TaoMedAI/RareMedData huggingface dataset:
Rare disease: Renal agenesis, bilateral (Orphanet code 1848)
Associated genes:
Name: Wnt family member 9B
Symbol: WNT9B
Synonyms: lang: en
text: WNT14B
GeneType: Name: gene with protein product
Name: GREB1 like retinoic acid receptor coactivator
Symbol: GREB1L
Synonyms: lang: en
text: C18orf6
lang: en
text: FLJ13687
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Name: integrin subunit alpha 8
Symbol: ITGA8
GeneType: Name: gene with protein product
Name: fibroblast growth factor 20
Symbol: FGF20
GeneType: Name: gene with protein product
Name: GDNF family receptor alpha 1
Symbol: GFRA1
Synonyms: lang: en
text: GDNFR
lang: en
text: GFR-ALPHA-1
lang: en
text: RET1L
lang: en
text: RETL1
lang: en
text: TRNR1
GeneType: Name: gene with protein product
Rare disease: Hutchinson-Gilford progeria syndrome (Orphanet code 740)
Associated genes:
Name: zinc metallopeptidase STE24
Symbol: ZMPSTE24
Synonyms: lang: en
text: CAAX prenyl protease 1 homolog
lang: en
text: FACE-1
lang: en
text: HGPS
lang: en
text: Hutchinson-Gilford progeria syndrome
lang: en
text: PRO1
lang: en
text: STE24
lang: en
text: Ste24p
GeneType: Name: gene with protein product
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Guttmacher syndrome (Orphanet code 2957)
Associated genes:
Name: homeobox A13
Symbol: HOXA13
GeneType: Name: gene with protein product
Rare disease: Isolated polycystic liver disease (Orphanet code 2924)
Associated genes:
Name: PRKCSH beta subunit of glucosidase II
Symbol: PRKCSH
Synonyms: lang: en
text: 80K-H
lang: en
text: AGE-R2
lang: en
text: GIIB
lang: en
text: GIIbeta
lang: en
text: GluIIbeta
lang: en
text: PKCSH
lang: en
text: VASAP-60
lang: en
text: advanced glycation end-product receptor 2
lang: en
text: glucosidase 2 subunit beta
lang: en
text: glucosidase II beta subunit
lang: en
text: hepatocystin
GeneType: Name: gene with protein product
Name: SEC63 homolog, protein translocation regulator
Symbol: SEC63
Synonyms: lang: en
text: DNAJC23
lang: en
text: ERdj2
lang: en
text: PRO2507
lang: en
text: SEC63L
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: Pitt-Hopkins syndrome (Orphanet code 2896)
Associated genes:
Name: transcription factor 4
Symbol: TCF4
Synonyms: lang: en
text: E2-2
lang: en
text: ITF2
lang: en
text: SEF2-1B
lang: en
text: SL3-3 enhancer factor 2
lang: en
text: bHLHb19
lang: en
text: class B basic helix-loop-helix protein 19
lang: en
text: immunoglobulin transcription factor 2
GeneType: Name: gene with protein product
Name: transcription factor 4
Symbol: TCF4
Synonyms: lang: en
text: E2-2
lang: en
text: ITF2
lang: en
text: SEF2-1B
lang: en
text: SL3-3 enhancer factor 2
lang: en
text: bHLHb19
lang: en
text: class B basic helix-loop-helix protein 19
lang: en
text: immunoglobulin transcription factor 2
GeneType: Name: gene with protein product
Rare disease: Brachyolmia-amelogenesis imperfecta syndrome (Orphanet code 2899)
Associated genes:
Name: latent transforming growth factor beta binding protein 3
Symbol: LTBP3
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to liver phosphorylase kinase deficiency (Orphanet code 264580)
Associated genes:
Name: phosphorylase kinase regulatory subunit alpha 2
Symbol: PHKA2
GeneType: Name: gene with protein product
Name: phosphorylase kinase catalytic subunit gamma 2
Symbol: PHKG2
GeneType: Name: gene with protein product
Rare disease: Orofaciodigital syndrome type 5 (Orphanet code 2919)
Associated genes:
Name: DEAD-box helicase 59
Symbol: DDX59
Synonyms: lang: en
text: DKFZP564B1023
lang: en
text: ZNHIT5
lang: en
text: zinc finger HIT-type containing 5
GeneType: Name: gene with protein product
Rare disease: Hereditary pulmonary alveolar proteinosis (Orphanet code 264675)
Associated genes:
Name: colony stimulating factor 2 receptor subunit beta
Symbol: CSF2RB
Synonyms: lang: en
text: CD131
lang: en
text: IL5RB
lang: en
text: beta common cytokine receptor
lang: en
