TaoMedAI/RareMedData huggingface dataset:
Rare disease: Spinocerebellar ataxia type 30 (Orphanet code 211017)
Associated genes:
Name: spinocerebellar ataxia 30
Symbol: SCA30
GeneType: Name: Disorder-associated locus
Rare disease: Kaposiform hemangioendothelioma (Orphanet code 2122)
Associated genes:
Name: G protein subunit alpha 14
Symbol: GNA14
GeneType: Name: gene with protein product
Rare disease: Infantile myofibromatosis (Orphanet code 2591)
Associated genes:
Name: notch receptor 3
Symbol: NOTCH3
Synonyms: lang: en
text: CASIL
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
Rare disease: Propionic acidemia (Orphanet code 35)
Associated genes:
Name: propionyl-CoA carboxylase subunit alpha
Symbol: PCCA
GeneType: Name: gene with protein product
Name: propionyl-CoA carboxylase subunit beta
Symbol: PCCB
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA-related progressive external ophthalmoplegia (Orphanet code 663)
Associated genes:
Name: mitochondrially encoded tRNA-Ser (UCN) 1
Symbol: MT-TS1
Synonyms: lang: en
text: TRNS1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Leu (CUN) 2
Symbol: MT-TL2
Synonyms: lang: en
text: TRNL2
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Asn (AAU/C)
Symbol: MT-TN
Synonyms: lang: en
text: trnN
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Rare disease: Denys-Drash syndrome (Orphanet code 220)
Associated genes:
Name: WT1 transcription factor
Symbol: WT1
Synonyms: lang: en
text: AWT1
lang: en
text: NPHS4
lang: en
text: WAGR
lang: en
text: WIT-2
lang: en
text: WT-1
GeneType: Name: gene with protein product
Rare disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet code 5)
Associated genes:
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Symbol: HADHA
Synonyms: lang: en
text: GBP
lang: en
text: LCEH
lang: en
text: LCHAD
lang: en
text: MTPA
lang: en
text: gastrin-binding protein
lang: en
text: long-chain 2-enoyl-CoA hydratase
lang: en
text: long-chain-3-hydroxyacyl-CoA dehydrogenase
lang: en
text: mitochondrial trifunctional protein, alpha subunit
GeneType: Name: gene with protein product
Rare disease: Glutaryl-CoA dehydrogenase deficiency (Orphanet code 25)
Associated genes:
Name: glutaryl-CoA dehydrogenase
Symbol: GCDH
Synonyms: lang: en
text: ACAD5
lang: en
text: GCD
GeneType: Name: gene with protein product
Rare disease: Familial melanoma (Orphanet code 618)
Associated genes:
Name: cyclin dependent kinase 4
Symbol: CDK4
Synonyms: lang: en
text: PSK-J3
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 2A
Symbol: CDKN2A
Synonyms: lang: en
text: ARF
lang: en
text: CAI2
lang: en
text: CDK4I
lang: en
text: CDKN2A/ARF Intron 2 lncRNA
lang: en
text: CMM2
lang: en
text: INK4
lang: en
text: INK4a
lang: en
text: MTS1
lang: en
text: P16-INK4A
lang: en
text: cyclin-dependent kinase 4 inhibitor A
lang: en
text: inhibitor of cdk4 A
lang: en
text: multiple tumour suppressor 1
lang: en
text: p14
lang: en
text: p14 alternate open reading frame
lang: en
text: p14ARF
lang: en
text: p16
lang: en
text: p16INK4a
lang: en
text: p19
lang: en
text: p19 alternate open reading frame
lang: en
text: p19Arf
GeneType: Name: gene with protein product
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: melanocortin 1 receptor
Symbol: MC1R
Synonyms: lang: en
text: MSH-R
lang: en
text: alpha melanocyte stimulating hormone receptor
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Name: cyclin dependent kinase inhibitor 2B
Symbol: CDKN2B
Synonyms: lang: en
text: CDK4I
lang: en
text: INK4B
lang: en
text: MTS2
lang: en
text: P15
lang: en
text: TP15
lang: en
text: p15INK4b
GeneType: Name: gene with protein product
Name: O-6-methylguanine-DNA methyltransferase
Symbol: MGMT
Synonyms: lang: en
text: methylated-DNA--protein-cysteine methyltransferase
GeneType: Name: gene with protein product
Name: protection of telomeres 1
Symbol: POT1
Synonyms: lang: en
text: DKFZp586D211
lang: en
text: hPot1
GeneType: Name: gene with protein product
