KLC4, kinesin light chain 4, 89953

N. diseases: 31; 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: rs61752334
rs61752334 		1.000 0.200 6 43044883 missense variant A/C snv 1.6E-04 1.1E-04
CUI: C2678312
Disease: Three M Syndrome 1
Three M Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 4 2005 2012
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1833144
Disease: Slender long bone
Slender long bone 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0024003
Disease: Lordosis
Lordosis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0426818
Disease: Thin rib
Thin rib 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767 		1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0024003
Disease: Lordosis
Lordosis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909 		0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336 		0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019