KYNU, kynureninase, 8942

N. diseases: 88; N. variants: 8
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: rs606231307
rs606231307 		2 142960633 missense variant A/G snv 1.6E-05
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2007 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 1.000 1 2017 2017
dbSNP: rs3768844
rs3768844 		2 143039125 intron variant A/G snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3816193
rs3816193 		2 143042338 3 prime UTR variant G/A snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017