TaoMedAI/RareMedData huggingface dataset:
Rare disease: 17q24.2 microdeletion syndrome (Orphanet code 529962)
Associated genes:
Name: bromodomain PHD finger transcription factor
Symbol: BPTF
Synonyms: lang: en
text: FAC1
lang: en
text: NURF301
GeneType: Name: gene with protein product
Name: proteasome 26S subunit, non-ATPase 12
Symbol: PSMD12
Synonyms: lang: en
text: Rpn5
lang: en
text: p55
GeneType: Name: gene with protein product
Rare disease: Hypothyroidism due to TSH receptor mutations (Orphanet code 90673)
Associated genes:
Name: thyroid stimulating hormone receptor
Symbol: TSHR
Synonyms: lang: en
text: LGR3
GeneType: Name: gene with protein product
Rare disease: Isolated thyroid-stimulating hormone deficiency (Orphanet code 90674)
Associated genes:
Name: thyroid stimulating hormone subunit beta
Symbol: TSHB
Synonyms: lang: en
text: thyrotropin subunit beta
GeneType: Name: gene with protein product
Rare disease: Letrozole toxicity (Orphanet code 529831)
Associated genes:
Name: cytochrome P450 family 2 subfamily A member 6
Symbol: CYP2A6
Synonyms: lang: en
text: CPA6
lang: en
text: CYP2A
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1E (Orphanet code 90658)
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
Rare disease: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (Orphanet code 90791)
Associated genes:
Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Symbol: HSD3B2
Synonyms: lang: en
text: SDR11E2
lang: en
text: short chain dehydrogenase/reductase family 11E, member 2
GeneType: Name: gene with protein product
Rare disease: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome (Orphanet code 529980)
Associated genes:
Name: nuclear factor of activated T cells 5
Symbol: NFAT5
Synonyms: lang: en
text: KIAA0827
lang: en
text: NF-AT5
lang: en
text: NFATL1
lang: en
text: NFATZ
lang: en
text: OREBP
lang: en
text: TONEBP
lang: en
text: tonicity-responsive enhancer binding protein
GeneType: Name: gene with protein product
Rare disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome (Orphanet code 529977)
Associated genes:
Name: receptor interacting serine/threonine kinase 1
Symbol: RIPK1
Synonyms: lang: en
text: RIP
lang: en
text: RIP-1
lang: en
text: RIP1
lang: en
text: receptor-interacting protein kinase 1
GeneType: Name: gene with protein product
Rare disease: Non-acquired panhypopituitarism (Orphanet code 90695)
Associated genes:
Name: SRY-box transcription factor 3
Symbol: SOX3
GeneType: Name: gene with protein product
Name: PROP paired-like homeobox 1
Symbol: PROP1
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome (Orphanet code 529965)
Associated genes:
Name: chromodomain helicase DNA binding protein 1
Symbol: CHD1
GeneType: Name: gene with protein product
Rare disease: Male infertility due to acephalic spermatozoa (Orphanet code 529970)
Associated genes:
Name: polyamine modulated factor 1 binding protein 1
Symbol: PMFBP1
GeneType: Name: gene with protein product
Name: Sad1 and UNC84 domain containing 5
Symbol: SUN5
Synonyms: lang: en
text: TSARG4
lang: en
text: dJ726C3.1
lang: en
text: testis and spermatogenesis related gene 4
GeneType: Name: gene with protein product
Rare disease: Rare X-linked non-syndromic sensorineural deafness type DFN (Orphanet code 90625)
Associated genes:
Name: phosphoribosyl pyrophosphate synthetase 1
Symbol: PRPS1
Synonyms: lang: en
text: CMTX5
lang: en
text: DFNX1
lang: en
text: PPRibP
lang: en
text: PRS I
lang: en
text: PRS-I
lang: en
text: ribose-phosphate diphosphokinase 1
GeneType: Name: gene with protein product
Name: collagen type IV alpha 6 chain
Symbol: COL4A6
GeneType: Name: gene with protein product
Name: small muscle protein X-linked
Symbol: SMPX
Synonyms: lang: en
text: Chisel
lang: en
text: Csl
lang: en
text: DFNX4
GeneType: Name: gene with protein product
Rare disease: Duane retraction syndrome with congenital deafness (Orphanet code 529574)
Associated genes:
Name: MAF bZIP transcription factor B
Symbol: MAFB
