TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital stromal corneal dystrophy (Orphanet code 101068)
Associated genes:
Name: decorin
Symbol: DCN
Synonyms: lang: en
text: DSPG2
lang: en
text: SLRR1B
lang: en
text: decorin proteoglycan
GeneType: Name: gene with protein product
Rare disease: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency (Orphanet code 675767)
Associated genes:
Name: signal recognition particle 54
Symbol: SRP54
GeneType: Name: gene with protein product
Rare disease: Bilateral frontoparietal polymicrogyria (Orphanet code 101070)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: adhesion G protein-coupled receptor G1
Symbol: ADGRG1
Synonyms: lang: en
text: TM7LN4
lang: en
text: TM7XN1
GeneType: Name: gene with protein product
Rare disease: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome (Orphanet code 675628)
Associated genes:
Name: toll like receptor 8
Symbol: TLR8
GeneType: Name: gene with protein product
Rare disease: Situs inversus totalis (Orphanet code 101063)
Associated genes:
Name: ankyrin repeat and sterile alpha motif domain containing 3
Symbol: ANKS3
Synonyms: lang: en
text: FLJ32345
lang: en
text: FLJ32767
lang: en
text: KIAA1977
GeneType: Name: gene with protein product
Name: NME/NM23 family member 7
Symbol: NME7
Synonyms: lang: en
text: CFAP67
lang: en
text: FLJ37194
lang: en
text: NM23-H7
lang: en
text: cilia and flagella associated protein 67
GeneType: Name: gene with protein product
Name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Symbol: CITED2
Synonyms: lang: en
text: MRG1
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 53
Symbol: CFAP53
Synonyms: lang: en
text: FLJ32743
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 52
Symbol: CFAP52
Synonyms: lang: en
text: FLJ37528
lang: en
text: WD40-repeat protein upregulated in HCC
lang: en
text: WDRPUH
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 21
Symbol: MMP21
GeneType: Name: gene with protein product
Name: polycystin 1 like 1, transient receptor potential channel interacting
Symbol: PKD1L1
Synonyms: lang: en
text: PRO19563
lang: en
text: polycystin-1L1
GeneType: Name: gene with protein product
Name: dynein axonemal heavy chain 9
Symbol: DNAH9
Synonyms: lang: en
text: DNAL1
lang: en
text: DYH9
lang: en
text: Dnahc9
lang: en
text: HL-20
lang: en
text: HL20
lang: en
text: KIAA0357
GeneType: Name: gene with protein product
Name: ciliated left-right organizer metallopeptidase
Symbol: CIROP
GeneType: Name: gene with protein product
Rare disease: Breast implant-associated anaplastic large cell lymphoma (Orphanet code 667662)
Associated genes:
Name: Janus kinase 1
Symbol: JAK1
Synonyms: lang: en
text: JAK1A
lang: en
text: JTK3
GeneType: Name: gene with protein product
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Rare disease: Cleft hard palate (Orphanet code 101023)
Associated genes:
Name: grainyhead like transcription factor 3
Symbol: GRHL3
Synonyms: lang: en
text: SOM
lang: en
text: sister-of-mammalian grainyhead
GeneType: Name: gene with protein product
Name: ubiquitin B
Symbol: UBB
Synonyms: lang: en
text: FLJ25987
lang: en
text: MGC8385
lang: en
text: polyubiquitin B
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 29 (Orphanet code 101009)
Associated genes:
Name: spastic paraplegia 29 (autosomal dominant)
Symbol: SPG29
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal spastic paraplegia type 30 (Orphanet code 101010)
Associated genes:
Name: kinesin family member 1A
Symbol: KIF1A
Synonyms: lang: en
text: UNC104
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 31 (Orphanet code 101011)
Associated genes:
Name: receptor accessory protein 1
Symbol: REEP1
Synonyms: lang: en
text: FLJ13110
lang: en
text: SPG31
lang: en
text: Yip2a
lang: en
text: receptor expression enhancing protein 1
GeneType: Name: gene with protein product
Rare disease: Actinomyopathy-associated syndromic thrombocytopenia (Orphanet code 674653)
Associated genes:
Name: actin beta
Symbol: ACTB
Synonyms: lang: en
text: ß-actin
GeneType: Name: gene with protein product
Rare disease: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency (Orphanet code 674762)
Associated genes:
