Source: HPO

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: 85015
Gene Symbol: USP45
USP45 		ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 388753
Gene Symbol: COA6
COA6 		cytochrome c oxidase assembly factor 6 0.805 0.192 5.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY 		ATCAY kinesin light chain interacting caytaxin 0.805 0.192 0.62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP 		pyridoxal phosphate binding protein 0.736 0.231 4.0E-02
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: 167691
Gene Symbol: LCA5
LCA5 		lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 112755
Gene Symbol: STX1B
STX1B 		syntaxin 1B 0.650 0.308 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 0 0 1993 2016
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		solute carrier family 34 member 3 0.695 0.308 5.9E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 163175
Gene Symbol: LGI4
LGI4 		leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 343035
Gene Symbol: RD3
RD3 		retinal degeneration 3, GUCY2D regulator 0.700 0.308 2.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		potassium inwardly rectifying channel subfamily J member 13 0.659 0.308 1.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10 		NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 112812
Gene Symbol: FDX2
FDX2 		ferredoxin 2 0.780 0.346 1.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 166785
Gene Symbol: MMAA
MMAA 		metabolism of cobalamin associated A 0.743 0.346 9.4E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		ETHE1 persulfide dioxygenase 0.686 0.346 4.6E-06
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: 4700
Gene Symbol: NDUFA6
NDUFA6 		NADH:ubiquinone oxidoreductase subunit A6 0.711 0.346 1.3E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 53
Gene Symbol: ACP2
ACP2 		acid phosphatase 2, lysosomal 0.780 0.346 6.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0