Perrault syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Perrault syndrome 2855 CLPP Causal Pathogenic evidence from ClinVar - ClinVar
ERAL1 Causal Pathogenic evidence from ClinVar - ClinVar
HARS2 Causal Pathogenic evidence from ClinVar - ClinVar
HSD17B4 Causal Pathogenic evidence from ClinVar - ClinVar
LARS2 Causal Pathogenic evidence from ClinVar - ClinVar
TWNK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PERRAULT SYNDROME 3 C3808414 CLPP Causal Pathogenic evidence from ClinVar 8543061, 23541340, 23851121, 25956234, 26970254, 27087618, 27650058, 27899912, 28604674 ClinVar
PERRAULT SYNDROME 6 C4479656 ERAL1 Causal Pathogenic evidence from ClinVar 28449065 ClinVar
PERRAULT SYNDROME 2 C3554105 HARS2 Causal Pathogenic evidence from ClinVar 21464306, 27650058, 28263850, 31449985 ClinVar
PERRAULT SYNDROME 1 C4551721 HSD17B4 Causal Pathogenic evidence from ClinVar 9482850, 9915948, 10400999, 10748062, 16385454, 20673864, 22864515, 23181892, 25882080, 25967389, 26970254, 27290639 ClinVar
PERRAULT SYNDROME 4 C3809105 LARS2 Causal Pathogenic evidence from ClinVar 9408748, 23541342, 26657938, 27604308 ClinVar
PERRAULT SYNDROME 5 C4015307 TWNK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19513767, 25355836 -