TaoMedAI/RareMedData huggingface dataset:
Rare disease: Acute promyelocytic leukemia (Orphanet code 520)
Associated genes:
Name: PML nuclear body scaffold
Symbol: PML
Synonyms: lang: en
text: MYL
lang: en
text: RNF71
lang: en
text: TRIM19
GeneType: Name: gene with protein product
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Symbol: PRKAR1A
Synonyms: lang: en
text: CNC1
lang: en
text: Carney complex type 1
GeneType: Name: gene with protein product
Name: retinoic acid receptor alpha
Symbol: RARA
Synonyms: lang: en
text: NR1B1
lang: en
text: RAR
lang: en
text: RAR-alpha
lang: en
text: RARalpha
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 5B
Symbol: STAT5B
GeneType: Name: gene with protein product
Name: factor interacting with PAPOLA and CPSF1
Symbol: FIP1L1
Synonyms: lang: en
text: DKFZp586K0717
lang: en
text: FIP1
lang: en
text: hFip1
GeneType: Name: gene with protein product
Name: nucleophosmin 1
Symbol: NPM1
Synonyms: lang: en
text: B23
lang: en
text: NPM
lang: en
text: Nucleophosmin/nucleoplasmin family, member 1
lang: en
text: Numatrin
lang: en
text: nucleolar phosphoprotein B23
lang: en
text: nucleophosmin/nucleoplasmin family, member 1
lang: en
text: numatrin
GeneType: Name: gene with protein product
Name: nucleic acid binding protein 1
Symbol: NABP1
Synonyms: lang: en
text: DKFZp667M1322
lang: en
text: FLJ13624
lang: en
text: FLJ22833
lang: en
text: MGC111163
lang: en
text: SOSS-B2
lang: en
text: SSB2
lang: en
text: hSSB2
lang: en
text: sensor of single-strand DNA complex subunit B2
lang: en
text: single-stranded DNA-binding protein 2
GeneType: Name: gene with protein product
Name: zinc finger and BTB domain containing 16
Symbol: ZBTB16
Synonyms: lang: en
text: PLZF
lang: en
text: promyelocytic leukaemia zinc finger
GeneType: Name: gene with protein product
Name: nuclear mitotic apparatus protein 1
Symbol: NUMA1
Synonyms: lang: en
text: NUMA
GeneType: Name: gene with protein product
Name: TBL1X/Y related 1
Symbol: TBL1XR1
Synonyms: lang: en
text: C21
lang: en
text: DC42
lang: en
text: F-box-like/WD repeat-containing protein TBL1XR1
lang: en
text: FLJ12894
lang: en
text: IRA1
lang: en
text: TBL1-related protein
lang: en
text: TBLR1
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: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Name: BCL6 corepressor
Symbol: BCOR
Synonyms: lang: en
text: BCL-6 coreceptor
lang: en
text: BCL6 interacting corepressor
lang: en
text: FLJ20285
lang: en
text: KIAA1575
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the oral cavity (Orphanet code 502363)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
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: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the lip (Orphanet code 502366)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
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: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (Orphanet code 502423)
Associated genes:
Name: misato mitochondrial distribution and morphology regulator 1
Symbol: MSTO1
Synonyms: lang: en
text: FLJ10504
lang: en
text: LST005
lang: en
text: MST
lang: en
text: misato
GeneType: Name: gene with protein product
Rare disease: Weiss-Kruszka Syndrome (Orphanet code 502430)
Associated genes:
Name: zinc finger protein 462
Symbol: ZNF462
Synonyms: lang: en
text: DKFZP762N2316
lang: en
text: KIAA1803
lang: en
text: Zfp462
GeneType: Name: gene with protein product
Rare disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (Orphanet code 502434)
Associated genes:
Name: STAG1 cohesin complex component
Symbol: STAG1
Synonyms: lang: en
text: SA-1
lang: en
text: SA1
lang: en
text: SCC3A
lang: en
text: cohesin subunit SA-1
lang: en
text: sister chromatid cohesion 3 homolog (S. cerevisiae) A
GeneType: Name: gene with protein product
Rare disease: Alkaline ceramidase 3 deficiency (Orphanet code 502444)
Associated genes:
Name: alkaline ceramidase 3
Symbol: ACER3
Synonyms: lang: en
text: APHC
lang: en
text: FLJ11238
lang: en
