Rare disease: Familial isolated dilated cardiomyopathy (Orphanet code 154)
Associated genes:
Name: TATA-box binding protein associated factor, RNA polymerase I subunit A
Symbol: TAF1A
Synonyms: lang: en
text: SL1
lang: en
text: TAFI48
GeneType: Name: gene with protein product
Name: guided entry of tail-anchored proteins factor 3, ATPase
Symbol: GET3
GeneType: Name: gene with protein product
Name: vascular endothelial zinc finger 1
Symbol: VEZF1
Synonyms: lang: en
text: DB1
GeneType: Name: gene with protein product
Name: ribosomal protein L3 like
Symbol: RPL3L
GeneType: Name: gene with protein product
Name: myosin binding protein C3
Symbol: MYBPC3
Synonyms: lang: en
text: FHC
lang: en
text: MYBP-C
lang: en
text: cMyBP-C
GeneType: Name: gene with protein product
Name: junctophilin 2
Symbol: JPH2
Synonyms: lang: en
text: JP-2
lang: en
text: JP2
lang: en
text: junctophilin2
GeneType: Name: gene with protein product
Name: phosphopantothenoylcysteine synthetase
Symbol: PPCS
Synonyms: lang: en
text: FLJ11838
GeneType: Name: gene with protein product
Name: cyclase associated actin cytoskeleton regulatory protein 2
Symbol: CAP2
GeneType: Name: gene with protein product
Name: leiomodin 2
Symbol: LMOD2
Synonyms: lang: en
text: C-Lmod
lang: en
text: cardiac leiomodin
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily C member 9
Symbol: ABCC9
Synonyms: lang: en
text: CMD1O
lang: en
text: SUR2
lang: en
text: sulfonylurea receptor 2
GeneType: Name: gene with protein product
Name: actin alpha cardiac muscle 1
Symbol: ACTC1
Synonyms: lang: en
text: CMD1R
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: presenilin 2
Symbol: PSEN2
Synonyms: lang: en
text: AD3L
lang: en
text: Alzheimer disease 3-like
lang: en
text: E5-1
lang: en
text: PS-2
lang: en
text: PS2
lang: en
text: STM2
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 5
Symbol: SCN5A
Synonyms: lang: en
text: CDCD2
lang: en
text: CMPD2
lang: en
text: HB1
lang: en
text: HB2
lang: en
text: HBBD
lang: en
text: HH1
lang: en
text: ICCD
lang: en
text: IVF
lang: en
text: LQT3
lang: en
text: Nav1.5
lang: en
text: PFHB1
lang: en
text: SSS1
lang: en
text: long QT syndrome 3
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex flavoprotein subunit A
Symbol: SDHA
Synonyms: lang: en
text: FP
lang: en
text: SDHF
lang: en
text: flavoprotein subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] flavoprotein subunit
GeneType: Name: gene with protein product
Name: sarcoglycan delta
Symbol: SGCD
Synonyms: lang: en
text: CMD1L
lang: en
text: DAGD
lang: en
text: LGMD2F
GeneType: Name: gene with protein product
Name: tafazzin, phospholipid-lysophospholipid transacylase
Symbol: TAFAZZIN
Synonyms: lang: en
text: BTHS
lang: en
text: Barth syndrome
lang: en
text: G4.5
lang: en
text: TAZ1
lang: en
text: XAP-2
lang: en
text: transcriptional coactivator with PDZ-binding motif
GeneType: Name: gene with protein product
Name: titin-cap
Symbol: TCAP
Synonyms: lang: en
text: 19 kDa sarcomeric protein
lang: en
text: CMD1N
lang: en
text: T-cap
lang: en
text: TELE
lang: en
text: telethonin
lang: en
text: teneurin C-terminal associated peptide
GeneType: Name: gene with protein product
Name: troponin I3, cardiac type
Symbol: TNNI3
Synonyms: lang: en
text: CMH7
lang: en
text: TNNC1
lang: en
text: cTNI
GeneType: Name: gene with protein product
Name: troponin T2, cardiac type
Symbol: TNNT2
Synonyms: lang: en
text: CMPD2
GeneType: Name: gene with protein product
Name: tropomyosin 1
Symbol: TPM1
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: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Name: cysteine and glycine rich protein 3
Symbol: CSRP3
Synonyms: lang: en
text: CLP
lang: en
text: CMD1M
lang: en
text: MLP
lang: en
text: cardiac LIM protein
lang: en
text: muscle LIM protein
GeneType: Name: gene with protein product
Name: desmin
Symbol: DES
Synonyms: lang: en
text: CMD1I
lang: en
text: CSM1
lang: en
text: CSM2
lang: en
text: LGMD2R
lang: en
text: cardiomyopathy, dilated 1I
lang: en
text: intermediate filament protein
GeneType: Name: gene with protein product
Name: dystrophin
Symbol: DMD
Synonyms: lang: en
text: BMD
lang: en
text: DXS142
