TaoMedAI/RareMedData huggingface dataset:
Rare disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant (Orphanet code 293899)
Associated genes:
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Name: transmembrane protein 43
Symbol: TMEM43
Synonyms: lang: en
text: DKFZp586G1919
lang: en
text: LUMA
lang: en
text: MGC3222
GeneType: Name: gene with protein product
Name: catenin alpha 3
Symbol: CTNNA3
Synonyms: lang: en
text: MGC26194
lang: en
text: VR22
lang: en
text: alpha-T-catenin
GeneType: Name: gene with protein product
Name: desmoglein 2
Symbol: DSG2
Synonyms: lang: en
text: CDHF5
GeneType: Name: gene with protein product
Name: plakophilin 2
Symbol: PKP2
GeneType: Name: gene with protein product
Name: ryanodine receptor 2
Symbol: RYR2
Synonyms: lang: en
text: ARVC2
lang: en
text: VTSIP
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: desmocollin 2
Symbol: DSC2
Synonyms: lang: en
text: CDHF2
GeneType: Name: gene with protein product
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: junction plakoglobin
Symbol: JUP
Synonyms: lang: en
text: DP3
lang: en
text: DPIII
lang: en
text: PDGB
lang: en
text: PG
lang: en
text: PKGB
lang: en
text: desmosomal protein 3
GeneType: Name: gene with protein product
Name: LIM domain binding 3
Symbol: LDB3
Synonyms: lang: en
text: KIAA0613
lang: en
text: PDLIM6
lang: en
text: Z-band alternatively spliced PDZ motif protein
lang: en
text: ZASP
lang: en
text: cypher
lang: en
text: oracle
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: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant (Orphanet code 293888)
Associated genes:
Name: plakophilin 2
Symbol: PKP2
GeneType: Name: gene with protein product
Name: desmocollin 2
Symbol: DSC2
Synonyms: lang: en
text: CDHF2
GeneType: Name: gene with protein product
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Name: transmembrane protein 43
Symbol: TMEM43
Synonyms: lang: en
text: DKFZp586G1919
lang: en
text: LUMA
lang: en
text: MGC3222
GeneType: Name: gene with protein product
Name: ryanodine receptor 2
Symbol: RYR2
Synonyms: lang: en
text: ARVC2
lang: en
text: VTSIP
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: desmoglein 2
Symbol: DSG2
Synonyms: lang: en
text: CDHF5
GeneType: Name: gene with protein product
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: junction plakoglobin
Symbol: JUP
Synonyms: lang: en
text: DP3
lang: en
text: DPIII
lang: en
text: PDGB
lang: en
text: PG
lang: en
text: PKGB
lang: en
text: desmosomal protein 3
GeneType: Name: gene with protein product
Name: LIM domain binding 3
Symbol: LDB3
Synonyms: lang: en
text: KIAA0613
lang: en
text: PDLIM6
lang: en
text: Z-band alternatively spliced PDZ motif protein
lang: en
text: ZASP
lang: en
text: cypher
lang: en
text: oracle
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
Name: catenin alpha 3
Symbol: CTNNA3
Synonyms: lang: en
text: MGC26194
lang: en
text: VR22
lang: en
text: alpha-T-catenin
GeneType: Name: gene with protein product
Rare disease: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome (Orphanet code 293864)
Associated genes:
Name: regulatory factor X6
Symbol: RFX6
Synonyms: lang: en
text: DNA-binding protein RFX6
lang: en
text: MGC33442
lang: en
text: dJ955L16.1
GeneType: Name: gene with protein product
Rare disease: 3MC syndrome (Orphanet code 293843)
Associated genes:
Name: collectin subfamily member 10
Symbol: COLEC10
Synonyms: lang: en
text: CL-10
lang: en
text: CL-L1
GeneType: Name: gene with protein product
Name: MBL associated serine protease 1
Symbol: MASP1
Synonyms: lang: en
text: C4/C2 activating component of Ra-reactive factor
lang: en
text: MAP-1
lang: en
text: MASP
lang: en
text: MASP-3
lang: en
text: Map44
lang: en
text: mannose-binding lectin-associated serine protease 1
GeneType: Name: gene with protein product
Name: collectin subfamily member 11
Symbol: COLEC11
Synonyms: lang: en
