TaoMedAI/RareMedData huggingface dataset:
Rare disease: Distal myopathy with posterior leg and anterior hand involvement (Orphanet code 63273)
Associated genes:
Name: filamin C
Symbol: FLNC
Synonyms: lang: en
text: ABP-280
lang: en
text: ABPL
lang: en
text: actin binding protein 280
lang: en
text: gamma filamin
GeneType: Name: gene with protein product
Rare disease: Acrocapitofemoral dysplasia (Orphanet code 63446)
Associated genes:
Name: Indian hedgehog signaling molecule
Symbol: IHH
Synonyms: lang: en
text: BDA1
lang: en
text: HHG2
GeneType: Name: gene with protein product
Rare disease: Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet code 60040)
Associated genes:
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Idiopathic bronchiectasis (Orphanet code 60033)
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
Name: sodium channel epithelial 1 subunit alpha
Symbol: SCNN1A
Synonyms: lang: en
text: ENaCalpha
lang: en
text: amiloride-sensitive sodium channel subunit alpha
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit beta
Symbol: SCNN1B
Synonyms: lang: en
text: ENaCbeta
lang: en
text: Liddle syndrome
lang: en
text: amiloride-sensitive sodium channel subunit beta
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit gamma
Symbol: SCNN1G
Synonyms: lang: en
text: ENaCgamma
lang: en
text: SCNEG
lang: en
text: amiloride-sensitive sodium channel subunit gamma
GeneType: Name: gene with protein product
Rare disease: Neonatal ichthyosis-sclerosing cholangitis syndrome (Orphanet code 59303)
Associated genes:
Name: claudin 1
Symbol: CLDN1
Synonyms: lang: en
text: ILVASC
lang: en
text: SEMP1
lang: en
text: senescence-associated epithelial membrane protein 1
GeneType: Name: gene with protein product
Rare disease: McLeod neuroacanthocytosis syndrome (Orphanet code 59306)
Associated genes:
Name: X-linked Kx blood group antigen, Kell and VPS13A binding protein
Symbol: XK
Synonyms: lang: en
text: Kx
lang: en
text: Kx antigen
lang: en
text: McLeod syndrome
lang: en
text: X1k
lang: en
text: XKR1
GeneType: Name: gene with protein product
Rare disease: Enlarged parietal foramina (Orphanet code 60015)
Associated genes:
Name: ALX homeobox 4
Symbol: ALX4
Synonyms: lang: en
text: FPP
lang: en
text: KIAA1788
lang: en
text: PFM
GeneType: Name: gene with protein product
Name: msh homeobox 2
Symbol: MSX2
Synonyms: lang: en
text: CRS2
lang: en
text: FPP
lang: en
text: HOX8
lang: en
text: MSH
lang: en
text: PFM
lang: en
text: craniosynostosis, type 2
GeneType: Name: gene with protein product
Rare disease: Pulmonary alveolar microlithiasis (Orphanet code 60025)
Associated genes:
Name: solute carrier family 34 member 2
Symbol: SLC34A2
Synonyms: lang: en
text: NAPI-3B
lang: en
text: NAPI-IIb
lang: en
text: NPTIIb
lang: en
text: NaPi-2b
lang: en
text: NaPi2b
lang: en
text: Sodium-dependent phosphate transport protein 2B
GeneType: Name: gene with protein product
Rare disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (Orphanet code 564178)
Associated genes:
Name: ATPase Na+/K+ transporting subunit alpha 1
Symbol: ATP1A1
Synonyms: lang: en
text: sodium pump subunit alpha-1
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-1
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-1
GeneType: Name: gene with protein product
Rare disease: Loeys-Dietz syndrome (Orphanet code 60030)
Associated genes:
Name: transforming growth factor beta 2
Symbol: TGFB2
Synonyms: lang: en
text: prepro-transforming growth factor beta-2
GeneType: Name: gene with protein product
Name: transforming growth factor beta 3
Symbol: TGFB3
Synonyms: lang: en
text: prepro-transforming growth factor beta-3
