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: C4707795
Disease: Isolated focal cortical dysplasia
Isolated focal cortical dysplasia
disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 1994 1994
CUI: C0442880
Disease: Periungual fibroma
Periungual fibroma
disease Neoplasms Neoplastic Process 2 0.100 None 0
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 2 2002 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 2 2002 2017
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis
disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 3 0.100 None 0
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: C4021899
Disease: Premature chromatid separation
Premature chromatid separation
phenotype Cell or Molecular Dysfunction 3 0.100 None 0
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.200 None 0
CUI: C0024224
Disease: lymphangiosarcoma
lymphangiosarcoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 21 0.010 None 1.000 1 2006 2006
CUI: C0242426
Disease: Chylopericardium
Chylopericardium
disease Cardiovascular Diseases Disease or Syndrome 4 0.100 None 0
Other congenital malformations of anterior segment of eye
disease Congenital Abnormality 4 0.200 None 0
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma
disease Neoplastic Process 4 0.100 None 0
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule
phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 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
Multifocal micronodular pneumocyte hyperplasia
disease Disease or Syndrome 6 0.030 None 1.000 3 2001 2019
CUI: C0496892
Disease: Benign neoplasm of kidney
Benign neoplasm of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 6 0.010 None 1.000 1 2010 2010
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures
disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 6 1 0.110 None 1.000 1 1 2018 2018
CUI: C1527306
Disease: spasmus nutans
spasmus nutans
disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008