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: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 2
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.568 0.692 1.00
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1