KCNMA1-AS1, KCNMA1 antisense RNA 1, 101929328

N. diseases: 40; N. variants: 5
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 4 0.100 None 0 2
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 3 0.100 None 0 1
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		phenotype Finding 4 1 0.100 None 0 1
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		phenotype Eye Diseases Finding 6 4 0.100 None 0 1
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		disease Disease or Syndrome 7 1 0.100 None 0 1
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 8 2 0.100 None 0 1
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 1
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 19 13 0.100 None 0 1
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		phenotype Finding 23 3 0.100 None 0 1
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		disease Anatomical Abnormality 23 2 0.100 None 0 1
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 25 2 0.100 None 0 1
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 17 0.100 None 0 1
CUI: C0007384
Disease: Cataplexy
Cataplexy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0234860
Disease: Weak cry
Weak cry 		phenotype Finding 42 4 0.100 None 0 1
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0 1
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 3 0.100 None 0 1
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 67 18 0.100 None 0 1
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0 1
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0 1