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: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14 		FKBP prolyl isomerase 14 0.650 0.654 1.5E-06
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA 		protein kinase cAMP-activated catalytic subunit alpha 0.606 0.692 0.97
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		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: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD 		protein kinase C delta 0.480 0.846 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA 		retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 64805
Gene Symbol: P2RY12
P2RY12 		purinergic receptor P2Y12 0.533 0.731 1.7E-03
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 64859
Gene Symbol: NABP1
NABP1 		nucleic acid binding protein 1 0.711 0.423 3.3E-05
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 6774
Gene Symbol: STAT3
STAT3 		signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B 		signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 6915
Gene Symbol: TBXA2R
TBXA2R 		thromboxane A2 receptor 0.597 0.654 1.3E-04
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		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: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2 		tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 4869
Gene Symbol: NPM1
NPM1 		nucleophosmin 1 0.464 0.846 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 4926
Gene Symbol: NUMA1
NUMA1 		nuclear mitotic apparatus protein 1 0.644 0.577 1.00
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 50940
Gene Symbol: PDE11A
PDE11A 		phosphodiesterase 11A 0.612 0.654 8.7E-37
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 51206
Gene Symbol: GP6
GP6 		glycoprotein VI platelet 0.597 0.615 1.6E-11
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5328
Gene Symbol: PLAU
PLAU 		plasminogen activator, urokinase 0.425 0.923 2.3E-06
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 5345
Gene Symbol: SERPINF2
SERPINF2 		serpin family F member 2 0.575 0.808 1.4E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0