FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
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: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.700 limited 1.000 15 5 2002 2018
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 5 0.700 strong 1.000 8 5 2002 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.370 limited 0.857 7 5 2004 2016
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 119 49 0.070 None 0.857 7 2 2009 2019
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		disease Disease or Syndrome 1 12 0.400 None 1.000 6 12 2004 2013
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.050 None 1.000 5 2003 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.030 None 1.000 3 2009 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.030 None 1.000 3 2009 2018
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 5 0.030 None 0.667 3 2006 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.030 None 1.000 3 2009 2018
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.320 None 1.000 3 2002 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2016 2019
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.120 None 1.000 2 2010 2015
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.020 None 0.500 2 2010 2016
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.020 None 1.000 2 2005 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2016 2019
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.020 None 1.000 2 2016 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2014 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.020 None 1.000 2 2016 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.110 None 1.000 1 2020 2020
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2011 2011
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2011 2011
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2018 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None 1.000 1 2011 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2009 2009