ELN, elastin, 2006

N. diseases: 545; N. variants: 61
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: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.010 None 1.000 1 2019 2019
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 79 14 0.010 None 1.000 1 2017 2017
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2017 2017
CUI: C0037278
Disease: Skin Diseases, Infectious
Skin Diseases, Infectious 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 74 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome; Anatomical Abnormality 16 2 0.010 None 1.000 1 2008 2008
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 163 7 0.010 None 1.000 1 2017 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 370 195 0.010 None < 0.001 1 2018 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2018 2018
CUI: C3178892
Disease: Pelvic Floor Disorders
Pelvic Floor Disorders 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.010 None 1.000 1 2018 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.010 None 1.000 1 2018 2018
CUI: C0024473
Disease: Magnesium Deficiency
Magnesium Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C3264562
Disease: Buried penis
Buried penis 		disease Congenital Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2009 2009
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2012 2012
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2017 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2018 2018
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.010 None 1.000 1 1988 1988
CUI: C2350875
Disease: Constrictive Bronchiolitis
Constrictive Bronchiolitis 		disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2007 2007
CUI: C2242658
Disease: Aortic dissection rupture
Aortic dissection rupture 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 37 23 0.010 None 1.000 1 2016 2016
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		disease Eye Diseases Disease or Syndrome 63 5 0.010 None 1.000 1 2018 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.010 None 1.000 1 1990 1990
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 120 1 0.010 None 1.000 1 2016 2016