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: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.090 None 1.000 9 1994 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.080 None 1.000 8 1996 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.040 None 1.000 4 2005 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2006 2017
CUI: C0742035
Disease: Cerebellar lesion NOS
Cerebellar lesion NOS 		disease Disease or Syndrome 9 0.020 None 1.000 2 2017 2019
CUI: C1112324
Disease: Multifocal micronodular pneumocyte hyperplasia
Multifocal micronodular pneumocyte hyperplasia 		disease Disease or Syndrome 6 0.020 None 1.000 2 2001 2001
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.020 None 1.000 2 2017 2018
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.020 None 1.000 2 2009 2016
CUI: C4479709
Disease: FCD IIB
FCD IIB 		disease Disease or Syndrome 15 2 0.020 None 1.000 2 2006 2007
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2019 2019
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		disease Neoplastic Process 145 9 0.010 None 1.000 1 2011 2011
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C0334054
Disease: cystic disease
cystic disease 		disease Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2017 2017
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2018 2018
CUI: C1302778
Disease: Congenital lymphatic malformation
Congenital lymphatic malformation 		disease Congenital Abnormality 1 0.010 None 1.000 1 2020 2020
CUI: C1708998
Disease: Metastatic Adrenal Gland Pheochromocytoma
Metastatic Adrenal Gland Pheochromocytoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		disease Congenital Abnormality 22 3 0.010 None 1.000 1 2013 2013
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2019 2019
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
CUI: C4285911
Disease: C5 palsy
C5 palsy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C4525743
Disease: Rectal Neuroendocrine Tumor
Rectal Neuroendocrine Tumor 		disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018