text: beta-GM-CSF receptor
lang: en
text: betaGMR
GeneType: Name: gene with protein product
Name: colony stimulating factor 2 receptor subunit alpha
Symbol: CSF2RA
Synonyms: lang: en
text: CD116
lang: en
text: alpha-GM-CSF receptor
lang: en
text: alphaGMR
GeneType: Name: gene with protein product
Rare disease: Trismus-pseudocamptodactyly syndrome (Orphanet code 3377)
Associated genes:
Name: myosin heavy chain 8
Symbol: MYH8
Synonyms: lang: en
text: MyHC-peri
lang: en
text: MyHC-pn
GeneType: Name: gene with protein product
Rare disease: Heritable pulmonary arterial hypertension (Orphanet code 275777)
Associated genes:
Name: ATPase 13A3
Symbol: ATP13A3
Synonyms: lang: en
text: AFURS1
lang: en
text: ATPase family homolog up regulated in senescence cells
GeneType: Name: gene with protein product
Name: activin A receptor like type 1
Symbol: ACVRL1
Synonyms: lang: en
text: ALK1
lang: en
text: HHT
lang: en
text: HHT2
lang: en
text: activin receptor-like kinase 1
GeneType: Name: gene with protein product
Name: bone morphogenetic protein receptor type 2
Symbol: BMPR2
Synonyms: lang: en
text: BMPR-II
lang: en
text: BMPR3
lang: en
text: BRK-3
lang: en
text: T-ALK
GeneType: Name: gene with protein product
Name: T-box transcription factor 4
Symbol: TBX4
GeneType: Name: gene with protein product
Name: endoglin
Symbol: ENG
Synonyms: lang: en
text: CD105
lang: en
text: END
lang: en
text: HHT1
GeneType: Name: gene with protein product
Name: caveolin 1
Symbol: CAV1
GeneType: Name: gene with protein product
Name: SMAD family member 9
Symbol: SMAD9
Synonyms: lang: en
text: SMAD8
lang: en
text: SMAD8/9
GeneType: Name: gene with protein product
Name: potassium two pore domain channel subfamily K member 3
Symbol: KCNK3
Synonyms: lang: en
text: K2p3.1
lang: en
text: TASK
lang: en
text: TASK-1
lang: en
text: TASK1
lang: en
text: TWIK-related acid-sensitive K+ 1
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2 alpha kinase 4
Symbol: EIF2AK4
Synonyms: lang: en
text: GCN2
lang: en
text: KIAA1338
lang: en
text: eIF-2-alpha kinase
GeneType: Name: gene with protein product
Name: growth differentiation factor 2
Symbol: GDF2
Synonyms: lang: en
text: BMP-9
lang: en
text: BMP9
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 17
Symbol: SOX17
GeneType: Name: gene with protein product
Rare disease: Drug- or toxin-induced pulmonary arterial hypertension (Orphanet code 275786)
Associated genes:
Name: bone morphogenetic protein receptor type 2
Symbol: BMPR2
Synonyms: lang: en
text: BMPR-II
lang: en
text: BMPR3
lang: en
text: BRK-3
lang: en
text: T-ALK
GeneType: Name: gene with protein product
Rare disease: Pulmonary arterial hypertension associated with connective tissue disease (Orphanet code 275798)
Associated genes:
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
Rare disease: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome (Orphanet code 3363)
Associated genes:
Name: patatin like phospholipase domain containing 6
Symbol: PNPLA6
Synonyms: lang: en
text: NTE
lang: en
text: SPG39
lang: en
text: SWS
lang: en
text: iPLA2delta
lang: en
text: neuropathy target esterase
lang: en
text: sws
GeneType: Name: gene with protein product
Rare disease: Non-syndromic metopic craniosynostosis (Orphanet code 3366)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: FRAS1 related extracellular matrix 1
Symbol: FREM1
Synonyms: lang: en
text: C9orf143
lang: en
text: C9orf145
lang: en
text: DKFZp686M16108
lang: en
text: FLJ25461
lang: en
text: TILRR
GeneType: Name: gene with protein product
Rare disease: VACTERL with hydrocephalus (Orphanet code 3412)
Associated genes:
Name: FA complementation group B
Symbol: FANCB
Synonyms: lang: en
text: FAAP95
lang: en
text: FAB
lang: en
text: FLJ34064
GeneType: Name: gene with protein product
Rare disease: Multiple endocrine neoplasia type 4 (Orphanet code 276152)
Associated genes:
Name: cyclin dependent kinase inhibitor 1B
Symbol: CDKN1B
Synonyms: lang: en
text: KIP1
