TaoMedAI/RareMedData huggingface dataset:
Rare disease: Cranioectodermal dysplasia (Orphanet code 1515)
Associated genes:
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
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: intraflagellar transport 43
Symbol: IFT43
Synonyms: lang: en
text: FLJ32173
lang: en
text: MGC16028
GeneType: Name: gene with protein product
Name: WD repeat domain 19
Symbol: WDR19
Synonyms: lang: en
text: CFAP66
lang: en
text: DYF-2
lang: en
text: FAP66
lang: en
text: FLJ23127
lang: en
text: IFT144
lang: en
text: KIAA1638
lang: en
text: NPHP13
lang: en
text: ORF26
lang: en
text: Oseg6
lang: en
text: Pwdmp
lang: en
text: intraflagellar transport 144 homolog (Chlamydomonas)
GeneType: Name: gene with protein product
Name: intraflagellar transport 52
Symbol: IFT52
Synonyms: lang: en
text: CGI-53
lang: en
text: NGD2
lang: en
text: NGD5
lang: en
text: dJ1028D15.1
GeneType: Name: gene with protein product
Rare disease: Craniofacial-deafness-hand syndrome (Orphanet code 1529)
Associated genes:
Name: paired box 3
Symbol: PAX3
Synonyms: lang: en
text: HUP2
lang: en
text: PAX-3
GeneType: Name: gene with protein product
Rare disease: Craniometaphyseal dysplasia (Orphanet code 1522)
Associated genes:
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
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Rare disease: Cranio-osteoarthropathy (Orphanet code 1525)
Associated genes:
Name: 15-hydroxyprostaglandin dehydrogenase
Symbol: HPGD
Synonyms: lang: en
text: 15-hydroxyprostaglandin dehydrogenase (NAD(+))
lang: en
text: SDR36C1
lang: en
text: short chain dehydrogenase/reductase family 36C, member 1
GeneType: Name: gene with protein product
Rare disease: Lowry-Wood syndrome (Orphanet code 1824)
Associated genes:
Name: RNA, U4atac small nuclear
Symbol: RNU4ATAC
Synonyms: lang: en
text: RNU4ATAC1
lang: en
text: U4atac
lang: en
text: U4atac snRNA
GeneType: Name: Non-coding RNA
Rare disease: Spinocerebellar ataxia type 34 (Orphanet code 1955)
Associated genes:
Name: ELOVL fatty acid elongase 4
Symbol: ELOVL4
Synonyms: lang: en
text: CT118
lang: en
text: cancer/testis antigen 118
GeneType: Name: gene with protein product
Rare disease: Maternal phenylketonuria (Orphanet code 2209)
Associated genes:
Name: phenylalanine hydroxylase
Symbol: PAH
Synonyms: lang: en
text: PH
lang: en
text: phenylalanine 4-monooxygenase
GeneType: Name: gene with protein product
Rare disease: EEC syndrome (Orphanet code 1896)
Associated genes:
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
Rare disease: EEM syndrome (Orphanet code 1897)
Associated genes:
Name: cadherin 3
Symbol: CDH3
Synonyms: lang: en
text: CDHP
lang: en
text: P-cadherin
lang: en
text: PCAD
GeneType: Name: gene with protein product
Rare disease: Focal facial dermal dysplasia type III (Orphanet code 1807)
Associated genes:
Name: twist family bHLH transcription factor 2
Symbol: TWIST2
Synonyms: lang: en
text: DERMO1
lang: en
text: Dermo-1
lang: en
text: bHLHa39
GeneType: Name: gene with protein product
Rare disease: Jalili syndrome (Orphanet code 1873)
Associated genes:
Name: cyclin and CBS domain divalent metal cation transport mediator 4
Symbol: CNNM4
Synonyms: lang: en
text: KIAA1592
GeneType: Name: gene with protein product
Rare disease: Melorheostosis with osteopoikilosis (Orphanet code 1879)
Associated genes:
Name: LEM domain containing 3
Symbol: LEMD3
Synonyms: lang: en
text: MAN antigen 1
lang: en
text: MAN1
lang: en
text: inner nuclear membrane protein Man1
GeneType: Name: gene with protein product
Rare disease: Progressive cone dystrophy (Orphanet code 1871)
Associated genes:
Name: phosphodiesterase 6C
Symbol: PDE6C
Synonyms: lang: en
text: ACHM5
lang: en
text: COD4
lang: en
text: Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
lang: en
text: PDEA2
GeneType: Name: gene with protein product
Name: G protein subunit alpha transducin 2
