Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 107
Gene Symbol: ADCY1
ADCY1
adenylate cyclase 1 0.659 0.462 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1.000 1 0 2014 2014
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
chloride intracellular channel 5 0.792 0.308 1.6E-06
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 1.000 3 0 2006 2015
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
Dmx like 2 0.695 0.538 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 1.000 2 0 2012 2017
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
epidermal growth factor receptor pathway substrate 8 0.608 0.615 0.97
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 1.000 6 0 2011 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.400 definitive 1.000 8 0 1997 2019
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
PDZ domain containing 7 0.659 0.385 7.6E-10
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.310 definitive 1.000 10 0 2009 2018
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 definitive 1.000 8 0 2003 2015
Entrez Id: 124842
Gene Symbol: TMEM132E
TMEM132E
transmembrane protein 132E 0.805 0.231 4.5E-05
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
TRIO and F-actin binding protein 0.743 0.269 2.0E-28
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 definitive 1.000 8 0 2006 2016
Entrez Id: 23558
Gene Symbol: WBP2
WBP2
WW domain binding protein 2 0.722 0.269 0.35
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1.000 1 0 2016 2016