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: 64093
Gene Symbol: SMOC1
SMOC1 		SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype 0.100 None 0 2