TaoMedAI/RareMedData huggingface dataset:
Rare disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome (Orphanet code 363444)
Associated genes:
Name: THO complex subunit 6
Symbol: THOC6
Synonyms: lang: en
text: MGC2655
lang: en
text: fSAP35
lang: en
text: functional spliceosome-associated protein 35
GeneType: Name: gene with protein product
Rare disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (Orphanet code 363454)
Associated genes:
Name: BICD cargo adaptor 2
Symbol: BICD2
Synonyms: lang: en
text: KIAA0699
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to IL21R deficiency (Orphanet code 357329)
Associated genes:
Name: interleukin 21 receptor
Symbol: IL21R
Synonyms: lang: en
text: CD360
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to CARD11 deficiency (Orphanet code 357237)
Associated genes:
Name: caspase recruitment domain family member 11
Symbol: CARD11
Synonyms: lang: en
text: BIMP3
lang: en
text: CARMA1
lang: en
text: bcl10-interacting maguk protein 3
lang: en
text: card-maguk protein 1
GeneType: Name: gene with protein product
Rare disease: D,L-2-hydroxyglutaric aciduria (Orphanet code 356978)
Associated genes:
Name: solute carrier family 25 member 1
Symbol: SLC25A1
Synonyms: lang: en
text: CIC
lang: en
text: CTP
lang: en
text: Tricarboxylate transport protein, mitochondrial
lang: en
text: citrate isocitrate carrier
lang: en
text: citrate transport protein
GeneType: Name: gene with protein product
Rare disease: SLC35A2-CDG (Orphanet code 356961)
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: Hemolytic uremic syndrome with DGKE deficiency (Orphanet code 357008)
Associated genes:
Name: diacylglycerol kinase epsilon
Symbol: DGKE
Synonyms: lang: en
text: DAGK6
lang: en
text: DGK
GeneType: Name: gene with protein product
Rare disease: ANK3-related intellectual disability-sleep disturbance syndrome (Orphanet code 356996)
Associated genes:
Name: ankyrin 3
Symbol: ANK3
Synonyms: lang: en
text: ankyrin-3, node of Ranvier
lang: en
text: ankyrin-G
GeneType: Name: gene with protein product
Rare disease: Amyotrophic lateral sclerosis type 4 (Orphanet code 357043)
Associated genes:
Name: senataxin
Symbol: SETX
Synonyms: lang: en
text: AOA2
lang: en
text: KIAA0625
lang: en
text: STEX
lang: en
text: Sen1
GeneType: Name: gene with protein product
Rare disease: Non-hereditary retinoblastoma (Orphanet code 357034)
Associated genes:
Name: RB transcriptional corepressor 1
Symbol: RB1
Synonyms: lang: en
text: PPP1R130
lang: en
text: RB
lang: en
text: prepro-retinoblastoma-associated protein
lang: en
text: protein phosphatase 1, regulatory subunit 130
GeneType: Name: gene with protein product
Name: MYCN proto-oncogene, bHLH transcription factor
Symbol: MYCN
Synonyms: lang: en
text: MYCNOT
lang: en
text: N-myc
lang: en
text: bHLHe37
GeneType: Name: gene with protein product
Rare disease: Hereditary retinoblastoma (Orphanet code 357027)
Associated genes:
Name: RB transcriptional corepressor 1
Symbol: RB1
Synonyms: lang: en
text: PPP1R130
lang: en
text: RB
lang: en
text: prepro-retinoblastoma-associated protein
lang: en
text: protein phosphatase 1, regulatory subunit 130
GeneType: Name: gene with protein product
Name: MYCN proto-oncogene, bHLH transcription factor
Symbol: MYCN
Synonyms: lang: en
text: MYCNOT
lang: en
text: N-myc
lang: en
text: bHLHe37
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cutis laxa type 2, classic type (Orphanet code 357074)
Associated genes:
Name: ATPase H+ transporting V1 subunit E1
Symbol: ATP6V1E1
Synonyms: lang: en
text: ATP6E2
lang: en
text: P31
lang: en
text: V-ATPase subunit E1
lang: en
text: Vma4
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V1 subunit A
Symbol: ATP6V1A
Synonyms: lang: en
text: V-ATPase subunit A
lang: en
text: V-type proton ATPase (V-ATPase) catalytic subunit A
lang: en
text: VA68
lang: en
text: Vma1
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V0 subunit a2