Symbol: GNAT2
Synonyms: lang: en
text: ACHM4
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit beta 3
Symbol: CNGB3
GeneType: Name: gene with protein product
Name: guanylate cyclase activator 1A
Symbol: GUCA1A
Synonyms: lang: en
text: COD3
lang: en
text: CORD14
lang: en
text: GCAP
lang: en
text: GCAP-1
lang: en
text: GCAP-I
lang: en
text: GCAP1
lang: en
text: cone dystrophy 3
lang: en
text: dJ139D8.6
GeneType: Name: gene with protein product
Rare disease: Thanatophoric dysplasia type 1 (Orphanet code 1860)
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: Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet code 1865)
Associated genes:
Name: heparan sulfate proteoglycan 2
Symbol: HSPG2
Synonyms: lang: en
text: PRCAN
lang: en
text: endorepellin
lang: en
text: perlecan
lang: en
text: perlecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Schimke immuno-osseous dysplasia (Orphanet code 1830)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Symbol: SMARCAL1
Synonyms: lang: en
text: ATP-driven annealing helicase
lang: en
text: HARP
lang: en
text: HHARP
lang: en
text: HepA-related protein
GeneType: Name: gene with protein product
Rare disease: Ghosal hematodiaphyseal dysplasia (Orphanet code 1802)
Associated genes:
Name: thromboxane A synthase 1
Symbol: TBXAS1
Synonyms: lang: en
text: CYP5
lang: en
text: CYP5A1
lang: en
text: THAS
lang: en
text: TS
lang: en
text: TXAS
lang: en
text: TXS
lang: en
text: cytochrome P450, family 5, subfamily A, polypeptide 1
GeneType: Name: gene with protein product
Rare disease: Isolated hemihyperplasia (Orphanet code 2128)
Associated genes:
Name: insulin like growth factor 2
Symbol: IGF2
Synonyms: lang: en
text: FLJ44734
lang: en
text: IGF-II
lang: en
text: preptin
lang: en
text: somatomedin A
GeneType: Name: gene with protein product
Name: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Name: KCNQ1 opposite strand/antisense transcript 1
Symbol: KCNQ1OT1
Synonyms: lang: en
text: KCNQ1 antisense RNA 2 (non-protein coding)
lang: en
text: KCNQ1 overlapping transcript 1 (non-protein coding)
lang: en
text: KCNQ1-AS2
lang: en
text: KvDMR1
lang: en
text: KvLQT1-AS
lang: en
text: LIT1
lang: en
text: NCRNA00012
lang: en
text: non-protein coding RNA 12
GeneType: Name: Non-coding RNA
Rare disease: Hennekam syndrome (Orphanet code 2136)
Associated genes:
Name: collagen and calcium binding EGF domains 1
Symbol: CCBE1
Synonyms: lang: en
text: FLJ30681
lang: en
text: KIAA1983
GeneType: Name: gene with protein product
Name: FAT atypical cadherin 4
Symbol: FAT4
Synonyms: lang: en
text: CDHF14
lang: en
text: CDHR11
lang: en
text: FAT-J
lang: en
text: cadherin-related family member 11
GeneType: Name: gene with protein product
Name: ADAM metallopeptidase with thrombospondin type 1 motif 3
Symbol: ADAMTS3
Synonyms: lang: en
text: ADAMTS-4
lang: en
text: KIAA0366
GeneType: Name: gene with protein product
Rare disease: 46,XX ovotesticular difference of sex development (Orphanet code 2138)
Associated genes:
Name: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Name: sex determining region Y
Symbol: SRY
Synonyms: lang: en
text: TDF
lang: en
text: testis-determining factor
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 5 group A member 1
Symbol: NR5A1
Synonyms: lang: en
text: AD4BP
lang: en
text: ELP
lang: en
text: FTZ1
lang: en
text: SF-1
lang: en
text: SF1
lang: en
text: hSF-1
lang: en
text: steroidogenic factor 1
GeneType: Name: gene with protein product
Rare disease: Donnai-Barrow syndrome (Orphanet code 2143)
Associated genes:
Name: LDL receptor related protein 2
Symbol: LRP2
Synonyms: lang: en
text: DBS
lang: en
text: Megalin
lang: en
text: gp330
lang: en
text: megalin
GeneType: Name: gene with protein product
Rare disease: Lissencephaly type 1 due to doublecortin gene mutation (Orphanet code 2148)
Associated genes:
Name: doublecortin
Symbol: DCX
Synonyms: lang: en
