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: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 6 2 2012 2017
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
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: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 11 1 2009 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 22 2 1992 2017
Entrez Id: 112
Gene Symbol: ADCY6
ADCY6
adenylate cyclase 6 0.729 0.500 5.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 10 2 2003 2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 403
Gene Symbol: ARL3
ARL3
ADP ribosylation factor like GTPase 3 0.603 0.615 1.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 8 1 1999 2017
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 1
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 6 1 1994 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 9 1 1996 2013
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 1
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 29929
Gene Symbol: ALG6
ALG6
ALG6 alpha-1,3-glucosyltransferase 0.805 0.231 3.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 197
Gene Symbol: AHSG
AHSG
alpha 2-HS glycoprotein 0.506 0.846 3.2E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0