rs72474224, GJB2

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nodular Sclerosis Classical Hodgkin Lymphoma
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
0.010 GeneticVariation BEFREE 47 variants, except for one notorious high-frequency GJB2 mutation (c.109G > A; p.Val37Ile), were confirmed to be benign/likely benign by the NSHL-optimized ACMG guidelines. 30872718 2019
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192 2016
Deafness, Sudden
CUI: C1148477
Disease: Deafness, Sudden
0.010 GeneticVariation BEFREE Our results suggest that the homozygous GJB2 c.109G>A mutation may be a cause of sudden deafness involving both ears. 26119842 2016
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192 2016
Psoriasis vulgaris
CUI: C0263361
Disease: Psoriasis vulgaris
0.010 GeneticVariation BEFREE A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population. 26104599 2015
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.010 GeneticVariation BEFREE To investigate the correlation between rs72474224 (c.324C>T) and subphenotypes of psoriasis, genotype data for rs72474224 (c.324C>T, p.Val37Ile) was analyzed in 9946 cases and 9906 controls. 26104599 2015
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance. 31160754 2019
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound and significantly better hearing thresholds at 250 Hz and 2k Hz than in the non-p.V37I and non-235delC nonsyndromic hearing loss and deafness 1(DFNB1) subjects. 26061264 2015
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.050 GeneticVariation BEFREE Homozygosity for the V37I GJB2 mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment. 23873582 2013
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.050 GeneticVariation BEFREE We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene. 16952406 2006
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.050 GeneticVariation BEFREE Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background. 16840571 2006
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.050 GeneticVariation BEFREE This study examines the pathogenicity of V37I by comparing the frequency of this allele in 40 patients with SNHL of Chinese and Caucasian descent with the frequency of the allele in 100 anonymized, ethnically matched controls. 17036313 2006
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.050 GeneticVariation BEFREE Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. 12121355 2002
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
0.700 GeneticVariation CLINVAR
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
0.700 GeneticVariation CLINVAR
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.700 GeneticVariation CLINVAR
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
0.700 GeneticVariation CLINVAR
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
0.700 GeneticVariation CLINVAR
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation CLINVAR
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
0.700 CausalMutation CLINVAR
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.700 GeneticVariation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.800 GeneticVariation BEFREE We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12. 27308839 2017
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.800 CausalMutation CLINVAR Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2. 27623246 2016
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.800 GeneticVariation BEFREE Among the hearing impaired subjects with homozygous p.V37I, the onset of HI was congenital in 65% (11/17) and delayed in 35% (6/17). 24654934 2015