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: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
0.100 CausalMutation disease CLINVAR
Abnormality of the aryepiglottic fold
0.100 CausalMutation disease CLINVAR
Abnormality of the renal collecting system
0.100 CausalMutation phenotype 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
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
0.100 GeneticVariation phenotype CLINVAR
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
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
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.100 CausalMutation disease CLINVAR
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.100 CausalMutation disease CLINVAR
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack
0.100 CausalMutation phenotype CLINVAR
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development
0.100 CausalMutation phenotype CLINVAR
Delayed speech and language development
0.100 GeneticVariation phenotype CLINVAR
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.100 CausalMutation phenotype CLINVAR
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 CausalMutation phenotype CLINVAR
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.100 CausalMutation phenotype CLINVAR
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
0.100 CausalMutation disease 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
Facial muscle weakness of muscles innervated by CN VII
0.100 CausalMutation phenotype CLINVAR
Generalized Epilepsy and Paroxysmal Dyskinesia
0.100 CausalMutation disease CLINVAR
Generalized Epilepsy and Paroxysmal Dyskinesia
0.100 GeneticVariation disease CLINVAR
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
0.100 CausalMutation phenotype CLINVAR
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.100 CausalMutation disease CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.100 CausalMutation phenotype CLINVAR
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
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