USP7, ubiquitin specific peptidase 7, 7874

N. diseases: 153; 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: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs111792818
rs111792818 		16 8965384 intron variant T/A snv 0.10
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs141361914
rs141361914 		16 8941610 intron variant C/T snv 4.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1529916
rs1529916 		0.851 0.120 16 8897333 intron variant G/A snv 0.26
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1529916
rs1529916 		0.851 0.120 16 8897333 intron variant G/A snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1529916
rs1529916 		0.851 0.120 16 8897333 intron variant G/A snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1529916
rs1529916 		0.851 0.120 16 8897333 intron variant G/A snv 0.26
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs166232
rs166232 		16 8941527 intron variant T/C snv 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs183725
rs183725 		16 8954178 intron variant T/A;C;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7190551
rs7190551 		16 8938158 intron variant G/A;T snv
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016