text: alkaline phytoceramidase
GeneType: Name: gene with protein product
Rare disease: Aromatase deficiency (Orphanet code 91)
Associated genes:
Name: cytochrome P450 family 19 subfamily A member 1
Symbol: CYP19A1
Synonyms: lang: en
text: ARO
lang: en
text: ARO1
lang: en
text: CPV1
lang: en
text: CYAR
lang: en
text: P-450AROM
lang: en
text: aromatase
GeneType: Name: gene with protein product
Rare disease: Estrogen resistance syndrome (Orphanet code 785)
Associated genes:
Name: estrogen receptor 1
Symbol: ESR1
Synonyms: lang: en
text: E2 receptor alpha
lang: en
text: ER
lang: en
text: ER-alpha
lang: en
text: Era
lang: en
text: NR3A1
lang: en
text: estradiol receptor
lang: en
text: estrogen receptor alpha
lang: en
text: nuclear receptor subfamily 3 group A member 1
lang: en
text: oestrogen receptor alpha
GeneType: Name: gene with protein product
Rare disease: Desmoid tumor (Orphanet code 873)
Associated genes:
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Name: APC regulator of WNT signaling pathway
Symbol: APC
Synonyms: lang: en
text: DP2
lang: en
text: DP2.5
lang: en
text: DP3
lang: en
text: PPP1R46
lang: en
text: protein phosphatase 1, regulatory subunit 46
GeneType: Name: gene with protein product
Rare disease: Bullous pemphigoid (Orphanet code 703)
Associated genes:
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DQ beta 1
Symbol: HLA-DQB1
Synonyms: lang: en
text: CELIAC1
lang: en
text: IDDM1
GeneType: Name: gene with protein product
Rare disease: Sebocystomatosis (Orphanet code 841)
Associated genes:
Name: keratin 17
Symbol: KRT17
GeneType: Name: gene with protein product
Rare disease: Familial multiple trichoepithelioma (Orphanet code 867)
Associated genes:
Name: CYLD lysine 63 deubiquitinase
Symbol: CYLD
Synonyms: lang: en
text: KIAA0849
lang: en
text: USPL2
lang: en
text: ubiquitin specific peptidase like 2
GeneType: Name: gene with protein product
Rare disease: Porokeratosis of Mibelli (Orphanet code 735)
Associated genes:
Name: mevalonate kinase
Symbol: MVK
Synonyms: lang: en
text: LH receptor mRNA-binding protein
lang: en
text: LRBP
lang: en
text: MK
lang: en
text: mevalonic aciduria
GeneType: Name: gene with protein product
Name: phosphomevalonate kinase
Symbol: PMVK
Synonyms: lang: en
text: HUMPMKI
lang: en
text: PMK
lang: en
text: PMKA
GeneType: Name: gene with protein product
Rare disease: Childhood-onset basal ganglia degeneration syndrome (Orphanet code 497906)
Associated genes:
Name: VAC14 component of PIKFYVE complex
Symbol: VAC14
Synonyms: lang: en
text: ArPIKfyve
lang: en
text: FLJ10305
GeneType: Name: gene with protein product
Rare disease: Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Orphanet code 659)
Associated genes:
Name: p53 apoptosis effector related to PMP22
Symbol: PERP
Synonyms: lang: en
text: KCP1
lang: en
text: KRTCAP1
lang: en
text: PIGPC1
lang: en
text: THW
lang: en
text: dJ496H19.1
lang: en
text: keratinocyte associated protein 1
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
Name: transient receptor potential cation channel subfamily V member 3
Symbol: TRPV3
Synonyms: lang: en
text: VRL3
GeneType: Name: gene with protein product
Rare disease: Hereditary leiomyomatosis and renal cell cancer (Orphanet code 523)
Associated genes:
Name: fumarate hydratase
Symbol: FH
Synonyms: lang: en
text: fumarase
GeneType: Name: gene with protein product
Rare disease: MME-related autosomal dominant Charcot Marie Tooth disease type 2 (Orphanet code 497757)
Associated genes:
Name: membrane metalloendopeptidase
Symbol: MME
Synonyms: lang: en
text: CALLA
lang: en
text: CD10
lang: en
text: NEP
lang: en
text: enkephalinase
lang: en
text: neprilysin
lang: en
text: neutral endopeptidase
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 43 (Orphanet code 497764)
Associated genes:
Name: membrane metalloendopeptidase
Symbol: MME
Synonyms: lang: en
text: CALLA
lang: en
text: CD10
lang: en
text: NEP
lang: en
text: enkephalinase
lang: en
text: neprilysin
lang: en
text: neutral endopeptidase