text: DBCN
lang: en
text: DC
lang: en
text: LISX
lang: en
text: SCLH
lang: en
text: XLIS
lang: en
text: doublecortex
GeneType: Name: gene with protein product
Rare disease: Hallermann-Streiff syndrome (Orphanet code 2108)
Associated genes:
Name: chromodomain helicase DNA binding protein 6
Symbol: CHD6
Synonyms: lang: en
text: CHD5
lang: en
text: FLJ22369
lang: en
text: KIAA1335
lang: en
text: RIGB
lang: en
text: dJ620E11.1
GeneType: Name: gene with protein product
Rare disease: Hip dysplasia, Beukes type (Orphanet code 2114)
Associated genes:
Name: UFM1 specific peptidase 2
Symbol: UFSP2
Synonyms: lang: en
text: FLJ11200
GeneType: Name: gene with protein product
Rare disease: Hartsfield syndrome (Orphanet code 2117)
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
Rare disease: Gordon syndrome (Orphanet code 376)
Associated genes:
Name: piezo type mechanosensitive ion channel component 2
Symbol: PIEZO2
Synonyms: lang: en
text: FLJ23144
lang: en
text: FLJ23403
lang: en
text: FLJ34907
lang: en
text: HsT748
lang: en
text: HsT771
GeneType: Name: gene with protein product
Rare disease: Focal dermal hypoplasia (Orphanet code 2092)
Associated genes:
Name: porcupine O-acyltransferase
Symbol: PORCN
Synonyms: lang: en
text: MG61
lang: en
text: PORC
lang: en
text: PPN
lang: en
text: por
GeneType: Name: gene with protein product
Rare disease: Acromesomelic dysplasia, Grebe type (Orphanet code 2098)
Associated genes:
Name: bone morphogenetic protein receptor type 1B
Symbol: BMPR1B
Synonyms: lang: en
text: ALK6
lang: en
text: CDw293
GeneType: Name: gene with protein product
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product
Rare disease: Greig cephalopolysyndactyly syndrome (Orphanet code 380)
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: Gorlin-Chaudhry-Moss syndrome (Orphanet code 2095)
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: Sea-blue histiocytosis (Orphanet code 158029)
Associated genes:
Name: apolipoprotein E
Symbol: APOE
GeneType: Name: gene with protein product
Rare disease: Neuroferritinopathy (Orphanet code 157846)
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: GAPO syndrome (Orphanet code 2067)
Associated genes:
Name: ANTXR cell adhesion molecule 1
Symbol: ANTXR1
Synonyms: lang: en
text: ATR
lang: en
text: Anthrax toxin receptor
lang: en
text: FLJ10601
lang: en
text: FLJ21776
lang: en
text: TEM8
lang: en
text: Tumor endothelial marker 8 precursor
lang: en
text: anthrax toxin receptor
lang: en
text: tumor endothelial marker 8 precursor
GeneType: Name: gene with protein product
Rare disease: Galloway-Mowat syndrome (Orphanet code 2065)
Associated genes:
Name: O-sialoglycoprotein endopeptidase
Symbol: OSGEP
Synonyms: lang: en
text: GCPL1
lang: en
text: KAE1
lang: en
text: OSGEP1
lang: en
text: PRSMG1
lang: en
text: TCS3
GeneType: Name: gene with protein product
Name: TP53 regulating kinase
Symbol: TP53RK
Synonyms: lang: en
text: BUD32
lang: en
text: Nori-2p
lang: en
text: TPRKB
lang: en
text: dJ101A2.2
lang: en
text: p53-related protein kinase
lang: en
text: prpk
GeneType: Name: gene with protein product
Name: WD repeat domain 73
Symbol: WDR73
Synonyms: lang: en
text: FLJ14888
lang: en
text: HSPC264
GeneType: Name: gene with protein product
Name: nucleoporin 107
Symbol: NUP107
Synonyms: lang: en
text: NUP84
lang: en
text: nuclear pore complex protein Nup107
GeneType: Name: gene with protein product
Name: TP53RK binding protein
Symbol: TPRKB
Synonyms: lang: en
text: CGI-121
lang: en
text: CGI121
GeneType: Name: gene with protein product
Name: L antigen family member 3
Symbol: LAGE3
Synonyms: lang: en
text: CVG5
lang: en
text: DNA segment on chromosome X (unique) 9879 expressed sequence
lang: en
text: DXS9879E
lang: en
text: DXS9951E
lang: en
text: ESO3
lang: en
text: ITBA2
lang: en
text: Pcc1
GeneType: Name: gene with protein product
Name: WD repeat domain 4
