DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
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 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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.120 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation disease CLINVAR
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR
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: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker disease CLINGEN Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 9360932 1997