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: 55717
Gene Symbol: WDR11
WDR11 		WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		pyruvate dehyrogenase phosphatase catalytic subunit 1 0.691 0.462 0.45
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8 		DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54476
Gene Symbol: RNF216
RNF216 		ring finger protein 216 0.670 0.615 2.3E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1 		reticulophagy regulator 1 0.623 0.538 6.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54453
Gene Symbol: RIN2
RIN2 		Ras and Rab interactor 2 0.623 0.692 8.1E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE 		DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD 		interleukin 17 receptor D 0.617 0.654 1.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 5495
Gene Symbol: PPM1B
PPM1B 		protein phosphatase, Mg2+/Mn2+ dependent 1B 0.711 0.500 9.1E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP 		O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1 		solute carrier family 35 member C1 0.705 0.577 2.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0