NUP214, nucleoporin 214, 8021

N. diseases: 62; N. variants: 16
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: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 0
dbSNP: rs1135402758
rs1135402758 		1.000 9 131199023 intron variant T/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs143595616
rs143595616 		9 131127590 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.700 0
dbSNP: rs143595616
rs143595616 		9 131127590 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C1850719
Disease: Recurrent encephalopathy
Recurrent encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs777822003
rs777822003 		1.000 0.080 9 131197627 missense variant C/G;T snv 2.0E-05; 6.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1169067903
rs1169067903 		0.925 0.040 9 131197276 missense variant G/A snv
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1169067903
rs1169067903 		0.925 0.040 9 131197276 missense variant G/A snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1311502646
rs1311502646 		1.000 0.120 9 131178386 missense variant C/T snv 4.0E-06
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1336795098
rs1336795098 		9 131127544 synonymous variant A/G snv 7.0E-06
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs1425743194
rs1425743194 		1.000 0.120 9 131144316 missense variant C/T snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1427146168
rs1427146168 		1.000 0.200 9 131140671 stop gained C/T snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs1427146168
rs1427146168 		1.000 0.200 9 131140671 stop gained C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1486033702
rs1486033702 		9 131197966 missense variant G/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1489050037
rs1489050037 		1.000 0.080 9 131127687 missense variant A/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018