Source: GENOMICS_ENGLAND

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: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease 0.800 None 0.982 3 0 1985 2019
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 1.000 1 0 1985 1985
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease 0.300 None 0 0