PCNA, proliferating cell nuclear antigen, 5111

N. diseases: 581; 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: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 13 0.300 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0 1
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C4014676
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 		disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2014 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.300 None 1.000 1 2006 2006
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.300 None 1.000 1 2011 2011
CUI: C0022116
Disease: Ischemia
Ischemia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.300 None 1.000 1 2009 2009
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.300 None 1.000 1 2011 2011
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.300 None 1.000 1 2011 2011
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 39 0.300 None 1.000 1 2011 2011
CUI: C0750979
Disease: Primary malignant neoplasm of brain
Primary malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 2011 2011
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2006 2006