MAPK14, mitogen-activated protein kinase 14, 1432

N. diseases: 626; N. variants: 7
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: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C0206172
Disease: Diabetic Foot
Diabetic Foot 		Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980 		0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14
CUI: C0154754
Disease: Hereditary and idiopathic neuropathy, unspecified
Hereditary and idiopathic neuropathy, unspecified 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C0206172
Disease: Diabetic Foot
Diabetic Foot 		Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505 		0.807 0.240 6 36030611 intron variant C/G;T snv
CUI: C0154754
Disease: Hereditary and idiopathic neuropathy, unspecified
Hereditary and idiopathic neuropathy, unspecified 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12199654
rs12199654 		1.000 0.080 6 36041718 intron variant A/G snv 4.2E-02
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs3804452
rs3804452 		1.000 0.040 6 36109157 3 prime UTR variant G/A snv 8.6E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs7761118
rs7761118 		1.000 0.040 6 36100526 intron variant G/A snv 0.14
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs780319980
rs780319980 		1.000 0.080 6 36102610 missense variant A/G snv 1.2E-05
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs851023
rs851023 		0.925 0.080 6 36038443 intron variant G/A snv 0.89
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs851023
rs851023 		0.925 0.080 6 36038443 intron variant G/A snv 0.89
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019