbol: SLC26A2
Synonyms: lang: en
text: DTDST
lang: en
text: diastrophic dysplasia sulfate transporter
GeneType: Name: gene with protein product
Rare disease: Hypochondrogenesis (Orphanet code 93297)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Achondrogenesis type 1A (Orphanet code 93299)
Associated genes:
Name: thyroid hormone receptor interactor 11
Symbol: TRIP11
Synonyms: lang: en
text: CEV14
lang: en
text: GMAP-210
lang: en
text: GMAP210
lang: en
text: Trip230
lang: en
text: golgi-microtubule-associated-protein of 210 kDa
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant brachyolmia (Orphanet code 93304)
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: Multiple epiphyseal dysplasia type 4 (Orphanet code 93307)
Associated genes:
Name: solute carrier family 26 member 2
Symbol: SLC26A2
Synonyms: lang: en
text: DTDST
lang: en
text: diastrophic dysplasia sulfate transporter
GeneType: Name: gene with protein product
Rare disease: Multiple epiphyseal dysplasia type 1 (Orphanet code 93308)
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
Rare disease: Multiple epiphyseal dysplasia type 5 (Orphanet code 93311)
Associated genes:
Name: matrilin 3
Symbol: MATN3
Synonyms: lang: en
text: EDM5
lang: en
text: HOA
GeneType: Name: gene with protein product
Rare disease: Spondylometaphyseal dysplasia, Kozlowski type (Orphanet code 93314)
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: Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet code 93315)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Name: fibronectin 1
Symbol: FN1
Synonyms: lang: en
text: CIG
lang: en
text: Cold-insoluble globulin
lang: en
text: FINC
lang: en
text: GFND2
lang: en
text: LETS
lang: en
text: MSF
lang: en
text: Migration-stimulating factor
lang: en
text: cold-insoluble globulin
lang: en
text: lnc-ABCA12-8
lang: en
text: migration-stimulating factor
GeneType: Name: gene with protein product
Rare disease: Spondylometaphyseal dysplasia, Schmidt type (Orphanet code 93316)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet code 93317)
Associated genes:
Name: glutathione peroxidase 4
Symbol: GPX4
Synonyms: lang: en
text: MCSP
lang: en
text: PHGPx
lang: en
text: phospholipid hydroperoxidase
lang: en
text: selenoprotein GPX4
GeneType: Name: gene with protein product