Source: BEFREE

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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.790 strong 1.000 9 1 1995 2018
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.320 None 1.000 2 2 2016 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.310 None 1.000 1 0 2008 2016
Entrez Id: 1950
Gene Symbol: EGF
EGF 		epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.010 None 1.000 1 1 2019 2019
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		heat shock protein family B (small) member 3 0.448 0.769 6.1E-05
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9510
Gene Symbol: ADAMTS1
ADAMTS1 		ADAM metallopeptidase with thrombospondin type 1 motif 1 0.555 0.654 0.72
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.010 None 1.000 1 0 2009 2009