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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2004 2004
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: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2004 2004
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.010 None < 0.001 1 2006 2006
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.010 None 1.000 1 2018 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None 1.000 1 2006 2006
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 1 2011 2011
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2004 2004
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.010 None 1.000 1 2010 2010
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2004 2004
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2017 2017
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2018 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2015 2015
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 2020 2020
CUI: C0343466
Disease: Type 2 lepra reaction
Type 2 lepra reaction 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.010 None 1.000 1 2019 2019
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 429 74 0.010 None < 0.001 1 1999 1999
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2003 2003
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		disease Neoplasms; Infections Neoplastic Process 488 15 0.010 None 1.000 1 2011 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2016 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.010 None 1.000 1 2019 2019
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2008 2008
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 261 19 0.010 None 1.000 1 2018 2018