text: CL-11
lang: en
text: CL-K1
lang: en
text: Collectin K1
lang: en
text: MGC3279
GeneType: Name: gene with protein product
Rare disease: MITF-related melanoma and renal cell carcinoma predisposition syndrome (Orphanet code 293822)
Associated genes:
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Rare disease: Congenital dyserythropoietic anemia type IV (Orphanet code 293825)
Associated genes:
Name: KLF transcription factor 1
Symbol: KLF1
Synonyms: lang: en
text: EKLF
lang: en
text: erythroid Kruppel-like factor
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-intellectual disability syndrome, MKB type (Orphanet code 293707)
Associated genes:
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Rare disease: PYCR1-related De Barsy syndrome (Orphanet code 293633)
Associated genes:
Name: pyrroline-5-carboxylate reductase 1
Symbol: PYCR1
Synonyms: lang: en
text: P5C
GeneType: Name: gene with protein product
Rare disease: Hypermethioninemia due to glycine N-methyltransferase deficiency (Orphanet code 289891)
Associated genes:
Name: glycine N-methyltransferase
Symbol: GNMT
GeneType: Name: gene with protein product
Rare disease: Atypical glycine encephalopathy (Orphanet code 289863)
Associated genes:
Name: solute carrier family 6 member 9
Symbol: SLC6A9
Synonyms: lang: en
text: GLYT1
lang: en
text: GlyT-1
lang: en
text: Sodium- and chloride-dependent glycine transporter 1
GeneType: Name: gene with protein product
Name: aminomethyltransferase
Symbol: AMT
Synonyms: lang: en
text: GCST
lang: en
text: NKH
lang: en
text: glycine cleavage system protein T
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Name: glycine cleavage system protein H
Symbol: GCSH
Synonyms: lang: en
text: lipoic acid-containing protein
GeneType: Name: gene with protein product
Name: glycine decarboxylase
Symbol: GLDC
Synonyms: lang: en
text: GCSP
lang: en
text: NKH
lang: en
text: glycine cleavage system protein P
lang: en
text: glycine dehydrogenase
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Rare disease: Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet code 289916)
Associated genes:
Name: methylmalonyl-CoA mutase
Symbol: MMUT
Synonyms: lang: en
text: MCM
lang: en
text: Methylmalonyl-CoA mutase, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Neonatal glycine encephalopathy (Orphanet code 289857)
Associated genes:
Name: aminomethyltransferase
Symbol: AMT
Synonyms: lang: en
text: GCST
lang: en
text: NKH
lang: en
text: glycine cleavage system protein T
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Name: glycine cleavage system protein H
Symbol: GCSH
Synonyms: lang: en
text: lipoic acid-containing protein
GeneType: Name: gene with protein product
Name: glycine decarboxylase
Symbol: GLDC
Synonyms: lang: en
text: GCSP
lang: en
text: NKH
lang: en
text: glycine cleavage system protein P
lang: en
text: glycine dehydrogenase
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Rare disease: Infantile glycine encephalopathy (Orphanet code 289860)
Associated genes:
Name: solute carrier family 6 member 9
Symbol: SLC6A9
Synonyms: lang: en
text: GLYT1
lang: en
text: GlyT-1
lang: en
text: Sodium- and chloride-dependent glycine transporter 1
GeneType: Name: gene with protein product
Name: aminomethyltransferase
Symbol: AMT
Synonyms: lang: en
text: GCST
lang: en
text: NKH
lang: en
text: glycine cleavage system protein T
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Name: glycine cleavage system protein H
Symbol: GCSH
Synonyms: lang: en
text: lipoic acid-containing protein
GeneType: Name: gene with protein product
Name: glycine decarboxylase
Symbol: GLDC
Synonyms: lang: en
text: GCSP
lang: en
text: NKH
lang: en
text: glycine cleavage system protein P
lang: en
text: glycine dehydrogenase
lang: en
text: nonketotic hyperglycinemia
GeneType: Name: gene with protein product
