TSC2, TSC complex subunit 2, 7249

N. diseases: 13; N. variants: 244
Source: CLINVAR ×
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: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 20 1.000 definitive 0.980 27 16 1994 2020
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 1 210 0.800 None 0.992 96 210 1995 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 15 0.800 strong 0.986 0 10 1998 2020
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 19 0.700 None 1.000 0 9 2009 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 19 70 0.380 None 1.000 1 2 2011 2019
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease Neoplasms Neoplastic Process 4 5 0.200 None 1.000 0 1 1994 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 26 98 0.200 None 0.971 0 2 1990 2020
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 21 22 0.160 None 1.000 0 1 2001 2014
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 1 1 0.130 None 1.000 0 1 2006 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 62 0.120 None 0.500 0 1 1999 2018
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385 0.110 None 1.000 30 29 1994 2017
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		phenotype Finding 1 4 0.100 None 0 2