Source: HPO

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: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		phenotype 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		phenotype 0.100 None 0 0