TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 71 7 1982 2018
CUI: C0342623
Disease: Senile systemic amyloidosis
Senile systemic amyloidosis
disease Disease or Syndrome 3 2 0.100 None 1.000 25 2 1985 2019
CUI: C4509024
Disease: Senile systemic amyloidosis (SSA)
Senile systemic amyloidosis (SSA)
disease Disease or Syndrome 3 1 0.100 None 1.000 22 1 1985 2014
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
disease Neoplastic Process 48 6 0.100 None 1.000 18 2 1985 2014
Danish type familial amyloid cardiomyopathy
disease Disease or Syndrome 2 2 0.100 None 1.000 13 2 1988 2017
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis
disease Disease or Syndrome 3 2 0.080 None 1.000 8 1 2014 2020
CUI: C0339562
Disease: Amyloid of vitreous
Amyloid of vitreous
disease Disease or Syndrome 1 1 0.030 None 1.000 3 1 1992 2011
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.020 None 1.000 2 1 2007 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2019
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
Hereditary cardiac amyloidosis
disease Disease or Syndrome 2 1 0.020 None 1.000 2 1 1999 2008
CUI: C3468338
Disease: CARPAL TUNNEL SYNDROME, FAMILIAL
CARPAL TUNNEL SYNDROME, FAMILIAL
disease Disease or Syndrome 1 1 0.120 None 1.000 2 1 1994 2001
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 384 40 0.020 None 1.000 2 1 2007 2009
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.020 None 1.000 2 2002 2018
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration
phenotype Sign or Symptom 27 1 0.020 None 0.500 2 1992 2019
Heart failure with preserved ejection fraction [HFpEF]
disease Disease or Syndrome 89 4 0.020 None 1.000 2 2019 2020
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age
phenotype Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0276622
Disease: Acute viral hepatitis
Acute viral hepatitis
disease Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2017 2017
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer
disease Neoplastic Process 65 0.010 None 1.000 1 2018 2018
CUI: C0311276
Disease: Severe malnutrition
Severe malnutrition
disease Disease or Syndrome 13 1 0.010 None 1.000 1 2018 2018
CUI: C0546394
Disease: Nodular cutaneous amyloidosis
Nodular cutaneous amyloidosis
disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0555278
Disease: Cerebral metastasis
Cerebral metastasis
disease Neoplastic Process 16 0.010 None 1.000 1 1990 1990
CUI: C0741923
Disease: cardiac event
cardiac event
phenotype Disease or Syndrome 82 18 0.010 None 1.000 1 2018 2018
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2009 2009
CUI: C0849888
Disease: psychological disturbance
psychological disturbance
disease Mental or Behavioral Dysfunction 2 1 0.010 None 1.000 1 1 2018 2018