POMP, proteasome maturation protein, 51371

N. diseases: 66; 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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4021098
Disease: Abnormal natural killer cell morphology
Abnormal natural killer cell morphology 		disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 0.100 None 0 1
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease Anatomical Abnormality 26 1 0.100 None 0 1
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0 1
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2018 2018
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2013 2013
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.010 None 1.000 1 2018 2018
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.100 None 0
CUI: C1839305
Disease: Decreased proportion of CD8-positive T cells
Decreased proportion of CD8-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 5 1 0.100 None 0 1
CUI: C4072911
Disease: Decreased proportion of naive B cells
Decreased proportion of naive B cells 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2012 2012
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0 1
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 0 1
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0 1
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease Eye Diseases Disease or Syndrome 94 74 0.310 None 1.000 2 2017 2018