lang: en
text: P27KIP1
GeneType: Name: gene with protein product
Rare disease: Frontotemporal dementia with motor neuron disease (Orphanet code 275872)
Associated genes:
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: TAR DNA binding protein
Symbol: TARDBP
Synonyms: lang: en
text: ALS10
lang: en
text: TDP-43
GeneType: Name: gene with protein product
Name: FUS RNA binding protein
Symbol: FUS
Synonyms: lang: en
text: FUS1
lang: en
text: HNRNPP2
lang: en
text: TLS
lang: en
text: heterogeneous nuclear ribonucleoprotein P2
lang: en
text: hnRNP-P2
lang: en
text: translocated in liposarcoma
GeneType: Name: gene with protein product
Name: sequestosome 1
Symbol: SQSTM1
Synonyms: lang: en
text: A170
lang: en
text: autophagy receptor p62
lang: en
text: p60
lang: en
text: p62
lang: en
text: p62B
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
Name: TANK binding kinase 1
Symbol: TBK1
Synonyms: lang: en
text: NAK
GeneType: Name: gene with protein product
Name: coiled-coil-helix-coiled-coil-helix domain containing 10
Symbol: CHCHD10
Synonyms: lang: en
text: MIX17 homolog A
lang: en
text: MIX17A
lang: en
text: N27C7-4
GeneType: Name: gene with protein product
Rare disease: Common arterial trunk (Orphanet code 3384)
Associated genes:
Name: T-box transcription factor 1
Symbol: TBX1
Synonyms: lang: en
text: CATCH22
GeneType: Name: gene with protein product
Name: NK2 homeobox 6
Symbol: NKX2-6
Synonyms: lang: en
text: CSX2
lang: en
text: NKX4-2
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: plexin D1
Symbol: PLXND1
Synonyms: lang: en
text: KIAA0620
GeneType: Name: gene with protein product
Rare disease: Behavioral variant of frontotemporal dementia (Orphanet code 275864)
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: sequestosome 1
Symbol: SQSTM1
Synonyms: lang: en
text: A170
lang: en
text: autophagy receptor p62
lang: en
text: p60
lang: en
text: p62
lang: en
text: p62B
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: Tibial aplasia-ectrodactyly syndrome (Orphanet code 3329)
Associated genes:
Name: basic helix-loop-helix family member a9
Symbol: BHLHA9
Synonyms: lang: en
text: BHLHF42
lang: en
text: Fingerin
lang: en
text: bHLHa9
GeneType: Name: gene with protein product
Rare disease: Hoyeraal-Hreidarsson syndrome (Orphanet code 3322)
Associated genes:
Name: dyskerin pseudouridine synthase 1
Symbol: DKC1
Synonyms: lang: en
text: Cbf5
lang: en
text: H/ACA ribonucleoprotein complex subunit 4
lang: en
text: NAP57
lang: en
text: NOLA4
lang: en
text: XAP101
lang: en
text: dyskerin
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: TERF1 interacting nuclear factor 2
Symbol: TINF2
Synonyms: lang: en
text: TIN2
GeneType: Name: gene with protein product
Name: regulator of telomere elongation helicase 1
Symbol: RTEL1
Synonyms: lang: en
text: DKFZP434C013
lang: en
text: KIAA1088
lang: en
text: NHL
lang: en
text: RTEL
lang: en
text: bK3184A7.3
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: poly(A)-specific ribonuclease
Symbol: PARN
Synonyms: lang: en
text: DAN
lang: en
text: deadenylation nuclease
GeneType: Name: gene with protein product
Rare disease: Preeclampsia (Orphanet code 275555)
Associated genes:
Name: fms related receptor tyrosine kinase 1
Symbol: FLT1
Synonyms: lang: en
text: VEGFR1
lang: en
text: vascular endothelial growth factor receptor 1
lang: en
text: vascular permeability factor receptor
GeneType: Name: gene with protein product
Name: storkhead box 1
Symbol: STOX1
Synonyms: lang: en
text: FLJ25162
GeneType: Name: gene with protein product
Name: corin, serine peptidase
Symbol: CORIN
Synonyms: lang: en
text: ATC2
lang: en
text: CRN
lang: en
text: Lrp4
lang: en
text: PRSC
lang: en
text: TMPRSS10
GeneType: Name: gene with protein product
Rare disease: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency (Orphanet code 275517)
Associated genes:
Name: caspase 8
Symbol: CASP8
Synonyms: lang: en
text: Casp-8
lang: en
text: FLICE
lang: en