Name: ACD shelterin complex subunit and telomerase recruitment factor
Symbol: ACD
Synonyms: lang: en
text: POT1 and TIN2 organizing protein
lang: en
text: Pip1
lang: en
text: Ptop
lang: en
text: TIN2 interacting protein 1
lang: en
text: Tint1
lang: en
text: Tpp1
GeneType: Name: gene with protein product
Name: TERF2 interacting protein
Symbol: TERF2IP
Synonyms: lang: en
text: RAP1
GeneType: Name: gene with protein product
Rare disease: Smith-Lemli-Opitz syndrome (Orphanet code 818)
Associated genes:
Name: 7-dehydrocholesterol reductase
Symbol: DHCR7
GeneType: Name: gene with protein product
Rare disease: Adenocarcinoma of ovary (Orphanet code 213504)
Associated genes:
Name: inhibin subunit beta A
Symbol: INHBA
GeneType: Name: gene with protein product
Rare disease: Cartilage-hair hypoplasia (Orphanet code 175)
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
Rare disease: Medium chain acyl-CoA dehydrogenase deficiency (Orphanet code 42)
Associated genes:
Name: acyl-CoA dehydrogenase medium chain
Symbol: ACADM
Synonyms: lang: en
text: ACAD1
lang: en
text: MCAD
lang: en
text: MCADH
lang: en
text: medium-chain acyl-CoA dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Gamma-aminobutyric acid transaminase deficiency (Orphanet code 2066)
Associated genes:
Name: 4-aminobutyrate aminotransferase
Symbol: ABAT
Synonyms: lang: en
text: 4-aminobutyrate transaminase
lang: en
text: GABA transaminase
lang: en
text: GABA-T
lang: en
text: GABAT
lang: en
text: gamma-aminobutyrate aminotransferase
GeneType: Name: gene with protein product
Rare disease: Bifunctional enzyme deficiency (Orphanet code 300)
Associated genes:
Name: hydroxysteroid 17-beta dehydrogenase 4
Symbol: HSD17B4
Synonyms: lang: en
text: 17-beta-HSD IV
lang: en
text: 17-beta-hydroxysteroid dehydrogenase 4
lang: en
text: 17beta-estradiol dehydrogenase type IV
lang: en
text: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
lang: en
text: D-3-hydroxyacyl-CoA dehydratase
lang: en
text: D-bifunctional protein, peroxisomal
lang: en
text: DBP
lang: en
text: MFE-2
lang: en
text: SDR8C1
lang: en
text: beta-hydroxyacyl dehydrogenase
lang: en
text: beta-keto-reductase
lang: en
text: peroxisomal multifunctional protein 2
lang: en
text: short chain dehydrogenase/reductase family 8C, member 1
GeneType: Name: gene with protein product
Name: enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Symbol: EHHADH
GeneType: Name: gene with protein product
Rare disease: Endometrial stromal sarcoma (Orphanet code 213711)
Associated genes:
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Symbol: YWHAE
Synonyms: lang: en
text: 14-3-3 epsilon
lang: en
text: FLJ45465
GeneType: Name: gene with protein product
Name: JAZF zinc finger 1
Symbol: JAZF1
Synonyms: lang: en
text: DKFZp761K2222
lang: en
text: TIP27
lang: en
text: ZNF802
GeneType: Name: gene with protein product
Name: SUZ12 polycomb repressive complex 2 subunit
Symbol: SUZ12
Synonyms: lang: en
text: CHET9
lang: en
text: JJAZ1
lang: en
text: KIAA0160
GeneType: Name: gene with protein product
Name: NUT family member 2A
Symbol: NUTM2A
GeneType: Name: gene with protein product
Name: NUT family member 2B
Symbol: NUTM2B
Synonyms: lang: en
text: bA119F19.1
GeneType: Name: gene with protein product
Rare disease: Common variable immunodeficiency (Orphanet code 1572)
Associated genes:
Name: CD19 molecule
Symbol: CD19
GeneType: Name: gene with protein product
Name: inducible T cell costimulator
Symbol: ICOS
Synonyms: lang: en
text: AILIM
lang: en
text: CD278
lang: en
text: activation-inducible lymphocyte immunomediatory molecule
GeneType: Name: gene with protein product
Name: complement C3d receptor 2
Symbol: CR2
Synonyms: lang: en
text: C3DR
lang: en
text: CD21
lang: en
text: Epstein-Barr virus receptor
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 13C
Symbol: TNFRSF13C
Synonyms: lang: en
text: BAFFR
lang: en
text: CD268
GeneType: Name: gene with protein product
Name: membrane spanning 4-domains A1
Symbol: MS4A1
Synonyms: lang: en
text: B1
