Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 CausalMutation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation CLINVAR

Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 GeneticVariation CLINVAR

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 GeneticVariation CLINVAR

Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 CausalMutation CLINVAR The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 25182139

2015
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 CausalMutation CLINVAR

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.160 GeneticVariation CLINVAR

Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 CausalMutation CLINVAR

Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.140 GeneticVariation CLINVAR

Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 CausalMutation CLINVAR

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation CLINVAR

Entrez Id: 161497
Gene Symbol: STRC
STRC
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 CausalMutation CLINVAR

Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 CausalMutation CLINVAR

Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 GeneticVariation CLINVAR

Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.120 CausalMutation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 4009
Gene Symbol: LMX1A
LMX1A
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 CausalMutation CLINVAR

Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 CausalMutation CLINVAR A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. 27329761

2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 CausalMutation CLINVAR

Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 GeneticVariation CLINVAR