Disease Term Disease ID Gene Symbol Classification References Source
Griscelli syndrome type 3 79478 MLPH Causal Pathogenic evidence from ClinVar - ClinVar
MYO5A Causal Pathogenic evidence from ClinVar - ClinVar
GRISCELLI SYNDROME, TYPE 3 C1836573 MLPH Causal Pathogenic evidence from ClinVar 12897212 ClinVar
MYO5A Causal Pathogenic evidence from ClinVar 12148598, 12897212 ClinVar
Griscelli syndrome type 1 79476 MYO5A Causal Pathogenic evidence from ClinVar - ClinVar
GRISCELLI SYNDROME, TYPE 1 C1859194 MYO5A Causal Pathogenic evidence from ClinVar 9207796 ClinVar
Griscelli syndrome type 2 79477 RAB27A Causal Pathogenic evidence from ClinVar - ClinVar
GRISCELLI SYNDROME, TYPE 2 C1868679 RAB27A Causal Pathogenic evidence from ClinVar 10835631, 12446441, 12531900, 15163896, 15475639, 15548590, 16278825, 18397837, 19030707, 19953648, 23160464, 25071262, 25500851, 25544030, 26880764, 27016801 ClinVar