Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 GeneticVariation disease UNIPROT Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 21660509 2011
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 GeneticVariation disease UNIPROT Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 21326233 2011
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 Biomarker disease GENOMICS_ENGLAND New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. 9286457 1997
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 CausalMutation disease CLINVAR
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 Biomarker disease CTD_human
CUI: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15 		0.700 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype GENOMICS_ENGLAND New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. 9286457 1997
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 CausalMutation phenotype CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 GeneticVariation disease BEFREE Mutations in GIPC3 have been shown to underlie the nonsyndromic hearing impairment linked to these loci. 25296581 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 GeneticVariation disease BEFREE Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. 23510777 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 GeneticVariation disease BEFREE Germ-line mutations of the GIPC3 or MYO6 gene cause nonsyndromic hearing loss. 23743496 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 GeneticVariation disease BEFREE Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 21660509 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 Biomarker disease CLINGEN Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 21326233 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 Biomarker disease CLINGEN Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. 21660509 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.350 GeneticVariation disease BEFREE The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 17690910 2007
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation disease BEFREE A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing. 29605370 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation disease BEFREE A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family. 25296581 2014
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation disease BEFREE Biallelic GIPC3 mutations have recently been reported to cause autosomal recessive nonsyndromic sensorineural hearing loss. 22363784 2012
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation disease BEFREE Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. 21326233 2011
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation disease CLINVAR
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.010 GeneticVariation disease BEFREE In the proband, the targeted NGS panel revealed five suspected variants in four genes (OTOF, EYA4, PCDH15, and GIPC3), of which two mutations-c.5098G > C (p.Glu1700Gln) and c.1702C > T (p.Arg568Trp)-in the OTOF gene were found to be correlated with ANSD. 30368385 2018
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population. 23510777 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population. 23510777 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype BEFREE Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans. 21326233 2011