GeneType: Name: gene with protein product
Rare disease: Hypotrichosis simplex of the scalp (Orphanet code 90368)
Associated genes:
Name: keratin 74
Symbol: KRT74
Synonyms: lang: en
text: K6IRS4
lang: en
text: KRT5C
lang: en
text: KRT6IRS4
GeneType: Name: gene with protein product
Name: corneodesmosin
Symbol: CDSN
Synonyms: lang: en
text: D6S586E
GeneType: Name: gene with protein product
Rare disease: Telangiectasia macularis eruptiva perstans (Orphanet code 90389)
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: Stickler syndrome type 1 (Orphanet code 90653)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Otopalatodigital syndrome type 2 (Orphanet code 90652)
Associated genes:
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: Stickler syndrome type 2 (Orphanet code 90654)
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
Rare disease: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (Orphanet code 529665)
Associated genes:
Name: glycosylphosphatidylinositol anchor attachment 1
Symbol: GPAA1
Synonyms: lang: en
text: GAA1
lang: en
text: GPI transamidase subunit
lang: en
text: hGAA1
GeneType: Name: gene with protein product
Rare disease: Jervell and Lange-Nielsen syndrome (Orphanet code 90647)
Associated genes:
Name: potassium voltage-gated channel subfamily E regulatory subunit 1
Symbol: KCNE1
Synonyms: lang: en
text: ISK
lang: en
text: IsK
lang: en
text: JLNS2
lang: en
text: Jervell and Lange-Nielsen syndrome 2
lang: en
text: LQT5
lang: en
text: Long QT syndrome 5
lang: en
text: minK
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 1
Symbol: KCNQ1
Synonyms: lang: en
text: JLNS1
lang: en
text: Jervell and Lange-Nielsen syndrome 1
lang: en
text: KCNA8
lang: en
text: KVLQT1
lang: en
text: Kv7.1
lang: en
text: LQT1
GeneType: Name: gene with protein product
Rare disease: Otopalatodigital syndrome type 1 (Orphanet code 90650)
Associated genes:
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: Rare mitochondrial non-syndromic sensorineural deafness (Orphanet code 90641)
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
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol: MT-ND4
Synonyms: lang: en
text: NAD4
lang: en
text: NADH-ubiquinone oxidoreductase chain 4
lang: en
text: ND4
lang: en
text: complex I ND4 subunit
GeneType: Name: gene with protein product
Name: transcription factor B1, mitochondrial
Symbol: TFB1M
Synonyms: lang: en
text: CGI-75
lang: en
text: dimethyladenosine transferase 1, mitochondrial
lang: en
text: mtTFB
GeneType: Name: gene with protein product
Name: tRNA mitochondrial 2-thiouridylase
Symbol: TRMU
Synonyms: lang: en
text: FLJ10140
lang: en
text: MTO2
lang: en
text: MTU1
lang: en
text: mitochondrial tRNA-specific 2-thiouridylase 1
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase I
Symbol: MT-CO1
Synonyms: lang: en
text: COI
lang: en
text: COX1
GeneType: Name: gene with protein product
Name: mitochondrially encoded 12S rRNA
Symbol: MT-RNR1
Synonyms: lang: en
text: 12S
lang: en
text: MOTS-c
lang: en
text: mitochondrial open-reading-frame of the twelve S rRNA type-c
lang: en
text: mitochondrially encoded 12S ribosomal RNA
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-His (CAU/C)
Symbol: MT-TH
Synonyms: lang: en
text: trnH
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ser (UCN) 1
Symbol: MT-TS1
Synonyms: lang: en
text: TRNS1
GeneType: Name: Non-coding RNA
Rare disease: Congenital ptosis (Orphanet code 91411)
Associated genes:
Name: collagen type XXV alpha 1 chain
Symbol: COL25A1
GeneType: Name: gene with protein product
Name: zinc finger homeobox 4
Symbol: ZFHX4
Synonyms: lang: en
text: FLJ20980
lang: en
text: ZFH4
GeneType: Name: gene with protein product
Rare disease: Snowflake vitreoretinal degeneration (Orphanet code 91496)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 13
Symbol: KCNJ13
Synonyms: lang: en
text: Kir1.4
lang: en
text: Kir7.1
lang: en
text: LCA16
GeneType: Name: gene with protein product