Rare disease: Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet code 289846)
Associated genes:
Name: glutathione synthetase
Symbol: GSS
GeneType: Name: gene with protein product
Rare disease: Glutathione synthetase deficiency without 5-oxoprolinuria (Orphanet code 289849)
Associated genes:
Name: glutathione synthetase
Symbol: GSS
GeneType: Name: gene with protein product
Rare disease: Mitochondrial membrane protein-associated neurodegeneration (Orphanet code 289560)
Associated genes:
Name: chromosome 19 open reading frame 12
Symbol: C19ORF12
Synonyms: lang: en
text: DKFZP762D096
lang: en
text: MGC10922
lang: en
text: MPAN
lang: en
text: NBIA4
lang: en
text: membrane protein-associated neurodegeneration
lang: en
text: neurodegeneration with brain iron accumulation 4
GeneType: Name: gene with protein product
Rare disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (Orphanet code 289548)
Associated genes:
Name: cytochrome P450 family 11 subfamily A member 1
Symbol: CYP11A1
Synonyms: lang: en
text: P450SCC
lang: en
text: cholesterol monooxygenase (side-chain-cleaving)
GeneType: Name: gene with protein product
Rare disease: BAP1-related tumor predisposition syndrome (Orphanet code 289539)
Associated genes:
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Rare disease: Hereditary arterial and articular multiple calcification syndrome (Orphanet code 289601)
Associated genes:
Name: 5'-nucleotidase ecto
Symbol: NT5E
Synonyms: lang: en
text: CALJA
lang: en
text: CD73
lang: en
text: eN
lang: en
text: eNT
GeneType: Name: gene with protein product
Rare disease: Exfoliative ichthyosis (Orphanet code 289586)
Associated genes:
Name: serpin family B member 8
Symbol: SERPINB8
Synonyms: lang: en
text: CAP2
lang: en
text: cytoplasmic antiproteinase 2
GeneType: Name: gene with protein product
Name: cystatin A
Symbol: CSTA
Synonyms: lang: en
text: stefin A
GeneType: Name: gene with protein product
Rare disease: Epithelial recurrent erosion dystrophy (Orphanet code 293381)
Associated genes:
Name: collagen type XVII alpha 1 chain
Symbol: COL17A1
Synonyms: lang: en
text: BP180
GeneType: Name: gene with protein product
Rare disease: Congenital hereditary endothelial dystrophy type II (Orphanet code 293603)
Associated genes:
Name: solute carrier family 4 member 11
Symbol: SLC4A11
Synonyms: lang: en
text: BTR1
lang: en
text: FECD4
lang: en
text: NaBC1
lang: en
text: bicarbonate transporter related protein 1
lang: en
text: dJ794I6.2
lang: en
text: sodium-coupled borate cotransporter 1
GeneType: Name: gene with protein product
Rare disease: Shwachman-Diamond syndrome (Orphanet code 811)
Associated genes:
Name: SBDS ribosome maturation factor
Symbol: SBDS
Synonyms: lang: en
text: CGI-97
lang: en
text: FLJ10917
lang: en
text: SDO1
lang: en
text: SDS
lang: en
text: SWDS
GeneType: Name: gene with protein product
Name: elongation factor like GTPase 1
Symbol: EFL1
Synonyms: lang: en
text: FAM42A
lang: en
text: FLJ13119
lang: en
text: HsT19294
lang: en
text: RIA1
lang: en
text: ribosome assembly 1 homolog (yeast)
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C21
Symbol: DNAJC21
Synonyms: lang: en
text: DNAJA5
lang: en
text: GS3
lang: en
text: JJJ1
lang: en
text: JJJ1 DnaJ domain protein homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Rare disease: Familial clubfoot due to PITX1 point mutation (Orphanet code 293150)
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: Familial mitral valve prolapse (Orphanet code 741)
Associated genes:
Name: dachsous cadherin-related 1
Symbol: DCHS1
Synonyms: lang: en
text: CDHR6
lang: en
text: FIB1
lang: en
text: FLJ11790
lang: en
text: KIAA1773
lang: en
text: cadherin-related family member 6
GeneType: Name: gene with protein product
Rare disease: Familial clubfoot due to 5q31 microdeletion (Orphanet code 293144)
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: Infantile-onset ascending hereditary spastic paralysis (Orphanet code 293168)
