Source: CURATED

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 5 10 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 3 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 7 20 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
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.400 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.400 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.310 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: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic Hydrocephalus 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0270720
Disease: Hydrocephalus Ex-Vacuo
Hydrocephalus Ex-Vacuo 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		disease 0.300 None 1.000 1 0 2012 2012