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: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 1 4 2017 2017
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: 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: 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: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 26 3 1995 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 25 3 1983 2017
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 23 3 2000 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 21 3 1989 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 20 3 1999 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 19 3 1963 2016
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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 18 3 1984 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 16 3 1995 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 16 3 1971 2018
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 15 3 1989 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 3 1991 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 3 2001 2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 3 1991 2014
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 12 3 1997 2017
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 11 3 2001 2015
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
neurite extension and migration factor 0.659 0.385 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 11 3 2004 2017
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 11 3 2000 2017
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 0.805 0.231
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 10 3 2009 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 10 3 2009 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 9 3 2011 2017