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: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 Biomarker HPO

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

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

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.490 Biomarker HPO

Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.450 Biomarker HPO

Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.440 Biomarker HPO

Entrez Id: 8022
Gene Symbol: LHX3
LHX3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.420 Biomarker HPO

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker HPO

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

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

Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker HPO

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: 10265
Gene Symbol: IRX5
IRX5
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 11342
Gene Symbol: RNF13
RNF13
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker HPO

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

Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 Biomarker HPO

Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 Biomarker HPO

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