LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
Disease: Pituitary Hormone Deficiency, Combined, 3 ×
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: rs104894117
rs104894117 		1.000 0.200 9 136199800 missense variant T/C snv
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2000 2017
dbSNP: rs137854503
rs137854503 		1.000 0.200 9 136198798 missense variant G/A snv
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2000 2017
dbSNP: rs587776711
rs587776711 		1.000 0.200 9 136199658 splice donor variant GTCGTCCCCTCGGCTGACCTCGC/- delins
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs137854504
rs137854504 		1.000 0.200 9 136199844 frameshift variant GC/AGGA delins
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137854505
rs137854505 		1.000 0.200 9 136198755 stop gained C/T snv
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137854506
rs137854506 		1.000 0.200 9 136200700 stop gained T/A snv
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587776712
rs587776712 		1.000 0.200 9 136200737 frameshift variant A/- del
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0