Symbol: ATP6V0A2
Synonyms: lang: en
text: ATP6N1D
lang: en
text: ATP6a2
lang: en
text: J6B7
lang: en
text: RTF
lang: en
text: Stv1
lang: en
text: TJ6
lang: en
text: TJ6M
lang: en
text: TJ6s
lang: en
text: V-ATPase subunit a2
lang: en
text: V-type proton ATPase 116 kDa subunit a2
lang: en
text: Vph1
lang: en
text: a2
lang: en
text: a2V
lang: en
text: regeneration and tolerance factor
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cutis laxa type 2B (Orphanet code 357064)
Associated genes:
Name: pyrroline-5-carboxylate reductase 1
Symbol: PYCR1
Synonyms: lang: en
text: P5C
GeneType: Name: gene with protein product
Rare disease: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome (Orphanet code 352654)
Associated genes:
Name: ubiquitin C-terminal hydrolase L1
Symbol: UCHL1
Synonyms: lang: en
text: PGP9.5
lang: en
text: UCHL-1
lang: en
text: Uch-L1
lang: en
text: ubiquitin thiolesterase
GeneType: Name: gene with protein product
Rare disease: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (Orphanet code 352662)
Associated genes:
Name: NLR family pyrin domain containing 1
Symbol: NLRP1
Synonyms: lang: en
text: CARD7
lang: en
text: CLR17.1
lang: en
text: DEFCAP
lang: en
text: DKFZp586O1822
lang: en
text: KIAA0926
lang: en
text: NAC
lang: en
text: VAMAS1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia with late-onset spasticity (Orphanet code 352641)
Associated genes:
Name: glucosylceramidase beta 2
Symbol: GBA2
Synonyms: lang: en
text: AD035
lang: en
text: Bile acid beta-glucosidase
lang: en
text: DKFZp762K054
lang: en
text: KIAA1605
lang: en
text: Non-lysosomal glucosylceramidase
lang: en
text: bile acid beta-glucosidase
lang: en
text: glucocerebrosidase 2
lang: en
text: non-lysosomal glucosylceramidase
GeneType: Name: gene with protein product
Rare disease: Brain dopamine-serotonin vesicular transport disease (Orphanet code 352649)
Associated genes:
Name: solute carrier family 18 member A2
Symbol: SLC18A2
Synonyms: lang: en
text: SVAT
lang: en
text: SVMT
lang: en
text: Synaptic vesicular amine transporter
lang: en
text: VAT2
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy with dystonia (Orphanet code 352596)
Associated genes:
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
Rare disease: Bainbridge-Ropers syndrome (Orphanet code 352577)
Associated genes:
Name: ASXL transcriptional regulator 3
Symbol: ASXL3
GeneType: Name: gene with protein product
Rare disease: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation (Orphanet code 352587)
Associated genes:
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
Rare disease: Familial infantile myoclonic epilepsy (Orphanet code 352582)
Associated genes:
Name: complexin 1
Symbol: CPLX1
Synonyms: lang: en
text: CPX-I
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
Rare disease: Minimal pigment oculocutaneous albinism type 1 (Orphanet code 352734)
Associated genes:
Name: tyrosinase
Symbol: TYR
Synonyms: lang: en
text: OCA1
lang: en
text: OCA1A
lang: en
text: OCAIA
lang: en
text: oculocutaneous albinism IA
GeneType: Name: gene with protein product
Rare disease: Temperature-sensitive oculocutaneous albinism type 1 (Orphanet code 352737)
Associated genes:
Name: tyrosinase
Symbol: TYR
Synonyms: lang: en
text: OCA1
lang: en
text: OCA1A
lang: en
text: OCAIA
lang: en
text: oculocutaneous albinism IA
GeneType: Name: gene with protein product
Rare disease: CLN13 disease (Orphanet code 352709)
Associated genes:
Name: cathepsin F
Symbol: CTSF
Synonyms: lang: en
text: CATSF
lang: en
text: CLN13
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome (Orphanet code 352712)
Associated genes:
Name: DNA polymerase epsilon, catalytic subunit
Symbol: POLE
Synonyms: lang: en
text: DNA polymerase epsilon catalytic subunit A
lang: en
text: POLE1
GeneType: Name: gene with protein product
Rare disease: Progressive retinal dystrophy due to retinol transport defect (Orphanet code 352718)
