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: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		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: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 5307
Gene Symbol: PITX1
PITX1 		paired like homeodomain 1 0.561 0.654 0.88
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		plexin D1 0.647 0.577 1.00
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0
Entrez Id: 9555
Gene Symbol: MACROH2A1
MACROH2A1 		macroH2A.1 histone 0.656 0.500 0.74
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype 0.100 None 0 0