Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 8
HPO ID | Term | Frequency |
---|---|---|
HP:0001644 | Dilated cardiomyopathy | Very frequent (99-80%) |
HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
HP:0000982 | Palmoplantar keratoderma | Occasional (29-5%) |
HP:0001874 | Abnormality of neutrophils | Occasional (29-5%) |
HP:0003198 | Myopathy | Occasional (29-5%) |
HP:0003236 | Elevated serum creatine kinase | Occasional (29-5%) |
HP:0003457 | EMG abnormality | Occasional (29-5%) |
HP:0100578 | Lipoatrophy | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 43
Gene Symbol | Gene Name | Entrez Gene ID |
---|---|---|
TAF1A | TATA-box binding protein associated factor, RNA polymerase I subunit A | 9015 |
NEBL | nebulette | 10529 |
PPCS | phosphopantothenoylcysteine synthetase | 79717 |
ABCC9 | ATP binding cassette subfamily C member 9 | 10060 |
ACTC1 | actin alpha cardiac muscle 1 | 70 |
PSEN1 | presenilin 1 | 5663 |
PSEN2 | presenilin 2 | 5664 |
SCN5A | sodium voltage-gated channel alpha subunit 5 | 6331 |
SDHA | succinate dehydrogenase complex flavoprotein subunit A | 6389 |
SGCD | sarcoglycan delta | 6444 |
TAZ | tafazzin | 6901 |
TCAP | titin-cap | 8557 |
TNNI3 | troponin I3, cardiac type | 7137 |
TNNT2 | troponin T2, cardiac type | 7139 |
TPM1 | tropomyosin 1 | 7168 |
TTN | titin | 7273 |
CRYAB | crystallin alpha B | 1410 |
CSRP3 | cysteine and glycine rich protein 3 | 8048 |
DES | desmin | 1674 |
DMD | dystrophin | 1756 |
DSG2 | desmoglein 2 | 1829 |
FKTN | fukutin | 2218 |
LDB3 | LIM domain binding 3 | 11155 |
DOLK | dolichol kinase | 22845 |
MYBPC3 | myosin binding protein C, cardiac | 4607 |
MYH6 | myosin heavy chain 6 | 4624 |
MYH7 | myosin heavy chain 7 | 4625 |
RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | 5894 |
TMPO | thymopoietin | 7112 |
TNNC1 | troponin C1, slow skeletal and cardiac type | 7134 |
VCL | vinculin | 7414 |
ACTN2 | actinin alpha 2 | 88 |
FHL2 | four and a half LIM domains 2 | 2274 |
PLN | phospholamban | 5350 |
BAG3 | BCL2 associated athanogene 3 | 9531 |
RBM20 | RNA binding motif protein 20 | 282996 |
NEXN | nexilin F-actin binding protein | 91624 |
TXNRD2 | thioredoxin reductase 2 | 10587 |
GATAD1 | GATA zinc finger domain containing 1 | 57798 |
MYPN | myopalladin | 84665 |
LAMA4 | laminin subunit alpha 4 | 3910 |
PRDM16 | PR/SET domain 16 | 63976 |
ANKRD1 | ankyrin repeat domain 1 | 27063 |