GeneType: Name: gene with protein product
Name: SMAD family member 2
Symbol: SMAD2
Synonyms: lang: en
text: JV18-1
lang: en
text: MADR2
GeneType: Name: gene with protein product
Name: SMAD family member 3
Symbol: SMAD3
Synonyms: lang: en
text: HsT17436
lang: en
text: JV15-2
GeneType: Name: gene with protein product
Name: importin 8
Symbol: IPO8
Synonyms: lang: en
text: IMP8
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 1
Symbol: TGFBR1
Synonyms: lang: en
text: ACVRLK4
lang: en
text: ALK-5
lang: en
text: ALK5
lang: en
text: TBR-i
lang: en
text: TBRI
lang: en
text: activin A receptor type II-like kinase, 53kDa
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 2
Symbol: TGFBR2
Synonyms: lang: en
text: TBR-ii
lang: en
text: TBRII
GeneType: Name: gene with protein product
Rare disease: Syndromic congenital sodium diarrhea (Orphanet code 563708)
Associated genes:
Name: serine peptidase inhibitor, Kunitz type 2
Symbol: SPINT2
Synonyms: lang: en
text: HAI-2
lang: en
text: HAI2
lang: en
text: HGF activator inhibitor 2
lang: en
text: Kop
lang: en
text: Kunitz domain containing protein overexpressed in pancreatic cancer
lang: en
text: hepatocyte growth factor activator inhibitor-2
lang: en
text: placental bikunin
GeneType: Name: gene with protein product
Rare disease: Sorsby pseudoinflammatory fundus dystrophy (Orphanet code 59181)
Associated genes:
Name: TIMP metallopeptidase inhibitor 3
Symbol: TIMP3
GeneType: Name: gene with protein product
Rare disease: Laing early-onset distal myopathy (Orphanet code 59135)
Associated genes:
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Rare disease: Classic hairy cell leukemia (Orphanet code 58017)
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: Mazabraud syndrome (Orphanet code 57782)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: TNP03-related limb-girdle muscular dystrophy D2 (Orphanet code 55595)
Associated genes:
Name: transportin 3
Symbol: TNPO3
Synonyms: lang: en
text: IPO12
lang: en
text: MTR10A
lang: en
text: TRN-SR
lang: en
text: TRN-SR2
lang: en
text: importin 12
GeneType: Name: gene with protein product
Rare disease: HNRNPDL-related limb-girdle muscular dystrophy D3 (Orphanet code 55596)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein D like
Symbol: HNRNPDL
Synonyms: lang: en
text: JKTBP
lang: en
text: laAUF1
GeneType: Name: gene with protein product
Rare disease: Craniopharyngioma (Orphanet code 54595)
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
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Rare disease: Atelosteogenesis type II (Orphanet code 56304)
Associated genes:
Name: solute carrier family 26 member 2
Symbol: SLC26A2
Synonyms: lang: en
text: DTDST
lang: en
text: diastrophic dysplasia sulfate transporter
GeneType: Name: gene with protein product
Rare disease: Atelosteogenesis type III (Orphanet code 56305)
Associated genes:
Name: filamin B
Symbol: FLNB
Synonyms: lang: en
text: ABP-278
lang: en
text: FH1
lang: en
text: TABP
lang: en
text: TAP
lang: en
text: actin binding protein 278
lang: en
text: beta filamin
GeneType: Name: gene with protein product
Rare disease: Isolated exencephaly (Orphanet code 563612)
Associated genes:
Name: VANGL planar cell polarity protein 2
Symbol: VANGL2
Synonyms: lang: en
text: KIAA1215
lang: en
text: LPP1
lang: en
text: LTAP
lang: en
text: MGC119403
lang: en
text: MGC119404
lang: en
text: STB1
lang: en
text: STBM
lang: en
text: STBM1
lang: en
text: loop-tail-associated protein
lang: en
text: strabismus
lang: en
text: vang, van gogh-like 2
GeneType: Name: gene with protein product