text: MACH
lang: en
text: MCH5
GeneType: Name: gene with protein product
Rare disease: Tricho-dento-osseous syndrome (Orphanet code 3352)
Associated genes:
Name: distal-less homeobox 3
Symbol: DLX3
GeneType: Name: gene with protein product
Rare disease: Arterial tortuosity syndrome (Orphanet code 3342)
Associated genes:
Name: solute carrier family 2 member 10
Symbol: SLC2A10
Synonyms: lang: en
text: GLUT-10
lang: en
text: GLUT10
lang: en
text: facilitative glucose transporter GLUT10
GeneType: Name: gene with protein product
Rare disease: Oculoectodermal syndrome (Orphanet code 3339)
Associated genes:
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Rare disease: Toriello-Carey syndrome (Orphanet code 3338)
Associated genes:
Name: DEAD-box helicase 3 X-linked
Symbol: DDX3X
Synonyms: lang: en
text: CAP-Rf
lang: en
text: DBX
lang: en
text: DDX14
lang: en
text: HLP2
lang: en
text: Helicase-like protein 2
GeneType: Name: gene with protein product
Rare disease: Yunis-Varon syndrome (Orphanet code 3472)
Associated genes:
Name: FIG4 phosphoinositide 5-phosphatase
Symbol: FIG4
Synonyms: lang: en
text: ALS11
lang: en
text: CMT4J
lang: en
text: SAC3
lang: en
text: dJ249I4.1
lang: en
text: hSac3
GeneType: Name: gene with protein product
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: Congenital amegakaryocytic thrombocytopenia (Orphanet code 3319)
Associated genes:
Name: thrombopoietin
Symbol: THPO
Synonyms: lang: en
text: MPL ligand
lang: en
text: MPLLG
lang: en
text: TPO
lang: en
text: c-mpl ligand
lang: en
text: megakaryocyte colony-stimulating factor
lang: en
text: megakaryocyte growth and development factor
lang: en
text: megakaryocyte stimulating factor
lang: en
text: myeloproliferative leukemia virus oncogene ligand
lang: en
text: prepro-thrombopoietin
lang: en
text: thrombopoietin nirs
GeneType: Name: gene with protein product
Name: MPL proto-oncogene, thrombopoietin receptor
Symbol: MPL
Synonyms: lang: en
text: CD110
lang: en
text: THPOR
lang: en
text: TPOR
GeneType: Name: gene with protein product
Rare disease: Zimmermann-Laband syndrome (Orphanet code 3473)
Associated genes:
Name: potassium calcium-activated channel subfamily N member 3
Symbol: KCNN3
Synonyms: lang: en
text: KCa2.3
lang: en
text: SKCA3
lang: en
text: hSK3
lang: en
text: small conductance calcium-activated potassium channel 3
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V1 subunit B2
Symbol: ATP6V1B2
Synonyms: lang: en
text: HO57
lang: en
text: V-ATPase subunit B2
lang: en
text: VATB
lang: en
text: Vma2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily H member 1
Symbol: KCNH1
Synonyms: lang: en
text: K(V)10.1
lang: en
text: Kv10.1
lang: en
text: eag
lang: en
text: eag1
lang: en
text: ether-a-go-go 1
lang: en
text: h-eag
lang: en
text: hEAG
GeneType: Name: gene with protein product
Rare disease: Wilson-Turner syndrome (Orphanet code 3459)
Associated genes:
Name: histone deacetylase 8
Symbol: HDAC8
Synonyms: lang: en
text: KDAC8
lang: en
text: RPD3
GeneType: Name: gene with protein product
Name: LAS1 like ribosome biogenesis factor
Symbol: LAS1L
Synonyms: lang: en
text: FLJ12525
lang: en
text: Las1
GeneType: Name: gene with protein product
Rare disease: Baraitser-Winter cerebrofrontofacial syndrome (Orphanet code 2995)
Associated genes:
Name: actin beta
Symbol: ACTB
Synonyms: lang: en
text: ß-actin
GeneType: Name: gene with protein product
Name: actin gamma 1
Symbol: ACTG1
GeneType: Name: gene with protein product
Rare disease: Sweet syndrome (Orphanet code 3243)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 6
Symbol: PTPN6
GeneType: Name: gene with protein product
Name: MEFV innate immunity regulator, pyrin
Symbol: MEFV
Synonyms: lang: en
text: FMF
lang: en
text: TRIM20
lang: en
text: marenostrin
GeneType: Name: gene with protein product
Rare disease: Acromelic frontonasal dysplasia (Orphanet code 1827)
Associated genes:
Name: zinc finger SWIM-type containing 6
Symbol: ZSWIM6
