Source: ORPHANET

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: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.700 None 1.000 1 0 2001 2017
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.610 strong 1.000 1 0 2008 2011
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.530 None 1.000 2 0 2007 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.530 None 1.000 2 0 2004 2017
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.520 None 1.000 1 0 2003 2011
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.510 None 1.000 2 0 2003 2009
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.510 None 1.000 1 0 2013 2018
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.500 None 1.000 1 0 2013 2013