Name: methylenetetrahydrofolate reductase
Symbol: MTHFR
GeneType: Name: gene with protein product
Rare disease: Isolated anencephaly (Orphanet code 563609)
Associated genes:
Name: VANGL planar cell polarity protein 2
Symbol: VANGL2
Synonyms: lang: en
text: KIAA1215
lang: en
text: LPP1
lang: en
text: LTAP
lang: en
text: MGC119403
lang: en
text: MGC119404
lang: en
text: STB1
lang: en
text: STBM
lang: en
text: STBM1
lang: en
text: loop-tail-associated protein
lang: en
text: strabismus
lang: en
text: vang, van gogh-like 2
GeneType: Name: gene with protein product
Name: methylenetetrahydrofolate reductase
Symbol: MTHFR
GeneType: Name: gene with protein product
Name: NUAK family kinase 2
Symbol: NUAK2
Synonyms: lang: en
text: FLJ90349
lang: en
text: SNARK
lang: en
text: SNF1/AMP activated protein kinase
GeneType: Name: gene with protein product
Rare disease: Chondrosarcoma (Orphanet code 55880)
Associated genes:
Name: exostosin glycosyltransferase 1
Symbol: EXT1
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: ttv
GeneType: Name: gene with protein product
Rare disease: Hypotrichosis simplex (Orphanet code 55654)
Associated genes:
Name: lanosterol synthase
Symbol: LSS
Synonyms: lang: en
text: OSC
lang: en
text: Oxidosqualene-lanosterol cyclase
GeneType: Name: gene with protein product
Name: lipase H
Symbol: LIPH
Synonyms: lang: en
text: LPDLR
lang: en
text: PLA1B
lang: en
text: mPA-PLA1
lang: en
text: mPA-PLA1alpha
lang: en
text: phospholipase A(1)
GeneType: Name: gene with protein product
Name: APC down-regulated 1
Symbol: APCDD1
Synonyms: lang: en
text: B7323
GeneType: Name: gene with protein product
Name: ribosomal protein L21
Symbol: RPL21
Synonyms: lang: en
text: 60S ribosomal protein L21
lang: en
text: DKFZp686C06101
lang: en
text: FLJ27458
lang: en
text: L21
lang: en
text: MGC104274
lang: en
text: MGC104275
lang: en
text: MGC71252
lang: en
text: eL21
GeneType: Name: gene with protein product
Name: small nuclear ribonucleoprotein polypeptide E
Symbol: SNRPE
Synonyms: lang: en
text: Sm-E
GeneType: Name: gene with protein product
Name: lysophosphatidic acid receptor 6
Symbol: LPAR6
Synonyms: lang: en
text: P2Y5
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: Craniosynostosis-microretrognathia-severe intellectual disability syndrome (Orphanet code 565858)
Associated genes:
Name: protein phosphatase 3 catalytic subunit alpha
Symbol: PPP3CA
Synonyms: lang: en
text: CNA1
lang: en
text: PPP2B
lang: en
text: calcineurin A alpha
lang: en
text: protein phosphatase 2B, catalytic subunit, alpha isoform
GeneType: Name: gene with protein product
Rare disease: Infantile inflammatory bowel disease with neurological involvement (Orphanet code 565788)
Associated genes:
Name: transforming growth factor beta 1
Symbol: TGFB1
Synonyms: lang: en
text: CED
lang: en
text: Camurati-Engelmann disease
lang: en
text: Diaphyseal dysplasia 1, progressive
lang: en
text: TGFbeta
lang: en
text: prepro-transforming growth factor beta-1
GeneType: Name: gene with protein product
Rare disease: Calpain-3-related limb-girdle muscular dystrophy D4 (Orphanet code 565909)
Associated genes:
Name: calpain 3
Symbol: CAPN3
Synonyms: lang: en
text: CANP3
lang: en
text: nCL-1
lang: en
text: p94
GeneType: Name: gene with protein product
Rare disease: Hypoxanthine guanine phosphoribosyltransferase partial deficiency (Orphanet code 79233)
Associated genes:
Name: hypoxanthine phosphoribosyltransferase 1
Symbol: HPRT1
Synonyms: lang: en
text: HGPRT
lang: en
text: Lesch-Nyhan syndrome
lang: en
text: hypoxanthine guanine phosphoribosyl transferase
GeneType: Name: gene with protein product
