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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 19 10 1993 2016
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
MSL complex subunit 3 0.861 0.115 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 strong 1.000 7 1 2005 2018
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 0 0 2004 2004
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 0 1 2012 2012
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 None 1.000 17 3 2004 2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 None 1.000 14 1 1998 2015
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
prolyl endopeptidase like 0.644 0.538 2.2E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 None 1.000 0 0 2006 2006
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5250
Gene Symbol: SLC25A3
SLC25A3
solute carrier family 25 member 3 0.566 0.692 7.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 46 3 1988 2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.595 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 38 4 1983 2017
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 38 3 1983 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 36 2 1989 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 34 2 1991 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 34 2 1967 2017
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 30 1 1996 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 29 2 1980 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 29 2 1986 2016
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 28 4 1988 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 28 1 1991 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 27 4 1988 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 27 3 1998 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 26 1 1995 2018