Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 Biomarker GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 Biomarker GENOMICS_ENGLAND A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker GENOMICS_ENGLAND Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 27707755

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker GENOMICS_ENGLAND A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574

2016