Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		0.100 Biomarker disease HPO
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.100 Biomarker disease HPO
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		0.100 Biomarker disease HPO
Entrez Id: 84197
Gene Symbol: POMK
POMK 		0.100 Biomarker disease HPO
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		0.100 Biomarker disease HPO
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 Biomarker disease HPO
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		0.410 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.410 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3 		0.330 Biomarker disease GENOMICS_ENGLAND Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement. 27773428 2016