Rare disease: HJV or HAMP-related hemochromatosis (Orphanet code 79230)
Associated genes:
Name: hemojuvelin BMP co-receptor
Symbol: HJV
Synonyms: lang: en
text: HFE2A
lang: en
text: HJV
lang: en
text: JH
lang: en
text: RGMC
lang: en
text: haemojuvelin
lang: en
text: hemojuvelin
lang: en
text: repulsive guidance molecule c
GeneType: Name: gene with protein product
Name: hepcidin antimicrobial peptide
Symbol: HAMP
Synonyms: lang: en
text: HEPC
lang: en
text: HFE2B
lang: en
text: LEAP-1
lang: en
text: LEAP1
GeneType: Name: gene with protein product
Rare disease: Galactokinase deficiency (Orphanet code 79237)
Associated genes:
Name: galactokinase 1
Symbol: GALK1
GeneType: Name: gene with protein product
Rare disease: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome (Orphanet code 566067)
Associated genes:
Name: CCAAT enhancer binding protein epsilon
Symbol: CEBPE
Synonyms: lang: en
text: CRP1
GeneType: Name: gene with protein product
Rare disease: Crigler-Najjar syndrome type 1 (Orphanet code 79234)
Associated genes:
Name: UDP glucuronosyltransferase family 1 member A1
Symbol: UGT1A1
Synonyms: lang: en
text: UGT1A
GeneType: Name: Disorder-associated locus
Rare disease: Crigler-Najjar syndrome type 2 (Orphanet code 79235)
Associated genes:
Name: UDP glucuronosyltransferase family 1 member A1
Symbol: UGT1A1
Synonyms: lang: en
text: UGT1A
GeneType: Name: Disorder-associated locus
Rare disease: Combined oxidative phosphorylation defect type 39 (Orphanet code 565624)
Associated genes:
Name: GTP dependent ribosome recycling factor mitochondrial 2
Symbol: GFM2
Synonyms: lang: en
text: EF-G2mt
lang: en
text: EFG2
lang: en
text: FLJ21661
lang: en
text: ribosome releasing factor 2
GeneType: Name: gene with protein product
Rare disease: Primary triglyceride deposit cardiomyovasculopathy (Orphanet code 565612)
Associated genes:
Name: patatin like phospholipase domain containing 2
Symbol: PNPLA2
Synonyms: lang: en
text: ATGL
lang: en
text: FP17548
lang: en
text: TTS-2.2
lang: en
text: desnutrin
lang: en
text: iPLA2zeta
GeneType: Name: gene with protein product
Rare disease: 2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet code 79157)
Associated genes:
Name: acyl-CoA dehydrogenase short/branched chain
Symbol: ACADSB
Synonyms: lang: en
text: ACAD7
lang: en
text: SBCAD
GeneType: Name: gene with protein product
Rare disease: Hydroxykynureninuria (Orphanet code 79155)
Associated genes:
Name: kynureninase
Symbol: KYNU
Synonyms: lang: en
text: L-kynurenine hydrolase
GeneType: Name: gene with protein product
Rare disease: 2-aminoadipic 2-oxoadipic aciduria (Orphanet code 79154)
Associated genes:
Name: dehydrogenase E1 and transketolase domain containing 1
Symbol: DHTKD1
Synonyms: lang: en
text: 2-oxoadipate dehydrogenase complex component E1
lang: en
text: CMT2Q
lang: en
text: DKFZP762M115
lang: en
text: E1a
lang: en
text: KIAA1630
lang: en
text: MGC3090
lang: en
text: OADC-E1
lang: en
text: OADH-E1
GeneType: Name: gene with protein product
Rare disease: Disseminated superficial actinic porokeratosis (Orphanet code 79152)
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: solute carrier family 17 member 9
Symbol: SLC17A9
Synonyms: lang: en
text: FLJ23412
lang: en
text: VNUT
GeneType: Name: gene with protein product
Name: mevalonate diphosphate decarboxylase
Symbol: MVD
Synonyms: lang: en
text: MPD
lang: en
text: diphosphomevalonate decarboxylase
lang: en
text: mevalonate pyrophosphate decarboxylase
GeneType: Name: gene with protein product
Name: farnesyl diphosphate synthase
Symbol: FDPS
Synonyms: lang: en
text: farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
