Source: CLINVAR

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: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 1.000 7 1 2006 2009
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		cathepsin A 0.619 0.731 5.9E-09
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 1.000 3 2 1996 2014
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3 		exostosin like glycosyltransferase 3 0.599 0.731 2.5E-05
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 374393
Gene Symbol: FAM111B
FAM111B 		family with sequence similarity 111 member B 0.691 0.423 9.9E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 1