Symbol: WDR4
Synonyms: lang: en
text: TRM82
lang: en
text: TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)
lang: en
text: TRMT82
lang: en
text: Wuho
GeneType: Name: gene with protein product
Name: GON7 subunit of KEOPS complex
Symbol: GON7
GeneType: Name: gene with protein product
Name: nucleoporin 133
Symbol: NUP133
Synonyms: lang: en
text: FLJ10814
GeneType: Name: gene with protein product
Name: yrdC N6-threonylcarbamoyltransferase domain containing
Symbol: YRDC
Synonyms: lang: en
text: FLJ23476
lang: en
text: IRIP
lang: en
text: SUA5
lang: en
text: ischemia/reperfusion inducible protein
GeneType: Name: gene with protein product
Rare disease: Huntington disease-like 1 (Orphanet code 157941)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome (Orphanet code 2072)
Associated genes:
Name: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
GeneType: Name: gene with protein product
Rare disease: ANE syndrome (Orphanet code 157954)
Associated genes:
Name: RNA binding motif protein 28
Symbol: RBM28
Synonyms: lang: en
text: FLJ10377
lang: en
text: NOP4
GeneType: Name: gene with protein product
Rare disease: Oculoauricular syndrome, Schorderet type (Orphanet code 157962)
Associated genes:
Name: H6 family homeobox 1
Symbol: HMX1
Synonyms: lang: en
text: H6
lang: en
text: Homeobox protein HMX1
lang: en
text: NK5 homeobox 3
lang: en
text: NKX5-3
GeneType: Name: gene with protein product
Rare disease: Geroderma osteodysplastica (Orphanet code 2078)
Associated genes:
Name: golgin, RAB6 interacting
Symbol: GORAB
Synonyms: lang: en
text: FLJ11752
lang: en
text: GO
lang: en
text: NTKL-BP1
lang: en
text: RAB6-interacting golgin
lang: en
text: gerodermia osteodysplastica
GeneType: Name: gene with protein product
Name: pyrroline-5-carboxylate reductase 1
Symbol: PYCR1
Synonyms: lang: en
text: P5C
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency with granulomatosis (Orphanet code 157949)
Associated genes:
Name: INO80 complex ATPase subunit
Symbol: INO80
Synonyms: lang: en
text: INO80 complex subunit A
lang: en
text: INO80A
lang: en
text: KIAA1259
lang: en
text: hINO80
GeneType: Name: gene with protein product
Name: recombination activating 1
Symbol: RAG1
Synonyms: lang: en
text: MGC43321
lang: en
text: RING finger protein 74
lang: en
text: RNF74
lang: en
text: V(D)J recombination-activating protein 1
lang: en
text: recombination activating protein 1
GeneType: Name: gene with protein product
Name: recombination activating 2
Symbol: RAG2
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy due to LMNA mutation (Orphanet code 157973)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (Orphanet code 2084)
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: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome (Orphanet code 157965)
Associated genes:
Name: solute carrier family 39 member 13
Symbol: SLC39A13
Synonyms: lang: en
text: FLJ25785
lang: en
text: LIV-1 subfamily of ZIP zinc transporters human member 9
lang: en
text: LZT-Hs9
lang: en
text: ZIP-13
lang: en
text: ZIP13
lang: en
text: ZRT/IRT-like protein 13
lang: en
text: Zinc transporter ZIP13
lang: en
text: zinc transporter 13
GeneType: Name: gene with protein product
Rare disease: Frontometaphyseal dysplasia (Orphanet code 1826)
Associated genes:
Name: mitogen-activated protein kinase kinase kinase 7
Symbol: MAP3K7
Synonyms: lang: en
text: MEKK7
lang: en
text: TGF-beta activated kinase 1
GeneType: Name: gene with protein product
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Rare disease: Cole-Carpenter syndrome (Orphanet code 2050)
Associated genes:
Name: prolyl 4-hydroxylase subunit beta
Symbol: P4HB
Synonyms: lang: en
text: DSI
lang: en
text: GIT
lang: en
text: P4Hbeta
lang: en
text: PDI
lang: en
text: PDIA1
lang: en
text: PO4HB
lang: en
text: PROHB
lang: en
text: collagen prolyl 4-hydroxylase beta
lang: en
