PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
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: C0270970
Disease: Reducing-body myopathy
Reducing-body myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2009 2010
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.010 None 1.000 1 2016 2016
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 1997 1997
CUI: C3160886
Disease: Non ST segment elevation acute coronary syndrome
Non ST segment elevation acute coronary syndrome 		disease Disease or Syndrome 12 2 0.010 None 1.000 1 2018 2018
CUI: C0746402
Disease: manic symptom
manic symptom 		phenotype Mental or Behavioral Dysfunction 16 1 0.010 None < 0.001 1 2012 2012
CUI: C1299433
Disease: Left main coronary artery disease
Left main coronary artery disease 		disease Cardiovascular Diseases Disease or Syndrome 17 4 0.010 None 1.000 1 2019 2019
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 21 12 0.010 None 1.000 1 2004 2004
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2006 2006
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.010 None 1.000 1 2016 2016
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 36 9 0.010 None 1.000 1 2008 2008
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 38 18 0.030 None 1.000 3 1998 2018
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		disease Neoplastic Process 41 103 0.100 None 1.000 1 1 2019 2019
CUI: C0024517
Disease: Major depression, single episode
Major depression, single episode 		disease Mental Disorders Mental or Behavioral Dysfunction 42 14 0.010 None 1.000 1 2014 2014
CUI: C3896961
Disease: Adult Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 44 2 0.010 None 1.000 1 2002 2002
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 48 7 0.310 None < 0.001 1 2007 2007
CUI: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 3 0.010 None 1.000 1 2002 2002
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 57 0.010 None 1.000 1 2006 2006
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.020 None 1.000 2 1 2011 2016
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		group Cardiovascular Diseases Disease or Syndrome 79 5 0.010 None 1.000 1 2019 2019
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 82 4 0.010 None 1.000 1 2011 2011
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 83 46 0.010 None 1.000 1 2004 2004
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.010 None 1.000 1 2008 2008
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.010 None 1.000 1 1996 1996
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 124 25 0.010 None 1.000 1 2018 2018
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.010 None 1.000 1 2014 2014