Source: MGD

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.220 None 1.000 12 0 1971 2017
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 12 0 1978 2008
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 9 0 1981 2020
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1 		adaptor related protein complex 3 subunit delta 1 0.678 0.385 0.99
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 4 0 1975 2016
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A 		RAB27A, member RAS oncogene family 0.585 0.692 3.0E-07
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 4 0 1997 2001
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1 		dystrobrevin binding protein 1 0.588 0.615 6.8E-06
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 2 0 1991 2017
Entrez Id: 5874
Gene Symbol: RAB27B
RAB27B 		RAB27B, member RAS oncogene family 0.608 0.692 3.9E-02
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 1 0 1997 2007
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 0.743 0.385 1.4E-04
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 8 0 1978 2002
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5 		biogenesis of lysosomal organelles complex 1 subunit 5 0.890 0.231 2.9E-09
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 5 0 1969 2004
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 5 0 1984 2009
Entrez Id: 84343
Gene Symbol: HPS3
HPS3 		HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 0.769 0.308 2.9E-21
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 3 0 1988 2002
Entrez Id: 11234
Gene Symbol: HPS5
HPS5 		HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 0.674 0.423 1.9E-13
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 3 0 1980 1990
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7 		dedicator of cytokinesis 7 0.682 0.423 6.4E-06
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 2 0 1998 1998
Entrez Id: 23657
Gene Symbol: SLC7A11
SLC7A11 		solute carrier family 7 member 11 0.603 0.692 5.7E-05
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.200 None 1.000 1 0 1996 1996