EFHC1, EF-hand domain containing 1, 114327

N. diseases: 52; N. variants: 37
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: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 1.000 disputed 0.979 47 25 1993 2019
CUI: C2750892
Disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 		phenotype Finding 1 2 0.600 moderate 1.000 3 2 2006 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.310 None 1.000 1 1 1994 1994
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.310 None 1.000 1 1 1994 1994
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 3 0.310 None 1.000 1 1995 1995
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C4553298
Disease: Impulsive Petit Mal Epilepsy
Impulsive Petit Mal Epilepsy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4551857
Disease: Juvenile Myoclonic Epilepsy of Janz
Juvenile Myoclonic Epilepsy of Janz 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 0
CUI: C4552768
Disease: Myoclonic Epilepsy, Adolescent
Myoclonic Epilepsy, Adolescent 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4553087
Disease: Myoclonic Epilepsy, Juvenile, 1
Myoclonic Epilepsy, Juvenile, 1 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.130 None 1.000 3 1 1995 2015
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.100 None 1.000 12 1993 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 11 3 1995 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2015 2015
CUI: C2697787
Disease: Interleukin 7 Measurement
Interleukin 7 Measurement 		phenotype Laboratory Procedure 3 8 0.100 None 1.000 1 1 2017 2017
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.100 None 1.000 1 1 2015 2015
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		group Cardiovascular Diseases Disease or Syndrome 319 128 0.100 None 1.000 1 2 2016 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016