GeneType: Name: gene with protein product
Rare disease: Lipoid proteinosis (Orphanet code 530)
Associated genes:
Name: extracellular matrix protein 1
Symbol: ECM1
GeneType: Name: gene with protein product
Rare disease: Alpha delta granule deficiency (Orphanet code 734)
Associated genes:
Name: growth factor independent 1B transcriptional repressor
Symbol: GFI1B
Synonyms: lang: en
text: ZNF163B
GeneType: Name: gene with protein product
Rare disease: Gray platelet syndrome (Orphanet code 721)
Associated genes:
Name: neurobeachin like 2
Symbol: NBEAL2
Synonyms: lang: en
text: KIAA0540
GeneType: Name: gene with protein product
Rare disease: Hypoplasminogenemia (Orphanet code 722)
Associated genes:
Name: plasminogen
Symbol: PLG
GeneType: Name: gene with protein product
Rare disease: Congenital prekallikrein deficiency (Orphanet code 749)
Associated genes:
Name: kallikrein B1
Symbol: KLKB1
Synonyms: lang: en
text: Fletcher factor
GeneType: Name: gene with protein product
Rare disease: Fetal and neonatal alloimmune thrombocytopenia (Orphanet code 853)
Associated genes:
Name: glycoprotein Ib platelet subunit alpha
Symbol: GP1BA
Synonyms: lang: en
text: CD42b
lang: en
text: GPIbalpha
lang: en
text: platelet glycoprotein Ib alpha chain
GeneType: Name: gene with protein product
Name: glycoprotein Ib platelet subunit beta
Symbol: GP1BB
Synonyms: lang: en
text: CD42c
lang: en
text: GPIbbeta
lang: en
text: platelet glycoprotein Ib beta chain
GeneType: Name: gene with protein product
Name: integrin subunit alpha 2b
Symbol: ITGA2B
Synonyms: lang: en
text: CD41
lang: en
text: CD41B
lang: en
text: GPIIb
lang: en
text: Integrin alpha-IIb
lang: en
text: PPP1R93
lang: en
text: platelet glycoprotein IIb of IIb/IIIa complex
lang: en
text: protein phosphatase 1, regulatory subunit 93
GeneType: Name: gene with protein product
Name: integrin subunit beta 3
Symbol: ITGB3
Synonyms: lang: en
text: CD61
lang: en
text: GPIIIa
lang: en
text: antigen CD61
lang: en
text: platelet glycoprotein IIIa
GeneType: Name: gene with protein product
Name: integrin subunit alpha 2
Symbol: ITGA2
Synonyms: lang: en
text: GPIa
lang: en
text: HPA-5
lang: en
text: VLAA2
lang: en
text: alpha 2 integrin
lang: en
text: alpha 2 subunit of VLA-2 receptor
lang: en
text: glycoprotein Ia
lang: en
text: human platelet alloantigen 5
lang: en
text: very late activation receptor subunit alpha-2
GeneType: Name: gene with protein product
Name: CD109 molecule
Symbol: CD109
Synonyms: lang: en
text: CPAMD7
lang: en
text: DKFZp762L1111
lang: en
text: FLJ38569
GeneType: Name: gene with protein product
Rare disease: Congenital high-molecular-weight kininogen deficiency (Orphanet code 483)
Associated genes:
Name: kininogen 1
Symbol: KNG1
Synonyms: lang: en
text: BK
lang: en
text: HMWK
lang: en
text: alpha-2-thiol proteinase inhibitor
lang: en
text: bradykinin
lang: en
text: high-molecular-weight kininogen
GeneType: Name: gene with protein product
Rare disease: Aquagenic palmoplantar keratoderma (Orphanet code 498359)
Associated genes:
Name: CF transmembrane conductance regulator
Symbol: CFTR
Synonyms: lang: en
text: ABC35
lang: en
text: ATP-binding cassette sub-family C, member 7
lang: en
text: CFTR/MRP
lang: en
text: MRP7
lang: en
text: TNR-CFTR
lang: en
text: dJ760C5.1
GeneType: Name: gene with protein product
Rare disease: X-linked thrombocytopenia with normal platelets (Orphanet code 852)
Associated genes:
Name: WASP actin nucleation promoting factor
Symbol: WAS
Synonyms: lang: en
text: WASP
lang: en
text: WASPA
lang: en
text: eczema-thrombocytopenia
GeneType: Name: gene with protein product
Rare disease: Congenital plasminogen activator inhibitor type 1 deficiency (Orphanet code 465)
Associated genes:
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: Menstrual cycle-dependent periodic fever (Orphanet code 498251)
Associated genes:
Name: 5-hydroxytryptamine receptor 1A
Symbol: HTR1A
Synonyms: lang: en
text: 5-HT1A
GeneType: Name: gene with protein product
Rare disease: Parathyroid carcinoma (Orphanet code 143)
