PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 14 1999 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 10 2002 2019
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.020 None 1.000 2 2013 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 2010 2017
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 1990 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2005 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2019 2019
CUI: C0574143
Disease: Liver calculus
Liver calculus 		disease Disease or Syndrome 45 0.010 None 1.000 1 2018 2018
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.010 None 1.000 1 2018 2018
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		disease Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C1608389
Disease: Autoimmune myocarditis
Autoimmune myocarditis 		disease Disease or Syndrome 63 0.010 None 1.000 1 2017 2017
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		disease Neoplastic Process 190 5 0.010 None 1.000 1 2007 2007
CUI: C2827362
Disease: Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 		disease Neoplastic Process 22 0.010 None 1.000 1 2015 2015
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.010 None 1.000 1 2019 2019
CUI: C3888552
Disease: Autoimmune colitis
Autoimmune colitis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2014 2014
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		disease Disease or Syndrome 17 8 0.010 None 1.000 1 2005 2005
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2012 2012
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		phenotype Finding 35 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		phenotype Finding 4 1 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		phenotype Finding 16 1 0.100 None 0