Associated genes:
Name: retinol binding protein 4
Symbol: RBP4
GeneType: Name: gene with protein product
Rare disease: Attenuated Chédiak-Higashi syndrome (Orphanet code 352723)
Associated genes:
Name: lysosomal trafficking regulator
Symbol: LYST
Synonyms: lang: en
text: CHS
lang: en
text: Mauve
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion (Orphanet code 352665)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein K
Symbol: HNRNPK
Synonyms: lang: en
text: CSBP
lang: en
text: TUNP
lang: en
text: transformation upregulated nuclear protein
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (Orphanet code 352670)
Associated genes:
Name: G protein subunit beta 4
Symbol: GNB4
Synonyms: lang: en
text: Guanine nucleotide-binding protein subunit beta-4
lang: en
text: transducin beta chain 4
GeneType: Name: gene with protein product
Rare disease: X-linked Charcot-Marie-Tooth disease type 6 (Orphanet code 352675)
Associated genes:
Name: pyruvate dehydrogenase kinase 3
Symbol: PDK3
GeneType: Name: gene with protein product
Rare disease: Cobblestone lissencephaly without muscular or ocular involvement (Orphanet code 352682)
Associated genes:
Name: laminin subunit beta 1
Symbol: LAMB1
GeneType: Name: gene with protein product
Rare disease: Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet code 353277)
Associated genes:
Name: CREB binding protein
Symbol: CREBBP
Synonyms: lang: en
text: CBP
lang: en
text: KAT3A
lang: en
text: RTS
GeneType: Name: gene with protein product
Rare disease: Familial primary localized cutaneous amyloidosis (Orphanet code 353220)
Associated genes:
Name: oncostatin M receptor
Symbol: OSMR
Synonyms: lang: en
text: OSMRB
lang: en
text: OSMRbeta
lang: en
text: Oncostatin-M-specific receptor subunit beta
GeneType: Name: gene with protein product
Name: interleukin 31 receptor A
Symbol: IL31RA
Synonyms: lang: en
text: CRL
lang: en
text: CRL3
lang: en
text: GLM-R
lang: en
text: Glmr
lang: en
text: IL-31RA
GeneType: Name: gene with protein product
Rare disease: Epileptic encephalopathy with global cerebral demyelination (Orphanet code 353217)
Associated genes:
Name: solute carrier family 25 member 12
Symbol: SLC25A12
Synonyms: lang: en
text: AGC1
lang: en
text: Aralar
lang: en
text: Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial
lang: en
text: aralar1
lang: en
text: aspartate/glutamate carrier 1
GeneType: Name: gene with protein product
Rare disease: Oculocutaneous albinism type 7 (Orphanet code 352745)
Associated genes:
Name: leucine rich melanocyte differentiation associated
Symbol: LRMDA
Synonyms: lang: en
text: CDA017
lang: en
text: OCA7
lang: en
text: oculocutaneous albinism 7, autosomal recessive
GeneType: Name: gene with protein product
Rare disease: Pyruvate carboxylase deficiency, benign type (Orphanet code 353320)
Associated genes:
Name: pyruvate carboxylase
Symbol: PC
Synonyms: lang: en
text: PCB
GeneType: Name: gene with protein product
Rare disease: Congenital myasthenic syndromes with glycosylation defect (Orphanet code 353327)
Associated genes:
Name: ALG2 alpha-1,3/1,6-mannosyltransferase
Symbol: ALG2
Synonyms: lang: en
text: CDG1I
lang: en
text: CDGIi
lang: en
text: FLJ14511
lang: en
text: NET38
lang: en
text: hALPG2
GeneType: Name: gene with protein product
Name: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Symbol: DPAGT1
Synonyms: lang: en
text: ALG7
lang: en
text: CDG-Ij
lang: en
text: D11S366
lang: en
text: DGPT
lang: en
text: GPT
lang: en
text: GlcNAc-1-P transferase 1
lang: en
text: UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
GeneType: Name: gene with protein product
Name: glutamine--fructose-6-phosphate transaminase 1
Symbol: GFPT1
Synonyms: lang: en
text: GFA
lang: en
text: GFAT
lang: en
text: GFAT1
GeneType: Name: gene with protein product
Name: ALG14 UDP-N-acetylglucosaminyltransferase subunit
Symbol: ALG14
