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: 2122
Gene Symbol: MECOM
MECOM
MDS1 and EVI1 complex locus 0.513 0.731 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.300 None 1.000 1 0 2015 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 1
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C
jumonji domain containing 1C 0.517 0.769 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 286
Gene Symbol: ANK1
ANK1
ankyrin 1 0.540 0.885 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
nuclear factor kappa B subunit 1 0.396 0.923 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
nuclear factor kappa B subunit 2 0.509 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
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: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
protein tyrosine phosphatase receptor type C 0.435 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
spectrin beta, erythrocytic 0.650 0.462 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 1
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
histone cell cycle regulator 0.537 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
FAT atypical cadherin 4 0.539 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C
SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.300 None 1.000 1 0 1996 1996
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 83737
Gene Symbol: ITCH
ITCH
itchy E3 ubiquitin protein ligase 0.556 0.769 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
protein kinase C delta 0.480 0.846 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0