Name: TNF alpha induced protein 3
Symbol: TNFAIP3
Synonyms: lang: en
text: A20
lang: en
text: OTUD7C
GeneType: Name: gene with protein product
Rare disease: Female restricted epilepsy with intellectual disability (Orphanet code 101039)
Associated genes:
Name: protocadherin 19
Symbol: PCDH19
Synonyms: lang: en
text: EIEE9
lang: en
text: KIAA1313
GeneType: Name: gene with protein product
Rare disease: Transaldolase deficiency (Orphanet code 101028)
Associated genes:
Name: transaldolase 1
Symbol: TALDO1
GeneType: Name: gene with protein product
Rare disease: Pseudomyogenic hemangioendothelioma (Orphanet code 673556)
Associated genes:
Name: FosB proto-oncogene, AP-1 transcription factor subunit
Symbol: FOSB
GeneType: Name: gene with protein product
Name: actin beta
Symbol: ACTB
Synonyms: lang: en
text: ß-actin
GeneType: Name: gene with protein product
Name: WW domain containing transcription regulator 1
Symbol: WWTR1
Synonyms: lang: en
text: DKFZp586I1419
lang: en
text: TAZ
lang: en
text: transcriptional coactivator with PDZ-binding motif
GeneType: Name: gene with protein product
Name: serpin family E member 1
Symbol: SERPINE1
Synonyms: lang: en
text: PAI
lang: en
text: plasminogen activator inhibitor, type I
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 3 (Orphanet code 100984)
Associated genes:
Name: atlastin GTPase 1
Symbol: ATL1
Synonyms: lang: en
text: AD-FSP
lang: en
text: FSP1
lang: en
text: atlastin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 10 (Orphanet code 100991)
Associated genes:
Name: kinesin family member 5A
Symbol: KIF5A
Synonyms: lang: en
text: D12S1889
lang: en
text: MY050
lang: en
text: NKHC
lang: en
text: neuron-specific kinesin heavy chain
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 8 (Orphanet code 100989)
Associated genes:
Name: WASH complex subunit 5
Symbol: WASHC5
Synonyms: lang: en
text: strumpellin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 6 (Orphanet code 100988)
Associated genes:
Name: NIPA magnesium transporter 1
Symbol: NIPA1
Synonyms: lang: en
text: MGC35570
lang: en
text: SLC57A1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 5A (Orphanet code 100986)
Associated genes:
Name: cytochrome P450 family 7 subfamily B member 1
Symbol: CYP7B1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 4 (Orphanet code 100985)
Associated genes:
Name: spastin
Symbol: SPAST
Synonyms: lang: en
text: ADPSP
lang: en
text: FSP2
lang: en
text: KIAA1083
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 19 (Orphanet code 100999)
Associated genes:
Name: spastic paraplegia 19 (autosomal dominant)
Symbol: SPG19
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 20 (Orphanet code 101000)
Associated genes:
Name: spartin
Symbol: SPART
Synonyms: lang: en
text: KIAA0610
lang: en
text: TAHCCP1
GeneType: Name: gene with protein product
Rare disease: X-linked spastic paraplegia type 16 (Orphanet code 100997)
Associated genes:
Name: spastic paraplegia 16 (complicated, X-linked recessive)
Symbol: SPG16
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal dominant spastic paraplegia type 17 (Orphanet code 100998)
Associated genes:
Name: BSCL2 lipid droplet biogenesis associated, seipin
Symbol: BSCL2
Synonyms: lang: en
text: seipin
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 14 (Orphanet code 100995)
Associated genes:
Name: spastic paraplegia 14 (autosomal recessive)
Symbol: SPG14
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 15 (Orphanet code 100996)
Associated genes:
Name: zinc finger FYVE-type containing 26
Symbol: ZFYVE26
Synonyms: lang: en
text: FYVE-CENT
lang: en
text: KIAA0321
lang: en
text: spastizin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 12 (Orphanet code 100993)
Associated genes:
Name: ubiquitin associated protein 1
Symbol: UBAP1
GeneType: Name: gene with protein product
Name: reticulon 2
Symbol: RTN2
Synonyms: lang: en
text: NSP-like protein 1
lang: en
text: NSP2
lang: en
text: NSPL1
lang: en
text: Neuroendocrine-specific protein-like 1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 13 (Orphanet code 100994)
Associated genes:
Name: heat shock protein family D (Hsp60) member 1
Symbol: HSPD1
