PRDM12, PR/SET domain 12, 59335

N. diseases: 13; 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: C4225308
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII 		disease Disease or Syndrome 1 5 0.700 None 1.000 4 5 2015 2017
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.310 None 1.000 2 2015 2016
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Finding 14 3 0.300 strong 1.000 1 2015 2015
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.300 moderate 0
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		phenotype Finding 11 0.300 moderate 0
CUI: C0349702
Disease: Corneal Scar
Corneal Scar 		phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.040 None 1.000 4 2015 2019
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.030 None 1.000 3 2015 2019
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.020 None 1.000 2 2015 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2003 2003