Source: CLINVAR ×
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: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 312 1.000 None 0.982 8 311 1978 2020
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 6 0.600 None 1.000 3 6 1978 2016
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		disease Disease or Syndrome 1 11 0.600 None 1.000 0 11 2000 2012
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 14 0.130 None 1.000 0 7 2010 2018
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease Eye Diseases Disease or Syndrome 1 88 0.110 None 1.000 0 88 2009 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 12 72 0.110 None 1.000 0 3 2000 2000
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 21 29 0.100 None 1.000 2 2 2001 2003
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 131 0.100 None 0 130
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 28 0.100 None 0 10
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 5 54 0.100 None 0 50
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 2
CUI: C1168153
Disease: Arterial calcification
Arterial calcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 1 1 0.100 None 0 1
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		phenotype Finding 1 16 0.100 None 0 16
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
Abnormally lax or hyperextensible skin 		phenotype Anatomical Abnormality 3 53 0.100 None 0 49
CUI: C4025265
Disease: Medial calcification of large arteries
Medial calcification of large arteries 		phenotype Pathologic Function 1 1 0.100 None 0 1
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		phenotype Finding 1 107 0.100 None 0 107
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 19 0.100 None 0 1
CUI: C0152169
Disease: Renal Colic
Renal Colic 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 2 0.100 None 0 2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 3 0.100 None 0 1
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 9 0.100 None 0 1
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 1 24 0.100 None 0 24
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 4 5 0.100 None 0 2
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 25 28 0.100 None 0 2
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 65 0.100 None 0 65
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 25 0.100 None 0 18