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: 6729
Gene Symbol: SRP54
SRP54
signal recognition particle 54 0.612 0.769 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
recombination activating 2 0.507 0.769 2.0E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA
retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 0 2001 2005
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 6714
Gene Symbol: SRC
SRC
SRC proto-oncogene, non-receptor tyrosine kinase 0.467 0.885 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 0 2016 2019
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0