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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 653361
Gene Symbol: NCF1
NCF1
neutrophil cytosolic factor 1 0.521 0.808 2.8E-05
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6578
Gene Symbol: SLCO2A1
SLCO2A1
solute carrier organic anion transporter family member 2A1 0.578 0.654 2.3E-13
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6005
Gene Symbol: RHAG
RHAG
Rh associated glycoprotein 0.716 0.346 1.0E-02
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 604
Gene Symbol: BCL6
BCL6
BCL6 transcription repressor 0.444 0.808 0.96
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 60468
Gene Symbol: BACH2
BACH2
BTB domain and CNC homolog 2 0.539 0.731 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
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: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2
butyrophilin like 2 0.546 0.808 8.6E-11
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
phosphorylase kinase regulatory subunit alpha 2 0.678 0.462 0.38
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
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: 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: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0