Synonyms: lang: en
text: KIAA1577
GeneType: Name: gene with protein product
Rare disease: Isolated focal cortical dysplasia type Ia (Orphanet code 268973)
Associated genes:
Name: solute carrier family 35 member A2
Symbol: SLC35A2
Synonyms: lang: en
text: UDP-Gal-Tr
lang: en
text: UDP-galactose translocator
lang: en
text: UGAT
lang: en
text: UGT
lang: en
text: UGT1
lang: en
text: UGT2
lang: en
text: UGTL
GeneType: Name: gene with protein product
Rare disease: Isolated focal cortical dysplasia type IIb (Orphanet code 269008)
Associated genes:
Name: TSC complex subunit 2
Symbol: TSC2
Synonyms: lang: en
text: LAM
lang: en
text: PPP1R160
lang: en
text: protein phosphatase 1, regulatory subunit 160
lang: en
text: tuberin
GeneType: Name: gene with protein product
Name: mechanistic target of rapamycin kinase
Symbol: MTOR
Synonyms: lang: en
text: FK506 binding protein 12-rapamycin associated protein 2
lang: en
text: FKBP-rapamycin associated protein
lang: en
text: FKBP12-rapamycin complex-associated protein 1
lang: en
text: FLJ44809
lang: en
text: RAFT1
lang: en
text: RAPT1
lang: en
text: dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
lang: en
text: mammalian target of rapamycin
lang: en
text: rapamycin and FKBP12 target 1
lang: en
text: rapamycin associated protein FRAP2
lang: en
text: rapamycin target protein
GeneType: Name: gene with protein product
Name: TSC complex subunit 1
Symbol: TSC1
Synonyms: lang: en
text: KIAA0243
lang: en
text: LAM
lang: en
text: hamartin
GeneType: Name: gene with protein product
Rare disease: Isolated focal cortical dysplasia type IIa (Orphanet code 269001)
Associated genes:
Name: TSC complex subunit 2
Symbol: TSC2
Synonyms: lang: en
text: LAM
lang: en
text: PPP1R160
lang: en
text: protein phosphatase 1, regulatory subunit 160
lang: en
text: tuberin
GeneType: Name: gene with protein product
Name: mechanistic target of rapamycin kinase
Symbol: MTOR
Synonyms: lang: en
text: FK506 binding protein 12-rapamycin associated protein 2
lang: en
text: FKBP-rapamycin associated protein
lang: en
text: FKBP12-rapamycin complex-associated protein 1
lang: en
text: FLJ44809
lang: en
text: RAFT1
lang: en
text: RAPT1
lang: en
text: dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
lang: en
text: mammalian target of rapamycin
lang: en
text: rapamycin and FKBP12 target 1
lang: en
text: rapamycin associated protein FRAP2
lang: en
text: rapamycin target protein
GeneType: Name: gene with protein product
Rare disease: Van den Ende-Gupta syndrome (Orphanet code 2460)
Associated genes:
Name: scavenger receptor class F member 2
Symbol: SCARF2
Synonyms: lang: en
text: HUMZD58C02
lang: en
text: SREC-II
lang: en
text: SREC2
GeneType: Name: gene with protein product
Rare disease: Hyperostosis corticalis generalisata (Orphanet code 3416)
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: sclerostin
Symbol: SOST
Synonyms: lang: en
text: DAND6
lang: en
text: VBCH
GeneType: Name: gene with protein product
Rare disease: Autoimmune polyendocrinopathy type 1 (Orphanet code 3453)
Associated genes:
Name: autoimmune regulator
Symbol: AIRE
Synonyms: lang: en
text: APS1
lang: en
text: PGA1
lang: en
text: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
GeneType: Name: gene with protein product
Rare disease: Weill-Marchesani syndrome (Orphanet code 3449)
Associated genes:
Name: ADAM metallopeptidase with thrombospondin type 1 motif 17
Symbol: ADAMTS17
Synonyms: lang: en
text: FLJ16363
lang: en
text: FLJ32769
GeneType: Name: gene with protein product
Name: ADAM metallopeptidase with thrombospondin type 1 motif 10
Symbol: ADAMTS10
Synonyms: lang: en
text: ADAM-TS10
GeneType: Name: gene with protein product
Name: fibrillin 1
Symbol: FBN1
Synonyms: lang: en
text: MASS
lang: en
text: Marfan syndrome
lang: en
text: OCTD
lang: en
text: SGS
lang: en
text: asprosin
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 2
Symbol: LTBP2
GeneType: Name: gene with protein product