DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574 2016
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. 24781755 2015
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Sequence analysis and expression in Escherichia coli of the hyaluronidase gene of Streptococcus pyogenes bacteriophage H4489A. 2643574 1989
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 		0.700 GeneticVariation disease CLINVAR