Rare disease: Persistent hyperplastic primary vitreous (Orphanet code 91495)
Associated genes:
Name: frizzled class receptor 4
Symbol: FZD4
Synonyms: lang: en
text: CD344
GeneType: Name: gene with protein product
Name: norrin cystine knot growth factor NDP
Symbol: NDP
Synonyms: lang: en
text: norrin
GeneType: Name: gene with protein product
Name: atonal bHLH transcription factor 7
Symbol: ATOH7
Synonyms: lang: en
text: Math5
lang: en
text: bHLHa13
GeneType: Name: gene with protein product
Rare disease: Ring dermoid of cornea (Orphanet code 91481)
Associated genes:
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
Rare disease: Pilomatrixoma (Orphanet code 91414)
Associated genes:
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Rare disease: Isolated congenital sclerocornea (Orphanet code 91490)
Associated genes:
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Rare disease: Isolated congenital megalocornea (Orphanet code 91489)
Associated genes:
Name: chordin like 1
Symbol: CHRDL1
Synonyms: lang: en
text: CHL
lang: en
text: NRLN1
GeneType: Name: gene with protein product
Rare disease: Rieger anomaly (Orphanet code 91483)
Associated genes:
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: 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
Rare disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (Orphanet code 91130)
Associated genes:
Name: solute carrier family 25 member 3
Symbol: SLC25A3
Synonyms: lang: en
text: PTP
lang: en
text: Phosphate carrier protein, mitochondrial
lang: en
text: PiC
lang: en
text: phosphate transport protein
GeneType: Name: gene with protein product
Rare disease: DK1-CDG (Orphanet code 91131)
Associated genes:
Name: dolichol kinase
Symbol: DOLK
Synonyms: lang: en
text: DK1
lang: en
text: KIAA1094
lang: en
text: dolichol kinase 1
GeneType: Name: gene with protein product
Rare disease: Ichthyosis-hypotrichosis syndrome (Orphanet code 91132)
Associated genes:
Name: ST14 transmembrane serine protease matriptase
Symbol: ST14
Synonyms: lang: en
text: CAP3
lang: en
text: HAI
lang: en
text: MT-SP1
lang: en
text: SNC19
lang: en
text: TMPRSS14
lang: en
text: channelactivating protein 3
lang: en
text: epithin
lang: en
text: matriptase
GeneType: Name: gene with protein product
Rare disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Orphanet code 90793)
Associated genes:
Name: cytochrome P450 family 17 subfamily A member 1
Symbol: CYP17A1
Synonyms: lang: en
text: CPT7
lang: en
text: P450C17
lang: en
text: S17AH
lang: en
text: Steroid 17-alpha-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (Orphanet code 90795)
Associated genes:
Name: cytochrome P450 family 11 subfamily B member 1
Symbol: CYP11B1
Synonyms: lang: en
text: CPN1
lang: en
text: FHI
lang: en
text: P450C11
lang: en
text: steroid 11-beta-monooxygenase
GeneType: Name: gene with protein product
Rare disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency (Orphanet code 90796)
Associated genes:
Name: cytochrome b5 type A
Symbol: CYB5A
Synonyms: lang: en
text: MCB5
lang: en
text: Microsomal cytochrome b5
GeneType: Name: gene with protein product
Name: cytochrome P450 family 17 subfamily A member 1
Symbol: CYP17A1
Synonyms: lang: en
text: CPT7
lang: en
text: P450C17
lang: en
text: S17AH
lang: en
text: Steroid 17-alpha-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Partial androgen insensitivity syndrome (Orphanet code 90797)
Associated genes:
Name: androgen receptor
Symbol: AR
Synonyms: lang: en
text: AIS
lang: en
text: HUMARA
lang: en
text: Kennedy disease
lang: en
text: NR3C4
lang: en
text: SMAX1
lang: en
text: testicular feminization
GeneType: Name: gene with protein product
Rare disease: TSH-secreting pituitary adenoma (Orphanet code 91347)
Associated genes:
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
GeneType: Name: gene with protein product
Rare disease: Germinoma of the central nervous system (Orphanet code 91352)
Associated genes:
Name: jumonji domain containing 1C
