CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; 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: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 1.000 2 2016 2017
dbSNP: rs878853160
rs878853160 		0.882 0.120 7 40046007 missense variant A/G snv
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 1.000 2 2016 2017
dbSNP: rs1057519632
rs1057519632 		1.000 7 39999467 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160 		0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160 		0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160 		0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2009 2018
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1853241
Disease: Flat face
Flat face 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1836038
Disease: Poor head control
Poor head control 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853 		0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0578531
Disease: Skin dimple
Skin dimple 		0.700 1.000 1 2017 2017