Source: CLINVAR

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: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 4
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 3 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 0.805 0.231
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 3 1 2011 2012