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: C0234860
Disease: Weak cry
Weak cry 		0.100 CausalMutation phenotype CLINVAR
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		0.100 CausalMutation disease CLINVAR
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		0.100 CausalMutation phenotype CLINVAR
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 CausalMutation disease CLINVAR
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.100 CausalMutation phenotype CLINVAR
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.100 CausalMutation disease CLINVAR
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		0.100 CausalMutation disease CLINVAR
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.100 CausalMutation phenotype CLINVAR
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 GeneticVariation disease CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 CausalMutation disease CLINVAR
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		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
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 CausalMutation disease CLINVAR
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: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 CausalMutation disease CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 CausalMutation disease CLINVAR
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.100 CausalMutation phenotype CLINVAR
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.100 CausalMutation disease CLINVAR
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		0.100 GeneticVariation disease CLINVAR
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0.100 CausalMutation phenotype CLINVAR
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 Biomarker disease BEFREE Upregulated KCNMA1-AS1 was found in EOC tissues than that of normal tissues, showing the diagnostic potential of KCNMA1-AS1 in EOC. 31210304 2019