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: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.310 strong 1.000 2 2014 2018
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.400 strong 1.000 2 1 2014 2018
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.400 strong 1.000 2 1 2014 2018
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.400 strong 1.000 2 1 2014 2018
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.400 strong 1.000 1 2014 2014
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.400 strong 1.000 1 2014 2014
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2019 2019
CUI: C4551520
Disease: Intention tremor
Intention tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.100 None 1.000 1 1 2018 2018
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 29 41 0.100 None 1.000 1 2 2018 2018
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.400 strong 1.000 1 2014 2014
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: C2675206
Disease: Normal serum phytanic and pristanic acid
Normal serum phytanic and pristanic acid 		phenotype Finding 1 0.300 strong 1.000 1 2014 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 strong 1.000 1 2014 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 1.000 1 2 2012 2012
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.400 strong 1.000 1 2014 2014
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.300 strong 1.000 1 2014 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.310 strong 1.000 1 1 2014 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 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
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: 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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 1.000 1 1 2018 2018