HESX1, HESX homeobox 1, 8820

N. diseases: 6; N. variants: 11
Disease: Pituitary Hormone Deficiency, Combined, 1 ×
Source: CURATED ×
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: rs754137696
rs754137696 		0.925 0.160 3 57198797 missense variant A/C snv 1.9E-04 1.4E-05
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs777223697
rs777223697 		0.925 0.160 3 57198802 stop gained A/T snv 8.0E-06
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0
dbSNP: rs777833871
rs777833871 		0.925 0.160 3 57198870 frameshift variant T/- del 1.4E-05
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.700 0