GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13
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: rs104893891
rs104893891 		1.000 5 37815827 missense variant T/A;C snv
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.800 1.000 4 1996 2000
dbSNP: rs121918536
rs121918536 		1.000 5 37815654 missense variant G/C snv 9.9E-05 1.0E-04
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.800 1.000 4 1996 2000
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.710 1.000 1 1997 1997
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 1996 2000
dbSNP: rs777451569
rs777451569 		1.000 5 37834736 missense variant G/A snv 3.3E-05 6.3E-05
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 1996 2000
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 2 1998 2010
dbSNP: rs11747340
rs11747340 		5 37840346 intron variant G/A snv 6.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs760097344
rs760097344 		1.000 0.080 5 37815763 missense variant C/G;T snv 4.0E-06 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2002 2017
dbSNP: rs1110149
rs1110149 		5 37823951 intron variant C/G snv 0.35
CUI: C0040264
Disease: Tinnitus
Tinnitus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11111
rs11111 		0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs11111
rs11111 		0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs11111
rs11111 		0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs11111
rs11111 		0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs11111
rs11111 		0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1227230819
rs1227230819 		0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1227230819
rs1227230819 		0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2973050
rs2973050 		1.000 0.040 5 37817242 intron variant A/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs2973050
rs2973050 		1.000 0.040 5 37817242 intron variant A/G;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs3096140
rs3096140 		0.882 0.080 5 37832731 intron variant G/A snv 0.69
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs3096140
rs3096140 		0.882 0.080 5 37832731 intron variant G/A snv 0.69
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2013 2013
dbSNP: rs3096140
rs3096140 		0.882 0.080 5 37832731 intron variant G/A snv 0.69
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs3096140
rs3096140 		0.882 0.080 5 37832731 intron variant G/A snv 0.69
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2013 2013
dbSNP: rs3096140
rs3096140 		0.882 0.080 5 37832731 intron variant G/A snv 0.69
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 1997 1997