ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
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: rs1555742087
rs1555742087 		1.000 18 33738757 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2011 2017
dbSNP: rs1555742087
rs1555742087 		1.000 18 33738757 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555742500
rs1555742500 		0.925 18 33739379 frameshift variant GACA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555742500
rs1555742500 		0.925 18 33739379 frameshift variant GACA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2011 2017
dbSNP: rs1555743005
rs1555743005 		1.000 18 33740445 splice donor variant T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555743005
rs1555743005 		1.000 18 33740445 splice donor variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2011 2017
dbSNP: rs10164193
rs10164193 		18 33581462 intron variant T/G snv 0.13
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs11081818
rs11081818 		18 33671124 intron variant G/A snv 0.42
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 1.000 1 2016 2016