Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
GRISCELLI SYNDROME TYPE 1	79476 MESH:C537301 MONDO:0008962	MYO5A	Causal	12148598 9207796 22711375	CTD ClinGen ClinVar Orphanet
GRISCELLI SYNDROME TYPE 2	79477 MESH:C537302 MONDO:0011872	RAB27A	Causal	10835631 10859366 11266470 11266472 11266474 12058346 12522785 15163896 18350256 19030707 19953648 31233462	CTD ClinGen ClinVar GWAS catalog Orphanet
GRISCELLI SYNDROME TYPE 3	79478 MESH:C537303 MONDO:0012220	MLPH	Causal	11504925 12861011 12897212 18197963 21993982 22711375 26337734 26915675 32864751	CTD ClinVar Disgenet Orphanet
GRISCELLI SYNDROME TYPE 3	79478 MESH:C537303 MONDO:0012220	MYO5A	Unknown	12897212	GWAS catalog Orphanet
GRISCELLI SYNDROME, TYPE 1	214450 C1859194	MYO5A	Unknown	—	Disgenet HPO
GRISCELLI SYNDROME, TYPE 2	607624 C1868679	RAB27A	Unknown	—	Disgenet HPO
GRISCELLI SYNDROME, TYPE 3	609227 C1836573	MLPH	Unknown	—	Disgenet HPO
GRISCELLI SYNDROME, TYPE 3	609227 C1836573	MYO5A	Unknown	—	Disgenet

Griscelli syndrome