Synonyms: lang: en
text: GROEL
lang: en
text: GroEL
lang: en
text: HSP60
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 27 (Orphanet code 101007)
Associated genes:
Name: spastic paraplegia 27 (autosomal recessive)
Symbol: SPG27
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 28 (Orphanet code 101008)
Associated genes:
Name: DDHD domain containing 1
Symbol: DDHD1
Synonyms: lang: en
text: KIAA1705
lang: en
text: PA-PLA1
lang: en
text: PAPLA1
lang: en
text: iPLA1a
lang: en
text: iPLA1alpha
lang: en
text: intracellular phospholipase A1 alpha
lang: en
text: phosphatidic acid-preferring phospholipase A1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 25 (Orphanet code 101005)
Associated genes:
Name: spastic paraplegia 25 (autosomal recessive, with disc herniation)
Symbol: SPG25
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 26 (Orphanet code 101006)
Associated genes:
Name: beta-1,4-N-acetyl-galactosaminyltransferase 1
Symbol: B4GALNT1
Synonyms: lang: en
text: GD2 synthase, GM2 synthase
lang: en
text: beta1-4GalNAc-T
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 23 (Orphanet code 101003)
Associated genes:
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: spastic paraplegia 23 (autosomal recessive)
Symbol: SPG23
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 24 (Orphanet code 101004)
Associated genes:
Name: spastic paraplegia 24 (autosomal recessive)
Symbol: SPG24
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 21 (Orphanet code 101001)
Associated genes:
Name: SPG21 abhydrolase domain containing, maspardin
Symbol: SPG21
Synonyms: lang: en
text: ABHD21
lang: en
text: ACP33
lang: en
text: BM-019
lang: en
text: GL010
lang: en
text: MAST
GeneType: Name: gene with protein product
Rare disease: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome (Orphanet code 675775)
Associated genes:
Name: rabenosyn, RAB effector
Symbol: RBSN
Synonyms: lang: en
text: Rabenosyn-5
GeneType: Name: gene with protein product
Rare disease: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN (Orphanet code 675782)
Associated genes:
Name: rabenosyn, RAB effector
Symbol: RBSN
Synonyms: lang: en
text: Rabenosyn-5
GeneType: Name: gene with protein product
Rare disease: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency (Orphanet code 676125)
Associated genes:
Name: E74 like ETS transcription factor 4
Symbol: ELF4
Synonyms: lang: en
text: ELFR
lang: en
text: MEF
GeneType: Name: gene with protein product
Rare disease: Carcinoid syndrome (Orphanet code 100093)
Associated genes:
Name: succinate dehydrogenase complex subunit D
Symbol: SDHD
Synonyms: lang: en
text: cybS
lang: en
text: small subunit of cytochrome b
GeneType: Name: gene with protein product
Rare disease: Porphyria due to ALA dehydratase deficiency (Orphanet code 100924)
Associated genes:
Name: aminolevulinate dehydratase
Symbol: ALAD
Synonyms: lang: en
text: ALADH
lang: en
text: PBGS
lang: en
text: porphobilinogen synthase
GeneType: Name: gene with protein product
Rare disease: FRAXE intellectual disability (Orphanet code 100973)
Associated genes:
Name: ALF transcription elongation factor 2
Symbol: AFF2
Synonyms: lang: en
text: FRAXE
GeneType: Name: gene with protein product
Name: fragile X mental retardation associated 3
Symbol: FMR3
GeneType: Name: Disorder-associated locus
Rare disease: FRAXF syndrome (Orphanet code 100974)
Associated genes:
Name: transmembrane protein 185A
Symbol: TMEM185A
Synonyms: lang: en
text: FRAXF
GeneType: Name: gene with protein product
Rare disease: Bathing suit ichthyosis (Orphanet code 100976)
Associated genes:
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
Rare disease: F12-related hereditary angioedema with normal C1Inh (Orphanet code 100054)
Associated genes:
Name: coagulation factor XII
Symbol: F12
Synonyms: lang: en
text: Plasma coagulation Factor XIIa
GeneType: Name: gene with protein product
Rare disease: Hereditary angioedema type 2 (Orphanet code 100051)
Associated genes:
Name: serpin family G member 1
Symbol: SERPING1
Synonyms: lang: en
text: C1-INH
lang: en
text: C1-inhibitor
lang: en
text: C1IN
lang: en
text: C1INH
lang: en
text: HAE1
lang: en
