Source: INFERRED

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: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease 1.000 strong 0.994 118 139 1988 2020
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		disease 0.900 strong 0.994 26 17 1997 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		disease 0.810 moderate 1.000 0 1 1998 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.480 None 1.000 1 1 2009 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.460 None 1.000 0 0 1999 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.400 None 1.000 0 0 2011 2011
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.150 None 1.000 0 2 1999 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease 0.120 None 1.000 1 1 2010 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group 0.110 None 1.000 1 1 2013 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.110 None 1.000 0 2 2018 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 9 7 2015 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 7 2 1997 2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 7 2 1997 2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype 0.100 None 1.000 2 2 2012 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype 0.100 None 1.000 2 2 2012 2018
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype 0.100 None 1.000 1 2 2019 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0037369
Disease: Smoking
Smoking 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.100 None 1.000 1 1 2019 2019