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: C1866029
Disease: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.620 None 1.000 3 1 2010 2017
CUI: C4747989
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 		disease Disease or Syndrome 1 3 0.400 strong 1.000 1 3 2018 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease Eye Diseases Disease or Syndrome 94 74 0.310 None 1.000 2 2017 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.110 None 1.000 1 1 2016 2016
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: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1839167
Disease: Intermittent thrombocytopenia
Intermittent thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Finding 4 1 0.100 None 0 1
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: C1820737
Disease: Temperature instability
Temperature instability 		phenotype Finding 12 8 0.100 None 0 1
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		phenotype Finding 9 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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0 1
CUI: C1858977
Disease: Increased IgG level
Increased IgG level 		phenotype Finding 1 1 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: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C4072914
Disease: Increased proportion of memory B cells
Increased proportion of memory B cells 		phenotype Finding 1 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: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease Anatomical Abnormality 26 1 0.100 None 0 1