ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
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: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		0.700 0
dbSNP: rs864309484
rs864309484 		1.000 0.080 3 123291354 missense variant A/T snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 0.875 8 2010 2018
dbSNP: rs1553732126
rs1553732126 		3 123347875 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 22 1992 2017
dbSNP: rs1553732126
rs1553732126 		3 123347875 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1992 2017
dbSNP: rs746547282
rs746547282 		3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1992 2017
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 22 1992 2017
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1992 2017
dbSNP: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 5 2010 2019
dbSNP: rs797045002
rs797045002 		1.000 0.080 3 123325321 splice donor variant C/A;T snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2012 2015
dbSNP: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 2 2012 2012
dbSNP: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 2 2012 2012
dbSNP: rs2877716
rs2877716 		3 123375604 intron variant T/C snv 0.76
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2012
dbSNP: rs796065306
rs796065306 		1.000 0.080 3 123319754 missense variant C/T snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs9883204
rs9883204 		3 123377973 intron variant T/A;C snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.800 1.000 2 2010 2013
dbSNP: rs10934646
rs10934646 		3 123365694 intron variant A/G snv 0.26
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017