Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 Biomarker disease GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754 2019
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 Biomarker disease GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815 2005
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 Biomarker disease GENOMICS_ENGLAND Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471 2004
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 GeneticVariation disease UNIPROT Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. 12072059 2002
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 GeneticVariation disease BEFREE Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. 12072059 2002
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883 2000
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800 1997
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442 1997
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 CausalMutation disease CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482 1997
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 GeneticVariation disease CLINVAR
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 Biomarker disease CTD_human
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.710 Biomarker disease GENOMICS_ENGLAND