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: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		disease 0.700 strong 1.000 2 0 1989 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		disease 0.610 definitive 1.000 3 0 1997 2017
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.310 strong 1.000 1 0 2001 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		diaphanous related formin 1 0.623 0.654 0.92
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 1 0 2016 2016