KCNMA1-AS1, KCNMA1 antisense RNA 1, 101929328

N. diseases: 40; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.100 CausalMutation disease CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
0.100 CausalMutation phenotype CLINVAR
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.100 CausalMutation disease CLINVAR
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 CausalMutation disease CLINVAR
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.100 GeneticVariation disease CLINVAR
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.100 CausalMutation phenotype CLINVAR
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 CausalMutation phenotype CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.100 CausalMutation phenotype CLINVAR
CUI: C0234860
Disease: Weak cry
Weak cry
0.100 CausalMutation phenotype CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
0.100 CausalMutation disease CLINVAR
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
0.100 CausalMutation disease CLINVAR
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 CausalMutation disease CLINVAR
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding)
0.100 CausalMutation phenotype CLINVAR
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 CausalMutation disease CLINVAR
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained
0.100 CausalMutation phenotype CLINVAR
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
0.100 CausalMutation disease CLINVAR
Delayed speech and language development
0.100 GeneticVariation phenotype CLINVAR
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack
0.100 CausalMutation phenotype CLINVAR
Recurrent upper respiratory tract infection
0.100 CausalMutation disease CLINVAR
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.100 CausalMutation disease CLINVAR
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
0.100 CausalMutation phenotype CLINVAR
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
0.100 GeneticVariation phenotype CLINVAR
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation phenotype CLINVAR
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe
0.100 CausalMutation phenotype CLINVAR