Source: ALL

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: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Ski2 like RNA helicase 0.615 0.654 1.3E-22
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A
VPS33A core subunit of CORVET and HOPS complexes 0.695 0.538 0.18
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
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: 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: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 1
Entrez Id: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
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: 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: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
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: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 1
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
ATPase phospholipid transporting 8B1 0.610 0.500 2.8E-10
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
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