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: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		TSPEAR antisense RNA 1 0.821 0.269
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype 0.100 None 0 1
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype 0.100 None 0 2