Source: CLINVAR

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: 8799
Gene Symbol: PEX11B
PEX11B
peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 2
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 414152
Gene Symbol: C10orf105
C10orf105
chromosome 10 open reading frame 105 0.861 0.231 8.4E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 3096
Gene Symbol: HIVEP1
HIVEP1
HIVEP zinc finger 1 0.711 0.500 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 2
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1
SLC26A4 antisense RNA 1 0.861 0.269
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 5
Entrez Id: 25906
Gene Symbol: ANAPC15
ANAPC15
anaphase promoting complex subunit 15 1.000 0.115 0.30
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 23552
Gene Symbol: CDK20
CDK20
cyclin dependent kinase 20 0.682 0.462 5.9E-14
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 4
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F
RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1