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: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 16 13 1986 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 21 11 1984 2017
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: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 18 9 2004 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 5 9 2000 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 16 8 1989 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 22 7 1989 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 8 7 1968 2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 22 6 1991 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 23 5 2007 2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 17 5 2004 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 12 5 1973 2013
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
tubulin alpha 1a 0.597 0.769 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 11 5 2007 2016
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 7 5 2007 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: 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: 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: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 18 4 1998 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 17 4 1991 2018
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 13 4 1999 2017
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 12 4 1998 2015
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 10 4 2009 2016
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 7 4 1999 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 7 4 2004 2015
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 3 4 2002 2017