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: 65992
Gene Symbol: DDRGK1
DDRGK1
DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
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: 5825
Gene Symbol: ABCD3
ABCD3
ATP binding cassette subfamily D member 3 0.751 0.423 7.8E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
RAB27A, member RAS oncogene family 0.585 0.692 3.0E-07
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
recombination activating 2 0.507 0.769 2.0E-02
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.447 0.846 0.56
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5692
Gene Symbol: PSMB4
PSMB4
proteasome 20S subunit beta 4 0.659 0.615 2.6E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5698
Gene Symbol: PSMB9
PSMB9
proteasome 20S subunit beta 9 0.514 0.808 2.7E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 57511
Gene Symbol: COG6
COG6
component of oligomeric golgi complex 6 0.644 0.577 6.4E-16
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
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: 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