PLCG1, phospholipase C gamma 1, 5335

N. diseases: 116; N. variants: 7
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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 9 0.010 None < 0.001 1 2018 2018
CUI: C4287864
Disease: MAGT1 Deficiency
MAGT1 Deficiency 		disease Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C0406484
Disease: Sebaceous hyperplasia
Sebaceous hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0345907
Disease: Angiosarcoma of liver
Angiosarcoma of liver 		disease Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2015 2015
CUI: C0376407
Disease: Granulomatous Slack Skin
Granulomatous Slack Skin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2015 2015
CUI: C0162823
Disease: Dermatitis, Irritant
Dermatitis, Irritant 		disease Skin and Connective Tissue Diseases Disease or Syndrome 29 0.010 None 1.000 1 2019 2019
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.010 None 1.000 1 2015 2015
CUI: C0862196
Disease: Mycosis fungoides/Sezary syndrome NOS
Mycosis fungoides/Sezary syndrome NOS 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 0.010 None 1.000 1 2015 2015
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2019 2019
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 10 0.010 None 1.000 1 2003 2003
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.010 None 1.000 1 2006 2006
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 61 1 0.010 None 1.000 1 2003 2003
CUI: C0021122
Disease: Disruptive, Impulse Control, and Conduct Disorders
Disruptive, Impulse Control, and Conduct Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 67 9 0.010 None 1.000 1 2019 2019
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2014 2014
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2014 2014
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.020 None 1.000 2 1992 1993
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 109 8 0.020 None 1.000 2 2016 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		disease Neoplastic Process 153 11 0.010 None 1.000 1 2019 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		disease Neoplasms Neoplastic Process 162 7 0.550 None 1.000 5 2014 2017
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.010 None 1.000 1 1 2015 2015
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2009 2009