KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
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: rs1555038029
rs1555038029 		0.776 0.400 11 118477973 stop gained C/A snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		Stomatognathic Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		Digestive System Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G 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 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C4280757
Disease: Fast-growing nails
Fast-growing nails 		0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C4025295
Disease: Elbow hypertrichosis
Elbow hypertrichosis 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0