lang: en
text: Bp35
lang: en
text: FMC7
lang: en
text: MS4A2
GeneType: Name: gene with protein product
Name: CD81 molecule
Symbol: CD81
Synonyms: lang: en
text: S5.7
lang: en
text: TAPA-1
lang: en
text: TSPAN28
lang: en
text: Tetraspanin-28
GeneType: Name: gene with protein product
Name: protein kinase C delta
Symbol: PRKCD
GeneType: Name: gene with protein product
Name: TNF superfamily member 12
Symbol: TNFSF12
Synonyms: lang: en
text: APO3L
lang: en
text: DR3LG
lang: en
text: TWEAK
GeneType: Name: gene with protein product
Name: TNF superfamily member 12
Symbol: TNFSF12
Synonyms: lang: en
text: APO3L
lang: en
text: DR3LG
lang: en
text: TWEAK
GeneType: Name: gene with protein product
Name: nuclear factor kappa B subunit 1
Symbol: NFKB1
Synonyms: lang: en
text: KBF1
lang: en
text: NF-kB1
lang: en
text: NF-kappaB
lang: en
text: NFKB-p50
lang: en
text: NFkappaB
lang: en
text: Nuclear factor NF-kappa-B p105 subunit
lang: en
text: p105
lang: en
text: p50
GeneType: Name: gene with protein product
Name: nuclear factor kappa B subunit 2
Symbol: NFKB2
Synonyms: lang: en
text: LYT-10
lang: en
text: NF-kB2
lang: en
text: p105
lang: en
text: p49/p100
lang: en
text: p52
GeneType: Name: gene with protein product
Name: interferon regulatory factor 2 binding protein 2
Symbol: IRF2BP2
Synonyms: lang: en
text: IRF-2BP2
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 13B
Symbol: TNFRSF13B
Synonyms: lang: en
text: CD267
lang: en
text: IGAD2
lang: en
text: TACI
GeneType: Name: gene with protein product
Rare disease: Autoimmune lymphoproliferative syndrome (Orphanet code 3261)
Associated genes:
Name: caspase 10
Symbol: CASP10
Synonyms: lang: en
text: FAS-associated death domain protein interleukin-1B-converting enzyme 2
lang: en
text: FLICE-2
lang: en
text: MCH4
GeneType: Name: gene with protein product
Name: Fas cell surface death receptor
Symbol: FAS
Synonyms: lang: en
text: APO-1
lang: en
text: CD95
lang: en
text: TNF receptor superfamily member 6
GeneType: Name: gene with protein product
Name: Fas cell surface death receptor
Symbol: FAS
Synonyms: lang: en
text: APO-1
lang: en
text: CD95
lang: en
text: TNF receptor superfamily member 6
GeneType: Name: gene with protein product
Name: Fas ligand
Symbol: FASLG
Synonyms: lang: en
text: CD178
lang: en
text: FasL
GeneType: Name: gene with protein product
Rare disease: Perlman syndrome (Orphanet code 2849)
Associated genes:
Name: DIS3 like 3'-5' exoribonuclease 2
Symbol: DIS3L2
Synonyms: lang: en
text: FLJ36974
lang: en
text: MGC42174
GeneType: Name: gene with protein product
Rare disease: Autoimmune pulmonary alveolar proteinosis (Orphanet code 747)
Associated genes:
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Rare disease: Musculocontractural Ehlers-Danlos syndrome (Orphanet code 2953)
Associated genes:
Name: carbohydrate sulfotransferase 14
Symbol: CHST14
Synonyms: lang: en
text: D4ST-1
lang: en
text: HD4ST
GeneType: Name: gene with protein product
Name: dermatan sulfate epimerase
Symbol: DSE
Synonyms: lang: en
text: DS-Epi1
lang: en
text: DSEPI
GeneType: Name: gene with protein product
Rare disease: Axenfeld-Rieger syndrome (Orphanet code 782)
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: 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: Isolated congenitally uncorrected transposition of the great arteries (Orphanet code 216718)
Associated genes:
Name: Zic family member 3
Symbol: ZIC3
Synonyms: lang: en
text: HTX
lang: en
text: ZNF203
GeneType: Name: gene with protein product
Name: growth differentiation factor 1
Symbol: GDF1
GeneType: Name: gene with protein product
Name: mediator complex subunit 13L
Symbol: MED13L
Synonyms: lang: en
text: KIAA1025
lang: en
text: TRAP240L
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: Congenitally uncorrected transposition of the great arteries with cardiac malformation (Orphanet code 216729)
Associated genes:
Name: cryptic, EGF-CFC family member 1
Symbol: CFC1
Synonyms: lang: en
text: CRYPTIC