text: HAE2
lang: en
text: angioedema, hereditary
lang: en
text: plasma protease C1 inhibitor
GeneType: Name: gene with protein product
Rare disease: Renin-angiotensin-aldosterone system-blocker-induced angioedema (Orphanet code 100057)
Associated genes:
Name: X-prolyl aminopeptidase 2
Symbol: XPNPEP2
GeneType: Name: gene with protein product
Rare disease: Semantic dementia (Orphanet code 100069)
Associated genes:
Name: presenilin 1
Symbol: PSEN1
Synonyms: lang: en
text: FAD
lang: en
text: PS-1
lang: en
text: PS1
lang: en
text: PSNL1
lang: en
text: S182
lang: en
text: familial Alzheimer Disease
GeneType: Name: gene with protein product
Name: transmembrane protein 106B
Symbol: TMEM106B
Synonyms: lang: en
text: FLJ11273
lang: en
text: MGC33727
GeneType: Name: gene with protein product
Name: charged multivesicular body protein 2B
Symbol: CHMP2B
Synonyms: lang: en
text: CHMP2.5
lang: en
text: DKFZP564O123
lang: en
text: VPS2 homolog B (S. cerevisiae)
lang: en
text: VPS2B
GeneType: Name: gene with protein product
Name: triggering receptor expressed on myeloid cells 2
Symbol: TREM2
Synonyms: lang: en
text: TREM-2
lang: en
text: Trem2a
lang: en
text: Trem2b
lang: en
text: Trem2c
GeneType: Name: gene with protein product
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Name: granulin precursor
Symbol: GRN
Synonyms: lang: en
text: CLN11
lang: en
text: PCDGF
lang: en
text: PGRN
lang: en
text: progranulin
GeneType: Name: gene with protein product
Name: C9orf72-SMCR8 complex subunit
Symbol: C9ORF72
Synonyms: lang: en
text: DENND9
lang: en
text: DENNL72
lang: en
text: MGC23980
GeneType: Name: gene with protein product
Rare disease: Progressive non-fluent aphasia (Orphanet code 100070)
Associated genes:
Name: transmembrane protein 106B
Symbol: TMEM106B
Synonyms: lang: en
text: FLJ11273
lang: en
text: MGC33727
GeneType: Name: gene with protein product
Name: presenilin 1
Symbol: PSEN1
Synonyms: lang: en
text: FAD
lang: en
text: PS-1
lang: en
text: PS1
lang: en
text: PSNL1
lang: en
text: S182
lang: en
text: familial Alzheimer Disease
GeneType: Name: gene with protein product
Name: charged multivesicular body protein 2B
Symbol: CHMP2B
Synonyms: lang: en
text: CHMP2.5
lang: en
text: DKFZP564O123
lang: en
text: VPS2 homolog B (S. cerevisiae)
lang: en
text: VPS2B
GeneType: Name: gene with protein product
Name: triggering receptor expressed on myeloid cells 2
Symbol: TREM2
Synonyms: lang: en
text: TREM-2
lang: en
text: Trem2a
lang: en
text: Trem2b
lang: en
text: Trem2c
GeneType: Name: gene with protein product
Name: valosin containing protein
Symbol: VCP
Synonyms: lang: en
text: CDC48
lang: en
text: IBMPFD
lang: en
text: TERA
lang: en
text: p97
lang: en
text: transitional endoplasmic reticulum ATPase
GeneType: Name: gene with protein product
Name: microtubule associated protein tau
Symbol: MAPT
Synonyms: lang: en
text: FLJ31424
lang: en
text: FTDP-17
lang: en
text: G protein beta1/gamma2 subunit-interacting factor 1
lang: en
text: MGC138549
lang: en
text: MSTD
lang: en
text: MTBT1
lang: en
text: MTBT2
lang: en
text: PPND
lang: en
text: PPP1R103
lang: en
text: TAU
lang: en
text: Tau-PHF6
lang: en
text: Tau-derived paired helical filament hexapeptide
lang: en
text: microtubule-associated protein tau, isoform 4
lang: en
text: protein phosphatase 1, regulatory subunit 103
lang: en
text: tau
lang: en
text: tau-40
GeneType: Name: gene with protein product
Name: granulin precursor
Symbol: GRN
Synonyms: lang: en
text: CLN11
lang: en
text: PCDGF
lang: en
text: PGRN
lang: en
text: progranulin
GeneType: Name: gene with protein product
Name: C9orf72-SMCR8 complex subunit
Symbol: C9ORF72
Synonyms: lang: en
text: DENND9
lang: en
text: DENNL72
lang: en
text: MGC23980
GeneType: Name: gene with protein product
Rare disease: Neuroendocrine tumor of stomach (Orphanet code 100075)
Associated genes:
Name: ATRX chromatin remodeler
Symbol: ATRX
Synonyms: lang: en
text: RAD54 homolog (S. cerevisiae)
lang: en
text: XH2
lang: en
text: XNP
GeneType: Name: gene with protein product
