Hermansky-pudlak syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Hermanski-Pudlak Syndrome C0079504 AP3B1 Causal Pathogenic evidence from ClinVar 14566336 ClinVar
AP3D1 Causal Pathogenic evidence from ClinVar 26744459 ClinVar
BLOC1S3 Causal Pathogenic evidence from ClinVar - ClinVar
BLOC1S6 Causal Pathogenic evidence from ClinVar - ClinVar
DTNBP1 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
HPS1 Causal Pathogenic evidence from ClinVar 8896559, 9497254, 14510955, 16185271, 20662851, 31064749 ClinVar
HPS3 Causal Pathogenic evidence from ClinVar 11590544, 25525159 ClinVar
HPS4 Causal Pathogenic evidence from ClinVar - ClinVar
HPS5 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
HPS6 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
CP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MARK4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HERMANSKY-PUDLAK SYNDROME 2 C1842362 AP3B1 Causal Pathogenic evidence from ClinVar 10024875, 11590544, 14566336, 16551969, 26684649, 28585318 ClinVar
HERMANSKY-PUDLAK SYNDROME 10 C4310746 AP3D1 Causal Pathogenic evidence from ClinVar 26744459 ClinVar
HERMANSKY-PUDLAK SYNDROME 8 C3888026 BLOC1S3 Causal Pathogenic evidence from ClinVar 16385460, 22709368 ClinVar
MARK4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hermansky-Pudlak syndrome type 8 231537 BLOC1S3 Causal Pathogenic evidence from ClinVar - ClinVar
HERMANSKY-PUDLAK SYNDROME 9 C3280026 BLOC1S6 Causal Pathogenic evidence from ClinVar 21665000, 22461475, 26575419, 29054114 ClinVar
Hermansky-Pudlak syndrome type 9 280663 BLOC1S6 Causal Pathogenic evidence from ClinVar - ClinVar
HERMANSKY-PUDLAK SYNDROME 7 C3279756 DTNBP1 Causal Pathogenic evidence from ClinVar 12923531, 28259707 ClinVar
Hermansky-Pudlak syndrome type 7 231531 DTNBP1 Causal Pathogenic evidence from ClinVar - ClinVar
HERMANSKY-PUDLAK SYNDROME 3 C3888001 HPS3 Causal Pathogenic evidence from ClinVar 11455388, 11590544, 28284561 ClinVar
CP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HERMANSKY-PUDLAK SYNDROME 4 C3484357 HPS4 Causal Pathogenic evidence from ClinVar 11836498, 15108212, 29108692 ClinVar
HERMANSKY-PUDLAK SYNDROME 5 C3888004 HPS5 Causal Pathogenic evidence from ClinVar 12548288, 15296495, 26785811, 28296950, 28640947 ClinVar
HERMANSKY-PUDLAK SYNDROME 6 C3888007 HPS6 Causal Pathogenic evidence from ClinVar 12548288, 17041891, 19843503 ClinVar