OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Panhypopituitarism ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199761861
rs199761861 		0.925 0.080 14 56802204 missense variant G/C;T snv 2.1E-04; 1.6E-05
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012