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: C1717804
Disease: Emphysema or COPD
Emphysema or COPD
disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
disease Eye Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2000 2000
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 118 12 0.010 None 1.000 1 2016 2016
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality 19 6 0.010 None 1.000 1 2013 2013
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
disease Neoplasms Neoplastic Process 84 12 0.010 None 1.000 1 1998 1998
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2018 2018
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.010 None 1.000 1 2008 2008
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections
phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.010 None 1.000 1 2018 2018
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.010 None 1.000 1 2020 2020
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2012 2012
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders
group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2017 2017
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 260 78 0.010 None 1.000 1 1985 1985
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2018 2018
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.010 None 1.000 1 1985 1985
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2019 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2019 2019
CUI: C0221500
Disease: Effects of heat
Effects of heat
phenotype Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0221214
Disease: Vascular ring
Vascular ring
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C0221155
Disease: Systolic hypertension
Systolic hypertension
disease Cardiovascular Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2009 2009
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.010 None 1.000 1 2018 2018
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 160 6 0.010 None < 0.001 1 2008 2008
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2019 2019
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 2016 2016
CUI: C0154307
Disease: Banti's syndrome
Banti's syndrome
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2012 2012