GeneType: Name: gene with protein product
Rare disease: Acrokeratosis verruciformis of Hopf (Orphanet code 79151)
Associated genes:
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Symbol: ATP2A2
Synonyms: lang: en
text: SERCA2
lang: en
text: calcium pump 2
lang: en
text: sarcoplasmic/endoplasmic reticulum calcium ATPase 2
GeneType: Name: gene with protein product
Rare disease: Familial progressive hyperpigmentation (Orphanet code 79146)
Associated genes:
Name: KIT ligand
Symbol: KITLG
Synonyms: lang: en
text: DFNA69
lang: en
text: FPH2
lang: en
text: KL-1
lang: en
text: Kitl
lang: en
text: SCF
lang: en
text: SF
lang: en
text: SLF
lang: en
text: familial progressive hyperpigmentation 2
lang: en
text: mast cell growth factor
lang: en
text: steel factor
lang: en
text: stem cell factor
GeneType: Name: gene with protein product
Rare disease: Dowling-Degos disease (Orphanet code 79145)
Associated genes:
Name: presenilin enhancer, gamma-secretase subunit
Symbol: PSENEN
Synonyms: lang: en
text: PEN2
GeneType: Name: gene with protein product
Name: keratin 5
Symbol: KRT5
Synonyms: lang: en
text: CK-5
lang: en
text: KRT5A
GeneType: Name: gene with protein product
Name: protein O-fucosyltransferase 1
Symbol: POFUT1
Synonyms: lang: en
text: FUT12
lang: en
text: GDP-fucose protein O-fucosyltransferase 1
lang: en
text: KIAA0180
lang: en
text: O-FUT
lang: en
text: O-Fuc-T
lang: en
text: Peptide-O-fucosyltransferase
lang: en
text: peptide-O-fucosyltransferase
GeneType: Name: gene with protein product
Name: protein O-glucosyltransferase 1
Symbol: POGLUT1
Synonyms: lang: en
text: 9630046K23Rik
lang: en
text: KDELC family like 1
lang: en
text: KDELCL1
lang: en
text: MDS010
lang: en
text: MDSRP
lang: en
text: MGC32995
lang: en
text: Rumi
lang: en
text: hCLP46
GeneType: Name: gene with protein product
Rare disease: Isobutyryl-CoA dehydrogenase deficiency (Orphanet code 79159)
Associated genes:
Name: acyl-CoA dehydrogenase family member 8
Symbol: ACAD8
Synonyms: lang: en
text: isobutyryl-CoA dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Developmental malformations-deafness-dystonia syndrome (Orphanet code 79107)
Associated genes:
Name: actin beta
Symbol: ACTB
Synonyms: lang: en
text: ß-actin
GeneType: Name: gene with protein product
Rare disease: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha (Orphanet code 566231)
Associated genes:
Name: thyroid hormone receptor alpha
Symbol: THRA
Synonyms: lang: en
text: AR7
lang: en
text: EAR-7.1/EAR-7.2
lang: en
text: ERBA
lang: en
text: NR1A1
lang: en
text: THRA3
lang: en
text: THRalpha
lang: en
text: THRalpha1
lang: en
text: THRalpha2
lang: en
text: TRalpha
lang: en
text: TRalpha1
lang: en
text: TRalpha2
lang: en
text: c-ERBA-1
lang: en
text: c-erbA
lang: en
text: c-erbA protooncogene
lang: en
text: nuclear receptor subfamily 1 group A member 1
GeneType: Name: gene with protein product
Rare disease: Eiken syndrome (Orphanet code 79106)
Associated genes:
Name: parathyroid hormone 1 receptor
Symbol: PTH1R
GeneType: Name: gene with protein product
Rare disease: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (Orphanet code 566243)
Associated genes:
Name: thyroid hormone receptor beta
Symbol: THRB
Synonyms: lang: en
text: ERBA-BETA
lang: en
text: GRTH
lang: en
text: NR1A2
lang: en
text: THR1
lang: en
text: THRB1
lang: en
text: THRB2
lang: en
text: THRbeta
lang: en
text: THRbeta1
lang: en
text: TRb
lang: en
text: TRbeta
lang: en
text: TRbeta1
lang: en
text: Thrbeta2
lang: en
text: avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2
lang: en
text: c-erbA-2
lang: en
text: c-erbA-beta
lang: en
text: generalized resistance to thyroid hormone
