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.
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 12 0.970 definitive 0.833 12 12 2010 2019
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: 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: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.400 strong 1.000 2 1 2014 2018
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 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: 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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.400 strong 1.000 1 2014 2014
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
phenotype Finding 58 5 0.400 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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.400 strong 1.000 1 2014 2014
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: 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
Distal muscle atrophy due to neurologic disease
phenotype Finding 1 0.300 strong 1.000 1 2014 2014
Normal serum phytanic and pristanic acid
phenotype Finding 1 0.300 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: 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: 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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
disease Disease or Syndrome 2 4 0.300 strong 0
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.160 None 1.000 6 1 2012 2018
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.140 None 1.000 4 1 2012 2018
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: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 1 1 2019 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 1.000 1 1 2018 2018