Source: INFERRED

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: 284439
Gene Symbol: SLC25A42
SLC25A42
solute carrier family 25 member 42 0.760 0.269 0.49
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1
solute carrier family 45 member 1 0.674 0.269 2.5E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 85021
Gene Symbol: REPS1
REPS1
RALBP1 associated Eps domain containing 1 0.769 0.269 0.99
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
G protein subunit beta 5 0.736 0.308 6.4E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1
adaptor related protein complex 1 subunit sigma 1 0.743 0.308 1.0E-01
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B
trafficking protein particle complex 6B 0.751 0.308 1.5E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3
solute carrier family 34 member 3 0.695 0.308 5.9E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3
solute carrier family 35 member A3 0.716 0.308 2.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 343450
Gene Symbol: KCNT2
KCNT2
potassium sodium-activated channel subfamily T member 2 0.711 0.308 4.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 50640
Gene Symbol: PNPLA8
PNPLA8
patatin like phospholipase domain containing 8 0.792 0.308 1.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
TBC1 domain family member 23 0.729 0.308 1.8E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
chromosome 12 open reading frame 4 0.691 0.308 1.1E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 58538
Gene Symbol: MPP4
MPP4
membrane palmitoylated protein 4 0.792 0.308 3.4E-18
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 64849
Gene Symbol: SLC13A3
SLC13A3
solute carrier family 13 member 3 0.821 0.308 9.5E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 7201
Gene Symbol: TRHR
TRHR
thyrotropin releasing hormone receptor 0.695 0.308 0.27
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0