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: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 27245
Gene Symbol: AHDC1
AHDC1 		AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 3
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
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
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1 		aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
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: 210
Gene Symbol: ALAD
ALAD 		aminolevulinate dehydratase 0.556 0.615 5.6E-05
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: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 7 1 1992 2017
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 8 1 1980 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 275
Gene Symbol: AMT
AMT 		aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 288
Gene Symbol: ANK3
ANK3 		ankyrin 3 0.578 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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