Source: HPO

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: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C3279322
Disease: Progressive flexion contractures
Progressive flexion contractures 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0152421
Disease: Macrotia
Macrotia 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1 		prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0