Associated genes:
Name: alsin Rho guanine nucleotide exchange factor ALS2
Symbol: ALS2
Synonyms: lang: en
text: alsin
GeneType: Name: gene with protein product
Rare disease: Skin fragility-woolly hair-palmoplantar keratoderma syndrome (Orphanet code 293165)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant hypocalcemia (Orphanet code 428)
Associated genes:
Name: calcium sensing receptor
Symbol: CASR
Synonyms: lang: en
text: FHH
lang: en
text: GPRC2A
lang: en
text: NSHPT
lang: en
text: severe neonatal hyperparathyroidism
GeneType: Name: gene with protein product
Name: G protein subunit alpha 11
Symbol: GNA11
Synonyms: lang: en
text: FBH
lang: en
text: FBH2
lang: en
text: FHH2
GeneType: Name: gene with protein product
Rare disease: Malignant migrating focal seizures of infancy (Orphanet code 293181)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class A
Symbol: PIGA
Synonyms: lang: en
text: GPI3
lang: en
text: GPI3 (SPT14) homolog (S. cerevisiae)
lang: en
text: PIG-A
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
lang: en
text: paroxysmal nocturnal hemoglobinuria
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 22
Symbol: SLC25A22
Synonyms: lang: en
text: EIEE3
lang: en
text: Early infantile epileptic encephalopathy 3
lang: en
text: FLJ13044
lang: en
text: GC-1
lang: en
text: GC1
lang: en
text: NET44
GeneType: Name: gene with protein product
Name: TBC1 domain family member 24
Symbol: TBC1D24
Synonyms: lang: en
text: DFNA65
lang: en
text: KIAA1171
lang: en
text: TBC/LysM-associated domain containing 6
lang: en
text: TLDC6
lang: en
text: deafness, autosomal dominant 65
lang: en
text: skywalker homolog (Drosophila)
GeneType: Name: gene with protein product
Name: phospholipase C beta 1
Symbol: PLCB1
Synonyms: lang: en
text: KIAA0581
lang: en
text: PLC-I
lang: en
text: PLC154
lang: en
text: phosphoinositide phospholipase C
GeneType: Name: gene with protein product
Name: potassium sodium-activated channel subfamily T member 1
Symbol: KCNT1
Synonyms: lang: en
text: KCa4.1
lang: en
text: KIAA1422
lang: en
text: SLACK
lang: en
text: Sequence like a calcium-activated K+ channel
lang: en
text: Slo2.2
GeneType: Name: gene with protein product
Name: solute carrier family 12 member 5
Symbol: SLC12A5
Synonyms: lang: en
text: K-Cl cotransporter 2
lang: en
text: KCC2
lang: en
text: KIAA1176
lang: en
text: hKCC2
GeneType: Name: gene with protein product
Rare disease: Pleomorphic rhabdomyosarcoma (Orphanet code 293199)
Associated genes:
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Rare disease: 46,XX testicular difference of sex development (Orphanet code 393)
Associated genes:
Name: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Name: sex determining region Y
Symbol: SRY
Synonyms: lang: en
text: TDF
lang: en
text: testis-determining factor
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 3
Symbol: SOX3
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 0 group B member 1
Symbol: NR0B1
Synonyms: lang: en
text: AHCH
lang: en
text: DAX1
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 5 group A member 1
Symbol: NR5A1
Synonyms: lang: en
text: AD4BP
lang: en
text: ELP
lang: en
text: FTZ1
lang: en
text: SF-1
lang: en
text: SF1
lang: en
text: hSF-1
lang: en
text: steroidogenic factor 1
GeneType: Name: gene with protein product
Rare disease: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (Orphanet code 293284)
Associated genes:
Name: phenylalanine hydroxylase
Symbol: PAH
Synonyms: lang: en
text: PH
lang: en
text: phenylalanine 4-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase E3 deficiency (Orphanet code 2394)
Associated genes:
Name: dihydrolipoamide dehydrogenase
Symbol: DLD
Synonyms: lang: en
text: DLDH
lang: en
text: E3
lang: en
text: E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
lang: en
