Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C4021041
Disease: Maternal fever in pregnancy
Maternal fever in pregnancy 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C3532933
Disease: Moderate expressive language delay
Moderate expressive language delay 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		phenotype 0.100 None 0 9
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 8