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: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 0 2
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 0 1
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2 		solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype 0.100 None 0 1