Source: CURATED

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: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.400 None 1.000 1 0 2002 2002
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.400 None 1.000 1 0 2000 2000
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2 		cholinergic receptor nicotinic beta 2 subunit 0.617 0.308 7.3E-04
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		ataxin 7 0.581 0.654 0.96
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.300 None 1.000 1 0 2014 2014