TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.060 None 1.000 6 1997 2014
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 44 2 0.150 None 1.000 5 2010 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.050 None 1.000 5 2006 2019
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.050 None 1.000 5 1999 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.050 None 1.000 5 2001 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.050 None 1.000 5 1998 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 0.600 5 2005 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.050 None 1.000 5 2016 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.330 None 1.000 4 1998 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.330 None 1.000 4 2001 2014
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.230 None 1.000 4 2012 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.140 None 1.000 4 1994 2017
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.140 None 1.000 4 2002 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.040 None 1.000 4 2009 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 0.500 4 2005 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.040 None 1.000 4 1999 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.040 None 1.000 4 2005 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.040 None 1.000 4 2008 2019
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.040 None 1.000 4 2009 2018
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.040 None 1.000 4 2008 2016
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.040 None 1.000 4 2002 2018
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 20 2 0.400 None 1.000 3 1 2008 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 2011 2017
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 0.130 None 1.000 3 2006 2014
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 39 4 0.130 None 1.000 3 2004 2015