LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
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: rs11103377
rs11103377 		9 136205289 upstream gene variant A/G snv 0.46
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2015 2015
dbSNP: rs11103379
rs11103379 		9 136205504 upstream gene variant A/C snv 0.48
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs11103379
rs11103379 		9 136205504 upstream gene variant A/C snv 0.48
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs12378344
rs12378344 		9 136202325 intron variant G/C snv 0.49
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2274115
rs2274115 		1.000 0.080 9 136202927 intron variant A/G snv 0.66 0.72
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2274116
rs2274116 		9 136202959 synonymous variant C/G;T snv 7.9E-06; 0.25
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2015 2015
dbSNP: rs2274116
rs2274116 		9 136202959 synonymous variant C/G;T snv 7.9E-06; 0.25
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
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: rs7860634
rs7860634 		9 136197833 intron variant G/A snv 0.55
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7860634
rs7860634 		9 136197833 intron variant G/A snv 0.55
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7860634
rs7860634 		9 136197833 intron variant G/A snv 0.55
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7860634
rs7860634 		9 136197833 intron variant G/A snv 0.55
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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
dbSNP: rs137904970
rs137904970 		0.925 0.120 9 136200607 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs137904970
rs137904970 		0.925 0.120 9 136200607 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs142400016
rs142400016 		1.000 0.080 9 136200631 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1441753402
rs1441753402 		1.000 0.080 9 136198942 missense variant G/A snv 4.8E-06
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs777331392
rs777331392 		1.000 0.080 9 136199032 missense variant C/A;T snv
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011