GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
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: rs121909349
rs121909349 		0.882 0.040 20 35434297 missense variant A/C snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121909349
rs121909349 		0.882 0.040 20 35434297 missense variant A/C snv
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2011 2011
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2010 2010
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2020 2020
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs368375586
rs368375586 		1.000 0.080 20 35434459 missense variant C/A;T snv 6.1E-05
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514519
rs397514519 		0.925 0.080 20 35434220 missense variant G/A snv 4.0E-06
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315388
rs74315388 		0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs74315389
rs74315389 		0.925 0.080 20 35433944 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.020 0.500 2 2011 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.020 0.500 2 2011 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		Musculoskeletal Diseases 0.030 1.000 3 2011 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 2010 2018
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.040 1.000 4 2007 2014
dbSNP: rs143383
rs143383 		0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.100 0.880 25 2007 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 5 2010 2019
dbSNP: rs143384
rs143384 		0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.700 1.000 2 2018 2019