text: protein disulfide isomerase family A, member 1
lang: en
text: protein disulfide isomerase-associated 1
GeneType: Name: gene with protein product
Name: SEC24 homolog D, COPII coat complex component
Symbol: SEC24D
Synonyms: lang: en
text: KIAA0755
GeneType: Name: gene with protein product
Name: cartilage associated protein
Symbol: CRTAP
Synonyms: lang: en
text: CASP
lang: en
text: LEPREL3
lang: en
text: P3H5
lang: en
text: leprecan-like 3
lang: en
text: prolyl 3-hydroxylase family member 5 (non-enzymatic)
GeneType: Name: gene with protein product
Rare disease: Fryns syndrome (Orphanet code 2059)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class N
Symbol: PIGN
Synonyms: lang: en
text: GPI ethanolamine phosphate transferase 1
lang: en
text: MCD4
lang: en
text: MDC4
lang: en
text: PIG-N
GeneType: Name: gene with protein product
Rare disease: Gingival fibromatosis-hypertrichosis syndrome (Orphanet code 2026)
Associated genes:
Name: ATP binding cassette subfamily A member 5
Symbol: ABCA5
Synonyms: lang: en
text: EST90625
GeneType: Name: gene with protein product
Rare disease: Juvenile hyaline fibromatosis (Orphanet code 2028)
Associated genes:
Name: ANTXR cell adhesion molecule 2
Symbol: ANTXR2
Synonyms: lang: en
text: CMG-2
lang: en
text: CMG2
lang: en
text: FLJ31074
lang: en
text: capillary morphogenesis protein 2
GeneType: Name: gene with protein product
Rare disease: Fibrochondrogenesis (Orphanet code 2021)
Associated genes:
Name: collagen type XI alpha 1 chain
Symbol: COL11A1
Synonyms: lang: en
text: CO11A1
lang: en
text: STL2
lang: en
text: collagen XI, alpha-1 polypeptide
GeneType: Name: gene with protein product
Name: collagen type XI alpha 2 chain
Symbol: COL11A2
Synonyms: lang: en
text: HKE5
GeneType: Name: gene with protein product
Rare disease: Hereditary gingival fibromatosis (Orphanet code 2024)
Associated genes:
Name: gingival fibromatosis, hereditary, 2
Symbol: GINGF2
Synonyms: lang: en
text: GGF2
lang: en
text: HGF2
GeneType: Name: Disorder-associated locus
Name: SOS Ras/Rac guanine nucleotide exchange factor 1
Symbol: SOS1
Synonyms: lang: en
text: GF1
lang: en
text: HGF
GeneType: Name: gene with protein product
Name: RE1 silencing transcription factor
Symbol: REST
Synonyms: lang: en
text: NRSF
lang: en
text: XBR
lang: en
text: neuron-restrictive silencer factor
GeneType: Name: gene with protein product
Rare disease: Floating-Harbor syndrome (Orphanet code 2044)
Associated genes:
Name: Snf2 related CREBBP activator protein
Symbol: SRCAP
Synonyms: lang: en
text: DOMO1
lang: en
text: Domino homolog 1 (Drosophila)
lang: en
text: EAF1
lang: en
text: KIAA0309
lang: en
text: SWR1
lang: en
text: Swi2/Snf2-related ATPase homolog (S. cerevisiae)
lang: en
text: domino homolog 1 (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Scalp-ear-nipple syndrome (Orphanet code 2036)
Associated genes:
Name: potassium channel tetramerization domain containing 1
Symbol: KCTD1
GeneType: Name: gene with protein product
Rare disease: Plaque-form urticaria pigmentosa (Orphanet code 158769)
Associated genes:
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: Typical urticaria pigmentosa (Orphanet code 158766)
Associated genes:
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: Lethal acantholytic erosive disorder (Orphanet code 158687)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: junction plakoglobin
Symbol: JUP
Synonyms: lang: en
text: DP3
lang: en
text: DPIII
lang: en
text: PDGB
lang: en
text: PG
lang: en
text: PKGB
lang: en
text: desmosomal protein 3
GeneType: Name: gene with protein product
Rare disease: Epidermolysis bullosa simplex with pyloric atresia (Orphanet code 158684)
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
Rare disease: Epidermolysis bullosa simplex with circinate migratory erythema (Orphanet code 158681)
Associated genes:
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product