lang: en
text: nuclear receptor subfamily 1 group A member 2
lang: en
text: oncogene ERBA2
lang: en
text: thyroid hormone receptor beta 1
GeneType: Name: gene with protein product
Rare disease: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome (Orphanet code 79118)
Associated genes:
Name: GLIS family zinc finger 3
Symbol: GLIS3
Synonyms: lang: en
text: Gli-similar 3
lang: en
text: MGC33662
GeneType: Name: gene with protein product
Rare disease: Acute mast cell leukemia (Orphanet code 566393)
Associated genes:
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Mandibulofacial dysostosis-microcephaly syndrome (Orphanet code 79113)
Associated genes:
Name: elongation factor Tu GTP binding domain containing 2
Symbol: EFTUD2
Synonyms: lang: en
text: 116 kDa U5 small nuclear ribonucleoprotein component
lang: en
text: SNRNP116
lang: en
text: Snrp116
lang: en
text: Snu114
lang: en
text: U5 snRNP specific protein, 116 kD
lang: en
text: U5-116KD
GeneType: Name: gene with protein product
Rare disease: Thyrotoxic periodic paralysis (Orphanet code 79102)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 S
Symbol: CACNA1S
Synonyms: lang: en
text: Cav1.1
lang: en
text: hypoPP
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit alpha3
Symbol: GABRA3
Synonyms: lang: en
text: GABA(A) receptor, alpha 3
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 18
Symbol: KCNJ18
Synonyms: lang: en
text: KIR2.6
lang: en
text: TTPP2
GeneType: Name: gene with protein product
Rare disease: Myxofibrosarcoma (Orphanet code 79105)
Associated genes:
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: cAMP responsive element binding protein 3 like 2
Symbol: CREB3L2
Synonyms: lang: en
text: BBF2 human homolog on chromosome 7
lang: en
text: BBF2H7
lang: en
text: TCAG_1951439
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
Rare disease: Hyperprolinemia type 2 (Orphanet code 79101)
Associated genes:
Name: aldehyde dehydrogenase 4 family member A1
Symbol: ALDH4A1
Synonyms: lang: en
text: Delta-1-pyrroline-5-carboxylate dehydrogenase
lang: en
text: L-glutamate gamma-semialdehyde dehydrogenase
lang: en
text: P5CDh
GeneType: Name: gene with protein product
Rare disease: Congenital autosomal recessive small-platelet thrombocytopenia (Orphanet code 566192)
Associated genes:
Name: FYN binding protein 1
Symbol: FYB1
Synonyms: lang: en
text: ADAP
lang: en
text: FYB-120/130
lang: en
text: SLAP-130
lang: en
text: adhesion and degranulation promoting adaptor protein
GeneType: Name: gene with protein product
Rare disease: Atrophoderma vermiculata (Orphanet code 79100)
Associated genes:
Name: LDL receptor related protein 1
Symbol: LRP1
Synonyms: lang: en
text: APOER
lang: en
text: CD91
lang: en
text: LRP
lang: en
text: LRP1A
lang: en
text: transforming growth factor-alpha receptor type V
GeneType: Name: gene with protein product
Rare disease: Congenital bile acid synthesis defect type 4 (Orphanet code 79095)
Associated genes:
Name: alpha-methylacyl-CoA racemase
Symbol: AMACR
Synonyms: lang: en
text: P504S
lang: en
text: RACE
GeneType: Name: gene with protein product
Rare disease: Grange syndrome (Orphanet code 79094)
Associated genes:
Name: YY1 associated protein 1
Symbol: YY1AP1
Synonyms: lang: en
text: HCCA2
lang: en
text: YAP
lang: en
text: YY1AP
GeneType: Name: gene with protein product
Rare disease: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome (Orphanet code 566175)
Associated genes:
Name: CD55 molecule (Cromer blood group)
Symbol: CD55
Synonyms: lang: en
text: CR
lang: en
text: CROM
lang: en
text: TC
GeneType: Name: gene with protein product