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: 6905
Gene Symbol: TBCE
TBCE
tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease 0.120 None 1.000 2 0 2006 2018
Entrez Id: 9247
Gene Symbol: GCM2
GCM2
glial cells missing transcription factor 2 0.647 0.538 9.1E-04
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease 0.100 None 0 0
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
disease 0.010 None 1.000 1 1 2018 2018