Symbol: JMJD1C
Synonyms: lang: en
text: DKFZp761F0118
lang: en
text: FLJ14374
lang: en
text: KDM3C
lang: en
text: KIAA1380
GeneType: Name: gene with protein product
Rare disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (Orphanet code 91135)
Associated genes:
Name: gamma-glutamyl carboxylase
Symbol: GGCX
Synonyms: lang: en
text: VKCFD1
lang: en
text: peptidyl-glutamate 4-carboxylase
lang: en
text: vitamin K-dependent gamma-carboxylase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant generalized epidermolysis bullosa simplex, severe form (Orphanet code 79396)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product
Rare disease: Epidermolysis bullosa simplex with mottled pigmentation (Orphanet code 79397)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product
Rare disease: Congenital ichthyosiform erythroderma (Orphanet code 79394)
Associated genes:
Name: ATP binding cassette subfamily A member 12
Symbol: ABCA12
Synonyms: lang: en
text: DKFZP434G232
lang: en
text: LI2
GeneType: Name: gene with protein product
Name: arachidonate 12-lipoxygenase, 12R type
Symbol: ALOX12B
Synonyms: lang: en
text: 12R-LOX
lang: en
text: 12R-lipoxygenase
GeneType: Name: gene with protein product
Name: arachidonate lipoxygenase 3
Symbol: ALOXE3
Synonyms: lang: en
text: E-LOX
lang: en
text: Epidermal lipoxygenase-3
lang: en
text: eLOX3
lang: en
text: hydroperoxide isomerase
GeneType: Name: gene with protein product
Name: transglutaminase 1
Symbol: TGM1
Synonyms: lang: en
text: K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
lang: en
text: LI
lang: en
text: LI1
lang: en
text: TGASE
lang: en
text: TGK
GeneType: Name: gene with protein product
Name: NIPA like domain containing 4
Symbol: NIPAL4
Synonyms: lang: en
text: ICHYN
lang: en
text: NIPA4
lang: en
text: SLC57A6
lang: en
text: ichthyin
GeneType: Name: gene with protein product
Name: patatin like phospholipase domain containing 1
Symbol: PNPLA1
Synonyms: lang: en
text: FLJ38755
lang: en
text: dJ50J22.1
GeneType: Name: gene with protein product
Name: ceramide synthase 3
Symbol: CERS3
Synonyms: lang: en
text: MGC27091
GeneType: Name: gene with protein product
Name: sulfotransferase family 2B member 1
Symbol: SULT2B1
Synonyms: lang: en
text: HSST2
GeneType: Name: gene with protein product
Name: short chain dehydrogenase/reductase family 9C member 7
Symbol: SDR9C7
Synonyms: lang: en
text: RDHS
lang: en
text: SDR-O
GeneType: Name: gene with protein product
Rare disease: Keratoderma hereditarium mutilans with ichthyosis (Orphanet code 79395)
Associated genes:
Name: loricrin cornified envelope precursor protein
Symbol: LORICRIN
GeneType: Name: gene with protein product
Rare disease: Woolly hair nevus (Orphanet code 79414)
Associated genes:
Name: HRas proto-oncogene, GTPase
Symbol: HRAS
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form (Orphanet code 79399)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product
Rare disease: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (Orphanet code 79401)
Associated genes:
Name: plectin
Symbol: PLEC
Synonyms: lang: en
text: PCN
lang: en
text: PLTN
GeneType: Name: gene with protein product
Rare disease: Localized epidermolysis bullosa simplex (Orphanet code 79400)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product
Rare disease: Junctional epidermolysis bullosa with pyloric atresia (Orphanet code 79403)
Associated genes:
Name: integrin subunit alpha 6
Symbol: ITGA6
Synonyms: lang: en
text: CD49f
lang: en
text: ITGA6A
lang: en
text: ITGA6B
lang: en
text: VLA-6
lang: en
text: very late activation protein 6
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: Intermediate generalized junctional epidermolysis bullosa (Orphanet code 79402)
Associated genes:
Name: collagen type XVII alpha 1 chain
Symbol: COL17A1
Synonyms: lang: en
text: BP180
GeneType: Name: gene with protein product
Name: integrin subunit beta 4
Symbol: ITGB4
Synonyms: lang: en
text: CD104
GeneType: Name: gene with protein product