lang: en
text: DXS164
lang: en
text: DXS206
lang: en
text: DXS230
lang: en
text: DXS239
lang: en
text: DXS268
lang: en
text: DXS269
lang: en
text: DXS270
lang: en
text: DXS272
lang: en
text: muscular dystrophy, Duchenne and Becker types
GeneType: Name: gene with protein product
Name: desmoglein 2
Symbol: DSG2
Synonyms: lang: en
text: CDHF5
GeneType: Name: gene with protein product
Name: fukutin
Symbol: FKTN
Synonyms: lang: en
text: LGMD2M
lang: en
text: Ribitol-5-phosphate transferase
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: dolichol kinase
Symbol: DOLK
Synonyms: lang: en
text: DK1
lang: en
text: KIAA1094
lang: en
text: dolichol kinase 1
GeneType: Name: gene with protein product
Name: myosin heavy chain 6
Symbol: MYH6
Synonyms: lang: en
text: cardiomyopathy, hypertrophic 1
GeneType: Name: gene with protein product
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Name: Raf-1 proto-oncogene, serine/threonine kinase
Symbol: RAF1
Synonyms: lang: en
text: C-Raf proto-oncogene, serine/threonine kinase
lang: en
text: CRAF
lang: en
text: Raf-1
lang: en
text: c-Raf
GeneType: Name: gene with protein product
Name: thymopoietin
Symbol: TMPO
Synonyms: lang: en
text: LAP2
lang: en
text: LEM domain containing 4
lang: en
text: LEMD4
lang: en
text: TP
GeneType: Name: gene with protein product
Name: troponin C1, slow skeletal and cardiac type
Symbol: TNNC1
GeneType: Name: gene with protein product
Name: vinculin
Symbol: VCL
Synonyms: lang: en
text: Metavinculin
lang: en
text: VINC
lang: en
text: metavinculin
GeneType: Name: gene with protein product
Name: actinin alpha 2
Symbol: ACTN2
GeneType: Name: gene with protein product
Name: four and a half LIM domains 2
Symbol: FHL2
Synonyms: lang: en
text: DRAL
lang: en
text: SLIM3
GeneType: Name: gene with protein product
Name: phospholamban
Symbol: PLN
Synonyms: lang: en
text: CMD1P
GeneType: Name: gene with protein product
Name: BAG cochaperone 3
Symbol: BAG3
Synonyms: lang: en
text: BAG family molecular chaperone regulator 3
GeneType: Name: gene with protein product
Name: RNA binding motif protein 20
Symbol: RBM20
GeneType: Name: gene with protein product
Name: nexilin F-actin binding protein
Symbol: NEXN
Synonyms: lang: en
text: NELIN
lang: en
text: nexilin
GeneType: Name: gene with protein product
Name: thioredoxin reductase 2
Symbol: TXNRD2
Synonyms: lang: en
text: SELZ
lang: en
text: Selenoprotein Z
lang: en
text: TR
lang: en
text: TR3
lang: en
text: TRXR2
lang: en
text: TXNR2
lang: en
text: Thioredoxin reductase beta
lang: en
text: selenoprotein Z
lang: en
text: thioredoxin reductase beta
GeneType: Name: gene with protein product
Name: GATA zinc finger domain containing 1
Symbol: GATAD1
Synonyms: lang: en
text: FLJ22489
lang: en
text: ODAG
lang: en
text: Ocular development associated gene
lang: en
text: RG083M05.2
lang: en
text: ocular development associated gene
GeneType: Name: gene with protein product
Name: myopalladin
Symbol: MYPN
Synonyms: lang: en
text: MYOP
lang: en
text: Sarcomeric protein myopalladin, 145 kDa
lang: en
text: sarcomeric protein myopalladin, 145 kDa
GeneType: Name: gene with protein product
Name: laminin subunit alpha 4
Symbol: LAMA4
Synonyms: lang: en
text: LAMA3
GeneType: Name: gene with protein product
Name: PR/SET domain 16
Symbol: PRDM16
Synonyms: lang: en
text: KIAA1675
lang: en
text: KMT8F
lang: en
text: MDS1/EVI1-like
lang: en
text: MEL1
lang: en
text: MGC166915
lang: en
text: PFM13
lang: en
text: PR-domain zinc finger protein 16
lang: en
text: Transcription factor MEL1
lang: en
text: transcription factor MEL1
GeneType: Name: gene with protein product
Name: ankyrin repeat domain 1
Symbol: ANKRD1
Synonyms: lang: en
text: ALRP
lang: en
text: C-193
lang: en
text: CARP
lang: en
text: CVARP
lang: en
text: MCARP
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: 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: heart and neural crest derivatives expressed 2
Symbol: HAND2
Synonyms: lang: en
text: Hed
lang: en
text: Thing2
lang: en
text: bHLHa26
lang: en
text: dHand
GeneType: Name: gene with protein product
Name: BAG cochaperone 5
Symbol: BAG5
GeneType: Name: gene with protein product