Rare disease: Myelodysplastic neoplasm with increased blasts type 2 (Orphanet code 100020)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Rare disease: Myelodysplastic neoplasm with increased blasts type 1 (Orphanet code 100019)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Rare disease: Hypocalcified amelogenesis imperfecta (Orphanet code 100032)
Associated genes:
Name: family with sequence similarity 83 member H
Symbol: FAM83H
Synonyms: lang: en
text: FLJ46072
GeneType: Name: gene with protein product
Name: solute carrier family 24 member 4
Symbol: SLC24A4
Synonyms: lang: en
text: NCKX4
lang: en
text: Na/Ca-K exchanger 4
GeneType: Name: gene with protein product
Name: integrin subunit beta 6
Symbol: ITGB6
GeneType: Name: gene with protein product
Name: amelotin
Symbol: AMTN
Synonyms: lang: en
text: RSTI689
lang: en
text: UNQ689
GeneType: Name: gene with protein product
Rare disease: Hypoplastic amelogenesis imperfecta (Orphanet code 100031)
Associated genes:
Name: acid phosphatase 4
Symbol: ACP4
Synonyms: lang: en
text: testicular acid phosphatase
GeneType: Name: gene with protein product
Name: Sp6 transcription factor
Symbol: SP6
Synonyms: lang: en
text: Epfn
lang: en
text: KLF14
lang: en
text: epiprofin
GeneType: Name: gene with protein product
Name: RELT TNF receptor
Symbol: RELT
Synonyms: lang: en
text: FLJ14993
lang: en
text: receptor expressed in lymphoid tissues
GeneType: Name: gene with protein product
Name: enamelin
Symbol: ENAM
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: integrin subunit beta 6
Symbol: ITGB6
GeneType: Name: gene with protein product
Name: ameloblastin
Symbol: AMBN
Synonyms: lang: en
text: enamel matrix protein
GeneType: Name: gene with protein product
Rare disease: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism (Orphanet code 100034)
Associated genes:
Name: distal-less homeobox 3
Symbol: DLX3
GeneType: Name: gene with protein product
Rare disease: Hypomaturation amelogenesis imperfecta (Orphanet code 100033)
Associated genes:
Name: G protein-coupled receptor 68
Symbol: GPR68
Synonyms: lang: en
text: OGR1
GeneType: Name: gene with protein product
Name: amelogenin X-linked
Symbol: AMELX
Synonyms: lang: en
text: amelogenesis imperfecta 1
GeneType: Name: gene with protein product
Name: kallikrein related peptidase 4
Symbol: KLK4
Synonyms: lang: en
text: EMSP
lang: en
text: EMSP1
lang: en
text: KLK-L1
lang: en
text: PSTS
lang: en
text: enamel matrix serine proteinase 1
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 20
Symbol: MMP20
Synonyms: lang: en
text: enamelysin
GeneType: Name: gene with protein product
Name: WD repeat domain 72
Symbol: WDR72
Synonyms: lang: en
text: FLJ38736
GeneType: Name: gene with protein product
Name: odontogenesis associated phosphoprotein
Symbol: ODAPH
Synonyms: lang: en
text: AI2A4
lang: en
text: FLJ23657
lang: en
text: amelogenesis imperfecta type IIA4
GeneType: Name: gene with protein product
Name: solute carrier family 24 member 4
Symbol: SLC24A4
Synonyms: lang: en
text: NCKX4
lang: en
text: Na/Ca-K exchanger 4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (Orphanet code 100044)
Associated genes:
Name: dynamin 2
Symbol: DNM2
Synonyms: lang: en
text: CMT2M
lang: en
text: CMTDI1
lang: en
text: CMTDIB
lang: en
text: DI-CMTB
lang: en
text: DYN2
lang: en
text: DYNII
lang: en
text: cytoskeletal protein
lang: en
text: dynamin II
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (Orphanet code 100045)
Associated genes:
Name: tyrosyl-tRNA synthetase 1
Symbol: YARS1
Synonyms: lang: en
text: YRS
lang: en
text: YTS
lang: en
text: tyrRS
lang: en
text: tyrosine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (Orphanet code 100046)
Associated genes:
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Hereditary angioedema type 1 (Orphanet code 100050)
Associated genes:
Name: serpin family G member 1
Symbol: SERPING1
Synonyms: lang: en
text: C1-INH
lang: en
text: C1-inhibitor
lang: en
text: C1IN
lang: en
text: C1INH
lang: en
text: HAE1
lang: en
text: HAE2
lang: en
text: angioedema, hereditary
lang: en
text: plasma protease C1 inhibitor
GeneType: Name: gene with protein product
Rare disease: Mandibuloacral dysplasia associated to MTX2 (Orphanet code 647667)
Associated genes:
Name: metaxin 2
Symbol: MTX2
GeneType: Name: gene with protein product