TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
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: C1302778
Disease: Congenital lymphatic malformation
Congenital lymphatic malformation
disease Congenital Abnormality 1 0.010 None 1.000 1 2020 2020
CUI: C4525743
Disease: Rectal Neuroendocrine Tumor
Rectal Neuroendocrine Tumor
disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018
Polycystic kidneys, severe infantile with tuberous sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2004 2011
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 1996 1996
CUI: C0442880
Disease: Periungual fibroma
Periungual fibroma
disease Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis
disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 3 0.110 None 1.000 1 2001 2001
Focal Cortical Dysplasia of Taylor, Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2017 2017
Focal Cortical Dysplasia of Taylor, Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2017 2017
CUI: C0266003
Disease: Subungual fibroma
Subungual fibroma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.100 None 0
CUI: C1860710
Disease: Achromatic retinal patches
Achromatic retinal patches
phenotype Finding 3 0.100 None 0
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules
phenotype Finding 3 1 0.100 None 0
CUI: C1968959
Disease: Cortical tubers
Cortical tubers
phenotype Finding 3 4 0.100 None 0 2
CUI: C0002992
Disease: Angiomatosis
Angiomatosis
disease Cardiovascular Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2009 2009
CUI: C2931039
Disease: Pancreatic islet cell tumors
Pancreatic islet cell tumors
disease Neoplasms Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C0242426
Disease: Chylopericardium
Chylopericardium
disease Cardiovascular Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma
disease Neoplastic Process 4 0.100 None 0
CUI: C3889261
Disease: Other License Status
Other License Status
phenotype Finding 4 0.300 limited 0
CUI: C2350234
Disease: Clear-Cell Sugar Tumors
Clear-Cell Sugar Tumors
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2016 2016
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits
phenotype Finding 5 1 0.100 None 0 1
Multifocal micronodular pneumocyte hyperplasia
disease Disease or Syndrome 6 0.020 None 1.000 2 2001 2001
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 6 1 0.120 None 1.000 2 2003 2018
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS
disease Neoplasms Neoplastic Process 6 1 0.010 None 1.000 1 2002 2002
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures
disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008
CUI: C1336899
Disease: Uterine Angiosarcoma
Uterine Angiosarcoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 6 0.010 None 1.000 1 2012 2012
CUI: C1527306
Disease: spasmus nutans
spasmus nutans
disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008