text: OGDC-E3
GeneType: Name: gene with protein product
Rare disease: Cyclic neutropenia (Orphanet code 2686)
Associated genes:
Name: elastase, neutrophil expressed
Symbol: ELANE
Synonyms: lang: en
text: HLE
lang: en
text: HNE
lang: en
text: NE
lang: en
text: PMN Elastase
lang: en
text: PMN-E
lang: en
text: leukocyte elastase
lang: en
text: medullasin
lang: en
text: neutrophil elastase
lang: en
text: polymorphonuclear leukocyte elastase
GeneType: Name: gene with protein product
Rare disease: Glycerol kinase deficiency, adult form (Orphanet code 284414)
Associated genes:
Name: glycerol kinase
Symbol: GK
Synonyms: lang: en
text: GK1
lang: en
text: GKD
GeneType: Name: gene with protein product
Rare disease: Phosphoserine aminotransferase deficiency, infantile/juvenile form (Orphanet code 284417)
Associated genes:
Name: phosphoserine aminotransferase 1
Symbol: PSAT1
Synonyms: lang: en
text: PSA
lang: en
text: PSAT
lang: en
text: phosphoserine transaminase
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (Orphanet code 284426)
Associated genes:
Name: lactate dehydrogenase A
Symbol: LDHA
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (Orphanet code 284435)
Associated genes:
Name: lactate dehydrogenase B
Symbol: LDHB
GeneType: Name: gene with protein product
Rare disease: Marfan syndrome type 2 (Orphanet code 284973)
Associated genes:
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: Marfan syndrome type 1 (Orphanet code 284963)
Associated genes:
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
Rare disease: Aneurysm-osteoarthritis syndrome (Orphanet code 284984)
Associated genes:
Name: SMAD family member 3
Symbol: SMAD3
Synonyms: lang: en
text: HsT17436
lang: en
text: JV15-2
GeneType: Name: gene with protein product
Rare disease: Neonatal Marfan syndrome (Orphanet code 284979)
Associated genes:
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
Rare disease: Familial vesicoureteral reflux (Orphanet code 289365)
Associated genes:
Name: tenascin XB
Symbol: TNXB
Synonyms: lang: en
text: HXBL
lang: en
text: Hexabrachion-like protein
lang: en
text: TN-X
lang: en
text: TNX
lang: en
text: TNXBS
lang: en
text: XB
lang: en
text: XBS
lang: en
text: tenascin-X
GeneType: Name: gene with protein product
Name: roundabout guidance receptor 2
Symbol: ROBO2
Synonyms: lang: en
text: KIAA1568
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 17
Symbol: SOX17
GeneType: Name: gene with protein product
Rare disease: Early-onset myopathy with fatal cardiomyopathy (Orphanet code 289377)
Associated genes:
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Rare disease: Myosclerosis (Orphanet code 289380)
Associated genes:
Name: collagen type VI alpha 2 chain
Symbol: COL6A2
GeneType: Name: gene with protein product
Rare disease: Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet code 289290)
Associated genes:
Name: adenosine kinase
Symbol: ADK
Synonyms: lang: en
text: AK
lang: en
text: Adenosine 5'-phosphotransferase
lang: en
text: adenosine 5'-phosphotransferase
GeneType: Name: gene with protein product
Rare disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (Orphanet code 289266)
Associated genes:
Name: glutamate ionotropic receptor NMDA type subunit 2A
Symbol: GRIN2A
Synonyms: lang: en
text: GluN2A
lang: en
text: NR2A
GeneType: Name: gene with protein product
Rare disease: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (Orphanet code 289307)
Associated genes:
Name: aldehyde dehydrogenase 6 family member A1
Symbol: ALDH6A1
Synonyms: lang: en
text: malonate-semialdehyde dehydrogenase (acetylating)
GeneType: Name: gene with protein product
Rare disease: Combined malonic and methylmalonic acidemia (Orphanet code 289504)
Associated genes:
Name: acyl-CoA synthetase family member 3
Symbol: ACSF3
Synonyms: lang: en
text: malonyl-CoA synthetase
GeneType: Name: gene with protein product