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: 55746
Gene Symbol: NUP133
NUP133 		nucleoporin 133 0.678 0.577 9.3E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 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: 55863
Gene Symbol: TMEM126B
TMEM126B 		transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		prosaposin 0.532 0.846 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5649
Gene Symbol: RELN
RELN 		reelin 0.515 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5625
Gene Symbol: PRODH
PRODH 		proline dehydrogenase 1 0.612 0.692 5.4E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
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: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
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: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6492
Gene Symbol: SIM1
SIM1 		SIM bHLH transcription factor 1 0.626 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		ataxin 1 0.534 0.769 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0