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: 113189
Gene Symbol: CHST14
CHST14
carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 64805
Gene Symbol: P2RY12
P2RY12
purinergic receptor P2Y12 0.533 0.731 1.7E-03
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA
retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
perforin 1 0.540 0.692 5.5E-06
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 6915
Gene Symbol: TBXA2R
TBXA2R
thromboxane A2 receptor 0.597 0.654 1.3E-04
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B
growth factor independent 1B transcriptional repressor 0.623 0.500 5.2E-04
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 81608
Gene Symbol: FIP1L1
FIP1L1
factor interacting with PAPOLA and CPSF1 0.575 0.577 0.79
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 811
Gene Symbol: CALR
CALR
calreticulin 0.413 0.923 0.89
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
TBL1X receptor 1 0.534 0.808 1.00
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16
zinc finger and BTB domain containing 16 0.545 0.808 1.00
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
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: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 5371
Gene Symbol: PML
PML
promyelocytic leukemia 0.477 0.846 0.21
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0
Entrez Id: 2677
Gene Symbol: GGCX
GGCX
gamma-glutamyl carboxylase 0.678 0.538 2.0E-14
CUI: C0013491
Disease: Ecchymosis
Ecchymosis
phenotype 0.100 None 0 0