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: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 2
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		H3.3 histone A 0.559 0.692 0.12
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 2