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: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
Congenital muscular dystrophy (disorder)
disease 0.500 strong 1.000 0 0 1996 2020
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
integrin subunit alpha 7 0.588 0.654 4.3E-17
Congenital muscular dystrophy (disorder)
disease 0.400 limited 1.000 1 0 1998 1998
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.498 0.808 0.98
Congenital muscular dystrophy (disorder)
disease 0.400 strong 1.000 1 0 2001 2018
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
Congenital muscular dystrophy (disorder)
disease 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
Congenital muscular dystrophy (disorder)
disease 0.410 strong 1.000 1 0 2013 2013
Entrez Id: 84197
Gene Symbol: POMK
POMK
protein O-mannose kinase 0.590 0.500 1.9E-08
Congenital muscular dystrophy (disorder)
disease 0.410 limited 1.000 1 0 2018 2020