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: 3284
Gene Symbol: HSD3B2
HSD3B2 		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 3008
Gene Symbol: H1-4
H1-4 		H1.4 linker histone, cluster member 0.682 0.385 0.19
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4 		glutathione peroxidase 4 0.516 0.808 4.8E-05
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1 		caveolae associated protein 1 0.559 0.654 5.0E-03
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 2719
Gene Symbol: GPC3
GPC3 		glypican 3 0.466 0.808 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 2353
Gene Symbol: FOS
FOS 		Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0