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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 1
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 1
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 2