Source: GENOMICS_ENGLAND

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: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		disease 0.700 strong 1.000 3 0 1989 2017
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.650 None 1.000 1 0 2012 2019
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		disease 0.600 None 1.000 5 0 1989 2015
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group 0.450 strong 1.000 1 0 2013 2019
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.410 strong 1.000 1 0 2013 2013