Associated genes:
Name: cell division cycle 73
Symbol: CDC73
Synonyms: lang: en
text: FIHP
lang: en
text: Paf1/RNA polymerase II complex component
lang: en
text: parafibromin
GeneType: Name: gene with protein product
Rare disease: Generalized glucocorticoid resistance syndrome (Orphanet code 786)
Associated genes:
Name: nuclear receptor subfamily 3 group C member 1
Symbol: NR3C1
Synonyms: lang: en
text: GR
lang: en
text: glucocorticoid receptor
GeneType: Name: gene with protein product
Rare disease: Familial atrial myxoma (Orphanet code 615)
Associated genes:
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Symbol: PRKAR1A
Synonyms: lang: en
text: CNC1
lang: en
text: Carney complex type 1
GeneType: Name: gene with protein product
Rare disease: Short rib-polydactyly syndrome type 5 (Orphanet code 498497)
Associated genes:
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
Rare disease: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (Orphanet code 498693)
Associated genes:
Name: myosin binding protein C1
Symbol: MYBPC1
Synonyms: lang: en
text: slow skeletal-type muscle myosin-binding-protein C
lang: en
text: ssMyBP-C
GeneType: Name: gene with protein product
Rare disease: Marie Unna hereditary hypotrichosis (Orphanet code 444)
Associated genes:
Name: EPS8 signaling adaptor L3
Symbol: EPS8L3
Synonyms: lang: en
text: Epidermal growth factor receptor kinase substrate 8-like protein 3
lang: en
text: FLJ21522
lang: en
text: MGC16817
GeneType: Name: gene with protein product
Name: HR lysine demethylase and nuclear receptor corepressor
Symbol: HR
Synonyms: lang: en
text: AU
GeneType: Name: gene with protein product
Rare disease: LRP5-related primary osteoporosis (Orphanet code 498481)
Associated genes:
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Rare disease: Monilethrix (Orphanet code 573)
Associated genes:
Name: keratin 86
Symbol: KRT86
Synonyms: lang: en
text: Hb6
lang: en
text: MNX
lang: en
text: hard keratin type II 6
GeneType: Name: gene with protein product
Name: keratin 83
Symbol: KRT83
Synonyms: lang: en
text: Hb-3
lang: en
text: hard keratin type II
GeneType: Name: gene with protein product
Name: keratin 81
Symbol: KRT81
Synonyms: lang: en
text: Hb-1
lang: en
text: hard keratin type II 1
GeneType: Name: gene with protein product
Name: desmoglein 4
Symbol: DSG4
Synonyms: lang: en
text: CDHF13
lang: en
text: LAH
GeneType: Name: gene with protein product
Rare disease: Syringocystadenoma papilliferum (Orphanet code 840)
Associated genes:
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Rare disease: Mirror-image polydactyly (Orphanet code 498494)
Associated genes:
Name: paired like homeodomain 1
Symbol: PITX1
Synonyms: lang: en
text: POTX
lang: en
text: PTX1
GeneType: Name: gene with protein product
Rare disease: Huriez syndrome (Orphanet code 384)
Associated genes:
Name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Symbol: SMARCAD1
Synonyms: lang: en
text: DKFZP762K2015
lang: en
text: DKFZp762K2015
lang: en
text: ETL1
lang: en
text: KIAA1122
GeneType: Name: gene with protein product
Rare disease: Dyschromatosis symmetrica hereditaria (Orphanet code 41)
Associated genes:
Name: adenosine deaminase RNA specific
Symbol: ADAR
Synonyms: lang: en
text: ADAR1
lang: en
text: DRADA
lang: en
text: Double-stranded RNA-specific adenosine deaminase
GeneType: Name: gene with protein product
Rare disease: Birt-Hogg-Dubé syndrome (Orphanet code 122)
Associated genes:
Name: PR/SET domain 10
Symbol: PRDM10
Synonyms: lang: en
text: KIAA1231
lang: en
text: MGC131802
lang: en
text: PFM7
lang: en
text: PR-domain family member 7
lang: en
text: PRDM zinc finger transcription factor
lang: en
text: tristanin
GeneType: Name: gene with protein product
Name: folliculin
Symbol: FLCN
Synonyms: lang: en
text: BHD
lang: en
text: DENND8B
lang: en
text: MGC17998
lang: en
text: MGC23445
GeneType: Name: gene with protein product
Rare disease: Dyschromatosis universalis hereditaria (Orphanet code 241)
Associated genes:
