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: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA 		retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6049
Gene Symbol: RNF6
RNF6 		ring finger protein 6 0.656 0.615 1.4E-02
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		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: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		ribosomal protein S14 0.631 0.500 0.90
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6455
Gene Symbol: SH3GL1
SH3GL1 		SH3 domain containing GRB2 like 1, endophilin A2 0.686 0.346 1.2E-02
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		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: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6756
Gene Symbol: SSX1
SSX1 		SSX family member 1 0.674 0.308 3.7E-45
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6757
Gene Symbol: SSX2
SSX2 		SSX family member 2 0.581 0.615
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5081
Gene Symbol: PAX7
PAX7 		paired box 7 0.597 0.538 0.14
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1 		activating signal cointegrator 1 complex subunit 1 0.495 0.846 2.6E-14
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		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: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0