PRMT7, protein arginine methyltransferase 7, 54496

N. diseases: 65; N. variants: 13
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: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.700 0
dbSNP: rs1567721991
rs1567721991 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567721991
rs1567721991 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0