PHF6, PHD finger protein 6, 84295

N. diseases: 122; N. variants: 16
Disease: Borjeson-Forssman-Lehmann 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: rs104894917
rs104894917 		1.000 0.200 X 134413937 missense variant A/G snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2002 2013
dbSNP: rs104894918
rs104894918 		1.000 0.200 X 134413923 missense variant A/G snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2002 2013
dbSNP: rs104894919
rs104894919 		1.000 0.200 X 134415055 missense variant A/G snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2002 2013
dbSNP: rs587777489
rs587777489 		1.000 0.200 X 134417248 missense variant G/T snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2002 2013
dbSNP: rs132630298
rs132630298 		1.000 0.200 X 134393556 missense variant G/T snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs132630299
rs132630299 		1.000 0.200 X 134377751 missense variant G/A snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs132630301
rs132630301 		1.000 0.200 X 134377639 stop gained A/T snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs132630300
rs132630300 		1.000 0.200 X 134377619 start lost T/C snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2002 2006
dbSNP: rs1569334260
rs1569334260 		1.000 0.200 X 134377682 stop gained C/A snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1114167289
rs1114167289 		1.000 0.200 X 134393515 stop gained C/A snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs132630297
rs132630297 		0.925 0.280 X 134425256 stop gained C/A;T snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1556013203
rs1556013203 		1.000 0.200 X 134377644 frameshift variant -/GG delins
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1556018932
rs1556018932 		1.000 0.200 X 134413910 stop gained C/T snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1556019105
rs1556019105 		1.000 0.200 X 134415043 inframe deletion ACA/- delins
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs864309532
rs864309532 		0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0