MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
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: rs1553517984
rs1553517984 		1.000 0.160 2 148463901 frameshift variant A/- del
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553518511
rs1553518511 		1.000 0.160 2 148468966 frameshift variant -/C delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553518752
rs1553518752 		1.000 0.160 2 148470263 frameshift variant C/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553519853
rs1553519853 		1.000 0.160 2 148483222 frameshift variant C/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559094754
rs1559094754 		1.000 0.160 2 148483177 frameshift variant ATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT/- del
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559099927
rs1559099927 		1.000 0.160 2 148490566 stop gained C/A snv
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122412
rs398122412 		1.000 0.160 2 148462617 frameshift variant T/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs794727928
rs794727928 		1.000 0.160 2 148463859 frameshift variant AAAAGCAT/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796052719
rs796052719 		1.000 0.160 2 148468830 frameshift variant TA/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041003
rs886041003 		1.000 0.160 2 148468383 stop gained C/G snv
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1051689897
rs1051689897 		1.000 0.040 2 148489766 synonymous variant T/C snv 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016