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: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C4310677
Disease: HAREL-YOON SYNDROME
HAREL-YOON SYNDROME 		disease 0.700 None 1.000 0 3 2015 2018
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.400 strong 1.000 1 1 2016 2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 1 1 2016 2017
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 1.000 1 1 2016 2016