Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3147083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 76
DEAFNESS, AUTOSOMAL RECESSIVE 76 		0.600 Biomarker disease GENOMICS_ENGLAND A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. 28958982 2018
CUI: C3147083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 76
DEAFNESS, AUTOSOMAL RECESSIVE 76 		0.600 CausalMutation disease CLINVAR
CUI: C3147083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 76
DEAFNESS, AUTOSOMAL RECESSIVE 76 		0.600 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN The LINC complex is essential for hearing. 23348741 2013
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.010 GeneticVariation disease BEFREE We determined that progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for the protein truncating mutation SYNE4 c.228delAT. 23348741 2013