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: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 2
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9969
Gene Symbol: MED13
MED13
mediator complex subunit 13 0.711 0.538 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.110 None 1.000 1 1 2016 2016
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
glutamate ionotropic receptor AMPA type subunit 3 0.566 0.692 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
cytoplasmic FMR1 interacting protein 2 0.633 0.731 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 2
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 1.000 1 1 2017 2017