PLIN2, perilipin 2, 123

N. diseases: 100; N. variants: 3
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: C0346027
Disease: Eccrine epithelioma
Eccrine epithelioma 		disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 12 0.010 None < 0.001 1 1998 1998
CUI: C1879641
Disease: Primary Cutaneous Mucinous Carcinoma
Primary Cutaneous Mucinous Carcinoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C1706827
Disease: Apocrine Carcinoma
Apocrine Carcinoma 		disease Neoplastic Process 11 0.010 None 1.000 1 2014 2014
CUI: C0855173
Disease: Placental Choriocarcinoma
Placental Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 13 0.010 None 1.000 1 2006 2006
CUI: C4042906
Disease: Mammary Analogue Secretory Carcinoma
Mammary Analogue Secretory Carcinoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2013 2013
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 19 0.010 None 1.000 1 2013 2013
CUI: C0205825
Disease: Liposarcoma, Pleomorphic
Liposarcoma, Pleomorphic 		disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2019 2019
CUI: C0206684
Disease: Sebaceous Adenocarcinoma
Sebaceous Adenocarcinoma 		disease Neoplasms Neoplastic Process 41 2 0.020 None 1.000 2 2017 2018
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 8 0.010 None 1.000 1 2010 2010
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.010 None 1.000 1 2018 2018
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell 		disease Neoplasms; Immune System Diseases Neoplastic Process 47 0.010 None 1.000 1 2004 2004
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 2018 2018
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.010 None 1.000 1 2018 2018
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 82 8 0.010 None 1.000 1 2020 2020
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.060 None 1.000 6 1989 2017
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		disease Infections Disease or Syndrome 94 17 0.010 None 1.000 1 2008 2008
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin 		disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2017 2017
CUI: C1333001
Disease: Childhood Renal Cell Carcinoma
Childhood Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 107 10 0.010 None 1.000 1 2017 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2018 2018
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		disease Neoplasms Neoplastic Process 159 10 0.010 None 1.000 1 2018 2018
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.010 None 1.000 1 2016 2016
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 2014 2014
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.010 None 1.000 1 2018 2018