GeneType: Name: gene with protein product
Rare disease: Tyrosinemia type 1 (Orphanet code 882)
Associated genes:
Name: fumarylacetoacetate hydrolase
Symbol: FAH
Synonyms: lang: en
text: fumarylacetoacetase
GeneType: Name: gene with protein product
Rare disease: Osteogenesis imperfecta type 1 (Orphanet code 216796)
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: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: collagen type I alpha 2 chain
Symbol: COL1A2
Synonyms: lang: en
text: alpha 2(I)-collagen
lang: en
text: alpha-2 collagen type I
lang: en
text: collagen I, alpha-2 polypeptide
lang: en
text: collagen of skin, tendon and bone, alpha-2 chain
lang: en
text: type I procollagen
GeneType: Name: gene with protein product
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Rare disease: Osteogenesis imperfecta type 2 (Orphanet code 216804)
Associated genes:
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: collagen type I alpha 2 chain
Symbol: COL1A2
Synonyms: lang: en
text: alpha 2(I)-collagen
lang: en
text: alpha-2 collagen type I
lang: en
text: collagen I, alpha-2 polypeptide
lang: en
text: collagen of skin, tendon and bone, alpha-2 chain
lang: en
text: type I procollagen
GeneType: Name: gene with protein product
Name: prolyl 3-hydroxylase 1
Symbol: P3H1
Synonyms: lang: en
text: GROS1
lang: en
text: LEPRECAN
lang: en
text: MGC117314
lang: en
text: growth suppressor 1
lang: en
text: procollagen-proline 3-dioxygenase
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
Name: peptidylprolyl isomerase B
Symbol: PPIB
Synonyms: lang: en
text: B
lang: en
text: CYP-S1
lang: en
text: CYPB
lang: en
text: OI9
lang: en
text: PPIase
lang: en
text: S-cyclophilin
lang: en
text: SCYLP
lang: en
text: cyclophilin B
lang: en
text: peptidyl-prolyl cis-trans isomerase B
lang: en
text: rotamase B
GeneType: Name: gene with protein product
Name: mesoderm development LRP chaperone
Symbol: MESD
Synonyms: lang: en
text: BOCA
lang: en
text: KIAA0081
GeneType: Name: gene with protein product
Rare disease: Osteogenesis imperfecta type 3 (Orphanet code 216812)
Associated genes:
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: collagen type I alpha 2 chain
Symbol: COL1A2
Synonyms: lang: en
text: alpha 2(I)-collagen
lang: en
text: alpha-2 collagen type I
lang: en
text: collagen I, alpha-2 polypeptide
lang: en
text: collagen of skin, tendon and bone, alpha-2 chain
lang: en
text: type I procollagen
GeneType: Name: gene with protein product
Name: prolyl 3-hydroxylase 1
Symbol: P3H1
Synonyms: lang: en
text: GROS1
lang: en
text: LEPRECAN
lang: en
text: MGC117314
lang: en
text: growth suppressor 1
lang: en
text: procollagen-proline 3-dioxygenase
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
Name: cAMP responsive element binding protein 3 like 1
Symbol: CREB3L1
Synonyms: lang: en
text: BBF-2 homolog (drosophila)
lang: en
text: OASIS
lang: en
text: old astrocyte specifically induced substance
GeneType: Name: gene with protein product
Name: peptidylprolyl isomerase B
Symbol: PPIB
Synonyms: lang: en
text: B
lang: en
text: CYP-S1
lang: en
text: CYPB
lang: en
text: OI9
lang: en
text: PPIase
lang: en
text: S-cyclophilin
lang: en
text: SCYLP
lang: en
text: cyclophilin B
lang: en
text: peptidyl-prolyl cis-trans isomerase B
lang: en
text: rotamase B
GeneType: Name: gene with protein product
Name: serpin family H member 1
Symbol: SERPINH1
Synonyms: lang: en
text: HSP47
lang: en
text: collagen binding protein 1
lang: en
text: colligen
lang: en
text: colligin
lang: en
text: heat shock protein 47
GeneType: Name: gene with protein product
Name: FKBP prolyl isomerase 10
Symbol: FKBP10
Synonyms: lang: en
text: FKBP6
lang: en
text: FKBP65
lang: en
text: FLJ20683
lang: en
text: FLJ22041
lang: en
text: FLJ23833
lang: en
text: hFKBP65
GeneType: Name: gene with protein product
Name: serpin family F member 1
Symbol: SERPINF1
Synonyms: lang: en
text: EPC-1
lang: en
text: PIG35
lang: en
text: alpha-2 antiplasmin
lang: en
text: pigment epithelium-derived factor
