PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
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: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 1.000 1 1 2019 2019
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 1.000 1 1 2019 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.110 None 1.000 1 1 2019 2019
CUI: C4538630
Disease: MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS 		disease Disease or Syndrome 1 4 0.600 None 1.000 3 4 2008 2017