Source: ALL

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 20 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 8 1 2005 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 2 1 2012 2012
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 1 0 2018 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 1 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 1 0 2004 2004
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 2010 2010
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
activating signal cointegrator 1 complex subunit 1 0.495 0.846 2.6E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 4047
Gene Symbol: LSS
LSS
lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1 0.861 0.231 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2
nudix hydrolase 2 0.780 0.154 5.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
paired box 7 0.597 0.538 0.14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
integrator complex subunit 1 0.666 0.500 7.1E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 strong 1.000 1 0 2019 2019
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 18 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 15 1 1998 2015
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 1 0 2007 2007
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 1 0 2005 2005
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 1 0 2006 2006
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