Synonyms: lang: en
text: MGC19780
GeneType: Name: gene with protein product
Name: GDP-mannose pyrophosphorylase B
Symbol: GMPPB
Synonyms: lang: en
text: KIAA1851
lang: en
text: mannose-1-phosphate guanyltransferase beta
GeneType: Name: gene with protein product
Rare disease: Pyruvate carboxylase deficiency, infantile type (Orphanet code 353308)
Associated genes:
Name: pyruvate carboxylase
Symbol: PC
Synonyms: lang: en
text: PCB
GeneType: Name: gene with protein product
Rare disease: Pyruvate carboxylase deficiency, severe neonatal type (Orphanet code 353314)
Associated genes:
Name: pyruvate carboxylase
Symbol: PC
Synonyms: lang: en
text: PCB
GeneType: Name: gene with protein product
Rare disease: Roifman syndrome (Orphanet code 353298)
Associated genes:
Name: RNA, U4atac small nuclear
Symbol: RNU4ATAC
Synonyms: lang: en
text: RNU4ATAC1
lang: en
text: U4atac
lang: en
text: U4atac snRNA
GeneType: Name: Non-coding RNA
Rare disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet code 353281)
Associated genes:
Name: CREB binding protein
Symbol: CREBBP
Synonyms: lang: en
text: CBP
lang: en
text: KAT3A
lang: en
text: RTS
GeneType: Name: gene with protein product
Rare disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet code 353284)
Associated genes:
Name: E1A binding protein p300
Symbol: EP300
Synonyms: lang: en
text: KAT3B
lang: en
text: histone acetyltransferase p300
lang: en
text: p300
GeneType: Name: gene with protein product
Rare disease: Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet code 352403)
Associated genes:
Name: spectrin beta, non-erythrocytic 2
Symbol: SPTBN2
GeneType: Name: gene with protein product
Rare disease: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome (Orphanet code 352333)
Associated genes:
Name: ELOVL fatty acid elongase 4
Symbol: ELOVL4
Synonyms: lang: en
text: CT118
lang: en
text: cancer/testis antigen 118
GeneType: Name: gene with protein product
Rare disease: MEGDEL syndrome (Orphanet code 352328)
Associated genes:
Name: serine active site containing 1
Symbol: SERAC1
Synonyms: lang: en
text: FLJ14917
GeneType: Name: gene with protein product
Rare disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome (Orphanet code 352447)
Associated genes:
Name: mitochondrial genome maintenance exonuclease 1
Symbol: MGME1
Synonyms: lang: en
text: DDK1
lang: en
text: bA504H3.4
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (Orphanet code 352530)
Associated genes:
Name: trafficking protein particle complex subunit 9
Symbol: TRAPPC9
Synonyms: lang: en
text: IKBKBBP
lang: en
text: KIAA1882
lang: en
text: MRT13
lang: en
text: NIBP
lang: en
text: T1
lang: en
text: TRAPP 120 kDa subunit
lang: en
text: TRS120
lang: en
text: tularik gene 1
GeneType: Name: gene with protein product
Rare disease: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (Orphanet code 352563)
Associated genes:
Name: mitochondrial ribosomal protein L44
Symbol: MRPL44
Synonyms: lang: en
text: 39S ribosomal protein L44, mitochondrial
lang: en
text: FLJ12701
lang: en
text: FLJ13990
lang: en
text: mL44
GeneType: Name: gene with protein product
Rare disease: ISPD-related limb-girdle muscular dystrophy R20 (Orphanet code 352479)
Associated genes:
Name: CDP-L-ribitol pyrophosphorylase A
Symbol: CRPPA
Synonyms: lang: en
text: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
lang: en
text: D-ribitol-5-phosphate cytidylyltransferase
lang: en
text: IspD
lang: en
text: Nip
lang: en
text: Notch1-induced protein
lang: en
text: hCG_1745121
lang: en
text: notch1-induced protein
GeneType: Name: gene with protein product
Rare disease: DNA2-related mitochondrial DNA deletion syndrome (Orphanet code 352470)
Associated genes:
Name: DNA replication helicase/nuclease 2
Symbol: DNA2
Synonyms: lang: en
text: KIAA0083
GeneType: Name: gene with protein product
Rare disease: Autism spectrum disorder due to AUTS2 deficiency (Orphanet code 352490)
