ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
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: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2019 2019
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2011 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.300 strong 1.000 1 2016 2016
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.010 None 1.000 1 1 2014 2014
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2013 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 2015 2015
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.140 None 1.000 4 1 2012 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 1.000 1 1 2018 2018
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 1.000 1 1 2018 2018
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.100 None 0 1
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.100 None 1.000 1 1 2018 2018
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2019 2019
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.400 strong 1.000 1 2014 2014
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 1.000 1 1 2018 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C2675205
Disease: Distal muscle atrophy due to neurologic disease
Distal muscle atrophy due to neurologic disease 		phenotype Finding 1 0.300 strong 1.000 1 2014 2014
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.400 strong 1.000 2 1 2014 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2013 2013
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 1.000 1 1 2018 2018
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019