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: 9723
Gene Symbol: SEMA3E
SEMA3E 		semaphorin 3E 0.515 0.769 8.7E-09
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		BUB1 mitotic checkpoint serine/threonine kinase 0.528 0.731 4.9E-09
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 6916
Gene Symbol: TBXAS1
TBXAS1 		thromboxane A synthase 1 0.619 0.615 1.4E-20
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		nucleoporin 107 0.595 0.500 2.6E-09
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		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: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133 		nucleoporin 133 0.678 0.577 9.3E-05
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 7167
Gene Symbol: TPI1
TPI1 		triosephosphate isomerase 1 0.517 0.846 3.0E-02
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		centrosomal protein 57 0.615 0.615 7.3E-02
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 9319
Gene Symbol: TRIP13
TRIP13 		thyroid hormone receptor interactor 13 0.559 0.654 1.00
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 91949
Gene Symbol: COG7
COG7 		component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		WD repeat domain 73 0.610 0.500 2.8E-09
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 84667
Gene Symbol: HES7
HES7 		hes family bHLH transcription factor 7 0.647 0.538 0.83
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 8270
Gene Symbol: LAGE3
LAGE3 		L antigen family member 3 0.670 0.462 0.13
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		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: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP 		O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D 		phosphodiesterase 4D 0.519 0.846 1.00
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1 		ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 145873
Gene Symbol: MESP2
MESP2 		mesoderm posterior bHLH transcription factor 2 0.653 0.462 3.1E-06
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0