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
Rare disease: Progressive symmetric erythrokeratodermia (Orphanet code 316)
Associated genes:
Name: transient receptor potential cation channel subfamily M member 4
Symbol: TRPM4
Synonyms: lang: en
text: FLJ20041
GeneType: Name: gene with protein product
Name: keratin 83
Symbol: KRT83
Synonyms: lang: en
text: Hb-3
lang: en
text: hard keratin type II
GeneType: Name: gene with protein product
Name: 3-ketodihydrosphingosine reductase
Symbol: KDSR
Synonyms: lang: en
text: 3-dehydrosphinganine reductase
lang: en
text: DHSR
lang: en
text: SDR35C1
lang: en
text: short chain dehydrogenase/reductase family 35C, member 1
GeneType: Name: gene with protein product
Name: loricrin cornified envelope precursor protein
Symbol: LORICRIN
GeneType: Name: gene with protein product
Rare disease: Familial cylindromatosis (Orphanet code 211)
Associated genes:
Name: CYLD lysine 63 deubiquitinase
Symbol: CYLD
Synonyms: lang: en
text: KIAA0849
lang: en
text: USPL2
lang: en
text: ubiquitin specific peptidase like 2
GeneType: Name: gene with protein product
Rare disease: Kindler epidermolysis bullosa (Orphanet code 2908)
Associated genes:
Name: FERM domain containing kindlin 1
Symbol: FERMT1
Synonyms: lang: en
text: FLJ20116
lang: en
text: KIND1
lang: en
text: UNC112A
lang: en
text: URP1
lang: en
text: kinderlin
lang: en
text: kindlin-1
GeneType: Name: gene with protein product
Rare disease: Reynolds syndrome (Orphanet code 779)
Associated genes:
Name: lamin B receptor
Symbol: LBR
Synonyms: lang: en
text: DHCR14B
lang: en
text: TDRD18
lang: en
text: tudor domain containing 18
GeneType: Name: gene with protein product
Rare disease: Prenatal-onset spinal muscular atrophy with congenital bone fractures (Orphanet code 486811)
Associated genes:
Name: activating signal cointegrator 1 complex subunit 1
Symbol: ASCC1
Synonyms: lang: en
text: ASC1p50
lang: en
text: CGI-18
lang: en
text: Em:AC022392.3
lang: en
text: p50
GeneType: Name: gene with protein product
Name: thyroid hormone receptor interactor 4
Symbol: TRIP4
Synonyms: lang: en
text: ASC-1
lang: en
text: Activating Signal Cointegrator-1
lang: en
text: HsT17391
lang: en
text: ZC2HC5
lang: en
text: zinc finger, C2HC5-type
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (Orphanet code 486815)
Associated genes:
Name: thyroid hormone receptor interactor 4
Symbol: TRIP4
Synonyms: lang: en
text: ASC-1
lang: en
text: Activating Signal Cointegrator-1
lang: en
text: HsT17391
lang: en
text: ZC2HC5
lang: en
text: zinc finger, C2HC5-type
GeneType: Name: gene with protein product
Rare disease: EMILIN-1-related connective tissue disease (Orphanet code 485418)
Associated genes:
Name: elastin microfibril interfacer 1
Symbol: EMILIN1
Synonyms: lang: en
text: DKFZp586M121
lang: en
text: EMILIN
lang: en
text: gp115
GeneType: Name: gene with protein product
Rare disease: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet code 485421)
Associated genes:
Name: mitochondrial fission factor
Symbol: MFF
Synonyms: lang: en
text: GL004
GeneType: Name: gene with protein product
Rare disease: CLCN4-related X-linked intellectual disability syndrome (Orphanet code 485350)
Associated genes:
Name: chloride voltage-gated channel 4
Symbol: CLCN4
Synonyms: lang: en
text: CLC4
lang: en
text: ClC-4
GeneType: Name: gene with protein product
Rare disease: Acquired schizencephaly (Orphanet code 485275)
Associated genes:
Name: empty spiracles homeobox 2
Symbol: EMX2
GeneType: Name: gene with protein product
Name: SIX homeobox 3
Symbol: SIX3
GeneType: Name: gene with protein product
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Rare disease: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome (Orphanet code 482606)
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: Adenylosuccinate synthetase-like 1-related distal myopathy (Orphanet code 482601)
Associated genes:
Name: adenylosuccinate synthase 1
Symbol: ADSS1
Synonyms: lang: en
text: FLJ38602
GeneType: Name: gene with protein product