lang: en
text: proliferation-inducing protein 35
GeneType: Name: gene with protein product
Name: Wnt family member 1
Symbol: WNT1
GeneType: Name: gene with protein product
Name: terminal nucleotidyltransferase 5A
Symbol: TENT5A
Synonyms: lang: en
text: FLJ20037
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 1
Symbol: BMP1
Synonyms: lang: en
text: BMP-1
lang: en
text: tolloid-like
GeneType: Name: gene with protein product
Rare disease: Osteogenesis imperfecta type 4 (Orphanet code 216820)
Associated genes:
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Name: transmembrane protein 38B
Symbol: TMEM38B
Synonyms: lang: en
text: D4Ertd89e
lang: en
text: FLJ10493
lang: en
text: TRIC-B
lang: en
text: bA219P18.1
GeneType: Name: gene with protein product
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: collagen type I alpha 2 chain
Symbol: COL1A2
Synonyms: lang: en
text: alpha 2(I)-collagen
lang: en
text: alpha-2 collagen type I
lang: en
text: collagen I, alpha-2 polypeptide
lang: en
text: collagen of skin, tendon and bone, alpha-2 chain
lang: en
text: type I procollagen
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
Name: peptidylprolyl isomerase B
Symbol: PPIB
Synonyms: lang: en
text: B
lang: en
text: CYP-S1
lang: en
text: CYPB
lang: en
text: OI9
lang: en
text: PPIase
lang: en
text: S-cyclophilin
lang: en
text: SCYLP
lang: en
text: cyclophilin B
lang: en
text: peptidyl-prolyl cis-trans isomerase B
lang: en
text: rotamase B
GeneType: Name: gene with protein product
Name: FKBP prolyl isomerase 10
Symbol: FKBP10
Synonyms: lang: en
text: FKBP6
lang: en
text: FKBP65
lang: en
text: FLJ20683
lang: en
text: FLJ22041
lang: en
text: FLJ23833
lang: en
text: hFKBP65
GeneType: Name: gene with protein product
Name: Sp7 transcription factor
Symbol: SP7
Synonyms: lang: en
text: OSX
lang: en
text: osterix
GeneType: Name: gene with protein product
Name: serpin family F member 1
Symbol: SERPINF1
Synonyms: lang: en
text: EPC-1
lang: en
text: PIG35
lang: en
text: alpha-2 antiplasmin
lang: en
text: pigment epithelium-derived factor
lang: en
text: proliferation-inducing protein 35
GeneType: Name: gene with protein product
Name: Wnt family member 1
Symbol: WNT1
GeneType: Name: gene with protein product
Name: secreted protein acidic and cysteine rich
Symbol: SPARC
Synonyms: lang: en
text: BM-40
lang: en
text: ONT
lang: en
text: cysteine-rich protein
lang: en
text: secreted protein acidic and rich in cysteine
GeneType: Name: gene with protein product
Rare disease: Osteogenesis imperfecta type 5 (Orphanet code 216828)
Associated genes:
Name: interferon induced transmembrane protein 5
Symbol: IFITM5
Synonyms: lang: en
text: BRIL
lang: en
text: DSPA1
lang: en
text: Fragilis4
lang: en
text: Hrmp1
lang: en
text: dispanin subfamily A member 1
lang: en
text: fragilis4
GeneType: Name: gene with protein product
Rare disease: CHIME syndrome (Orphanet code 3474)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class L
Symbol: PIGL
Synonyms: lang: en
text: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
lang: en
text: N-acetylglucosaminylphosphatidylinositol deacetylase
lang: en
text: PIG-L
GeneType: Name: gene with protein product
Rare disease: Classic pantothenate kinase-associated neurodegeneration (Orphanet code 216866)
Associated genes:
Name: pantothenate kinase 2
Symbol: PANK2
Synonyms: lang: en
text: FLJ11729
lang: en
text: HARP
lang: en
text: HSS
lang: en
text: Hallervorden-Spatz syndrome
lang: en
text: PKAN
lang: en
text: pantothenate kinase-associated neurodegeneration
GeneType: Name: gene with protein product
Rare disease: Atypical pantothenate kinase-associated neurodegeneration (Orphanet code 216873)
Associated genes:
Name: pantothenate kinase 2
Symbol: PANK2
Synonyms: lang: en
text: FLJ11729
lang: en
text: HARP
lang: en
text: HSS
lang: en
text: Hallervorden-Spatz syndrome
lang: en
text: PKAN
lang: en
text: pantothenate kinase-associated neurodegeneration
GeneType: Name: gene with protein product