Source: CLINVAR

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: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		disease 0.700 None 1.000 0 6 1998 2018
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.200 None 1.000 0 1 1999 2018
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 1 2008 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 1
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype 0.100 None 0 1
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		disease 0.100 None 0 1
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease 0.100 None 0 1
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1