DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Disease: Woodhouse Sakati syndrome ×
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: rs780493577
rs780493577 		1.000 0.320 2 171473864 splice acceptor variant A/C;G snv 8.0E-06; 4.0E-06
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 2 2008 2010
dbSNP: rs797045038
rs797045038 		1.000 0.320 2 171448795 frameshift variant C/- del
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 2 2008 2016
dbSNP: rs879253799
rs879253799 		0.882 0.320 2 171443559 frameshift variant A/- delins
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1314048356
rs1314048356 		1.000 0.320 2 171480198 splice region variant G/A;T snv 8.0E-06
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1559245286
rs1559245286 		1.000 0.320 2 171434627 frameshift variant C/- del
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1559264135
rs1559264135 		1.000 0.320 2 171448746 stop gained G/A snv
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1559289651
rs1559289651 		1.000 0.320 2 171473981 splice region variant T/G snv
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs760978794
rs760978794 		1.000 0.320 2 171448700 stop gained C/A;T snv 4.2E-06
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs761229686
rs761229686 		1.000 0.320 2 171468955 stop gained G/A snv 8.0E-06
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs863224865
rs863224865 		1.000 0.320 2 171443575 frameshift variant -/A delins
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs868533593
rs868533593 		1.000 0.320 2 171434662 stop gained C/A;T snv
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0