Name: laminin subunit alpha 3
Symbol: LAMA3
Synonyms: lang: en
text: BM600-150kDa
lang: en
text: epiligrin
lang: en
text: kalinin-165kDa
lang: en
text: nicein-150kDa
GeneType: Name: gene with protein product
Name: laminin subunit beta 3
Symbol: LAMB3
Synonyms: lang: en
text: BM600-125kDa
lang: en
text: kalinin-140kDa
lang: en
text: nicein-125kDa
GeneType: Name: gene with protein product
Name: laminin subunit gamma 2
Symbol: LAMC2
Synonyms: lang: en
text: BM600-100kDa
lang: en
text: kalinin-105kDa
lang: en
text: nicein-100kDa
GeneType: Name: gene with protein product
Rare disease: Severe generalized junctional epidermolysis bullosa (Orphanet code 79404)
Associated genes:
Name: laminin subunit beta 3
Symbol: LAMB3
Synonyms: lang: en
text: BM600-125kDa
lang: en
text: kalinin-140kDa
lang: en
text: nicein-125kDa
GeneType: Name: gene with protein product
Name: laminin subunit gamma 2
Symbol: LAMC2
Synonyms: lang: en
text: BM600-100kDa
lang: en
text: kalinin-105kDa
lang: en
text: nicein-100kDa
GeneType: Name: gene with protein product
Name: laminin subunit alpha 3
Symbol: LAMA3
Synonyms: lang: en
text: BM600-150kDa
lang: en
text: epiligrin
lang: en
text: kalinin-165kDa
lang: en
text: nicein-150kDa
GeneType: Name: gene with protein product
Rare disease: Late-onset junctional epidermolysis bullosa (Orphanet code 79406)
Associated genes:
Name: collagen type XVII alpha 1 chain
Symbol: COL17A1
Synonyms: lang: en
text: BP180
GeneType: Name: gene with protein product
Rare disease: Recessive dystrophic epidermolysis bullosa inversa (Orphanet code 79409)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (Orphanet code 79408)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 1
Symbol: MMP1
Synonyms: lang: en
text: interstitial collagenase
GeneType: Name: gene with protein product
Rare disease: Self-improving dystrophic epidermolysis bullosa (Orphanet code 79411)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Localized dystrophic epidermolysis bullosa, pretibial form (Orphanet code 79410)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Milroy disease (Orphanet code 79452)
Associated genes:
Name: angiopoietin 2
Symbol: ANGPT2
Synonyms: lang: en
text: Ang2
GeneType: Name: gene with protein product
Name: fms related receptor tyrosine kinase 4
Symbol: FLT4
Synonyms: lang: en
text: Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4
lang: en
text: PCL
lang: en
text: VEGF receptor-3
lang: en
text: VEGFR-3
lang: en
text: VEGFR3
lang: en
text: primary congenital lymphedema
lang: en
text: vascular endothelial growth factor receptor 3
GeneType: Name: gene with protein product
Name: piezo type mechanosensitive ion channel component 1 (Er blood group)
Symbol: PIEZO1
Synonyms: lang: en
text: KIAA0233
GeneType: Name: gene with protein product
Name: gap junction protein gamma 2
Symbol: GJC2
Synonyms: lang: en
text: CX46.6
lang: en
text: CX47
lang: en
text: SPG44
lang: en
text: connexin 47
GeneType: Name: gene with protein product
Rare disease: Cutaneous mastocytoma (Orphanet code 79455)
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: Oculocutaneous albinism type 4 (Orphanet code 79435)
Associated genes:
Name: solute carrier family 45 member 2
Symbol: SLC45A2
Synonyms: lang: en
text: AIM-1
lang: en
text: OCA4
lang: en
text: antigen in melanoma 1
lang: en
text: oculocutaneous albinism type 4
GeneType: Name: gene with protein product
Rare disease: Oculocutaneous albinism type 1B (Orphanet code 79434)
Associated genes:
Name: tyrosinase
Symbol: TYR
Synonyms: lang: en
text: OCA1
lang: en
text: OCA1A
lang: en
text: OCAIA
lang: en
text: oculocutaneous albinism IA
GeneType: Name: gene with protein product
Rare disease: Oculocutaneous albinism type 3 (Orphanet code 79433)
Associated genes:
Name: tyrosinase related protein 1
Symbol: TYRP1
Synonyms: lang: en
text: CATB
lang: en
text: GP75
lang: en
text: OCA3
lang: en
text: TRP
lang: en
text: b-PROTEIN
GeneType: Name: gene with protein product