Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.500 Biomarker phenotype CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0011053
Disease: Deafness
Deafness 		0.500 Biomarker phenotype GENOMICS_ENGLAND Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		0.300 Biomarker phenotype CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		0.300 Biomarker phenotype CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		0.300 Biomarker disease CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		0.300 Biomarker phenotype CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		0.300 Biomarker disease CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 GeneticVariation disease BEFREE A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). 28930887 2017
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 Biomarker disease BEFREE To investigate the associations between gene variants in cholesterol 24S-hydroxylase (CYP46A1), LIM homeobox transcription factor 1-beta (LMX1B), plexin domain containing 2 (PLXDC2), toll-like receptor 4 (TLR4), transmembrane and tetratricopeptide repeat containing 2 (TMTC2), zona pellucida glycoprotein 4 (ZP4), chromosome 2p16.3, and primary open-angle glaucoma (POAG). 22773901 2012
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation disease BEFREE Genetic analyses revealed a mutation (rs35725509) in the TMTC2 gene, which has been reported previously as a likely genetic cause of SNHL in another family of Northern European descent. 29671961 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.010 GeneticVariation disease BEFREE TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad. 29671961 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 GeneticVariation disease BEFREE A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). 28930887 2017
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		0.010 GeneticVariation disease BEFREE A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). 28930887 2017
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10(-9)). 26542096 2015
CUI: C0013595
Disease: Eczema
Eczema 		0.010 GeneticVariation disease BEFREE Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10(-9)). 26542096 2015