Associated genes:
Name: activator of transcription and developmental regulator AUTS2
Symbol: AUTS2
Synonyms: lang: en
text: FBRSL2
lang: en
text: KIAA0442
GeneType: Name: gene with protein product
Rare disease: Renal-hepatic-pancreatic dysplasia (Orphanet code 294415)
Associated genes:
Name: nephrocystin 3
Symbol: NPHP3
Synonyms: lang: en
text: CFAP31
lang: en
text: FLJ30691
lang: en
text: FLJ36696
lang: en
text: KIAA2000
lang: en
text: MKS7
lang: en
text: Meckel syndrome, type 7
lang: en
text: NPH3
lang: en
text: SLSN3
lang: en
text: cilia and flagella associated protein 31
GeneType: Name: gene with protein product
Name: NIMA related kinase 8
Symbol: NEK8
Synonyms: lang: en
text: NPHP9
GeneType: Name: gene with protein product
Rare disease: Microcephaly-capillary malformation syndrome (Orphanet code 294016)
Associated genes:
Name: STAM binding protein
Symbol: STAMBP
Synonyms: lang: en
text: AMSH
GeneType: Name: gene with protein product
Rare disease: Neonatal inflammatory skin and bowel disease (Orphanet code 294023)
Associated genes:
Name: epidermal growth factor receptor
Symbol: EGFR
Synonyms: lang: en
text: ERBB1
lang: en
text: ERRP
lang: en
text: erb-b2 receptor tyrosine kinase 1
lang: en
text: erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
GeneType: Name: gene with protein product
Name: ADAM metallopeptidase domain 17
Symbol: ADAM17
Synonyms: lang: en
text: CD156B
lang: en
text: TNF-alpha convertase enzyme
lang: en
text: a disintegrin and metalloproteinase 17
lang: en
text: cSVP
lang: en
text: cartilage snake venom-like protease
GeneType: Name: gene with protein product
Rare disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (Orphanet code 293964)
Associated genes:
Name: AKT serine/threonine kinase 2
Symbol: AKT2
Synonyms: lang: en
text: PKBß
GeneType: Name: gene with protein product
Rare disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome (Orphanet code 293978)
Associated genes:
Name: nuclear factor kappa B subunit 2
Symbol: NFKB2
Synonyms: lang: en
text: LYT-10
lang: en
text: NF-kB2
lang: en
text: p105
lang: en
text: p49/p100
lang: en
text: p52
GeneType: Name: gene with protein product
Rare disease: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet code 293955)
Associated genes:
Name: thiamin pyrophosphokinase 1
Symbol: TPK1
Synonyms: lang: en
text: HTPK1
lang: en
text: PP20
lang: en
text: Placental protein 20
lang: en
text: Thiamine diphosphokinase
lang: en
text: Thiamine kinase
lang: en
text: Thiamine pyrophosphokinase 1
lang: en
text: placental protein 20
lang: en
text: thiamine diphosphokinase
lang: en
text: thiamine kinase
lang: en
text: thiamine pyrophosphokinase 1
GeneType: Name: gene with protein product
Rare disease: 1p21.3 microdeletion syndrome (Orphanet code 293948)
Associated genes:
Name: dihydropyrimidine dehydrogenase
Symbol: DPYD
Synonyms: lang: en
text: DHPDHase
lang: en
text: DPD
lang: en
text: Dihydrothymine dehydrogenase
lang: en
text: Dihydrouracil dehydrogenase
GeneType: Name: gene with protein product
Rare disease: EDICT syndrome (Orphanet code 293936)
Associated genes:
Name: microRNA 184
Symbol: MIR184
Synonyms: lang: en
text: hsa-mir-184
GeneType: Name: Non-coding RNA
Rare disease: Lethal occipital encephalocele-skeletal dysplasia syndrome (Orphanet code 293925)
Associated genes:
Name: cytochrome P450 family 26 subfamily B member 1
Symbol: CYP26B1
Synonyms: lang: en
text: P450RAI-2
GeneType: Name: gene with protein product
Rare disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant (Orphanet code 293910)
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: 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: 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: 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: cadherin 2
Symbol: CDH2
Synonyms: lang: en
text: CD325
lang: en
text: CDHN
lang: en
text: N-cadherin
GeneType: Name: gene with protein product