Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C0018681 Headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 19 23
C0079924 Oligohydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 17 21
C0401149 Chronic constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 14 15
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 13 20
C0600104 Obsessive compulsive behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 9 9
C0030554 Paresthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 8 8
C0037763 Spasm phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 7 8
C0428465 Serum lipids high (finding) phenotype Finding 7 7
C2673700 Brisk reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 7 7
C0020438 Hypercalciuria phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 6 5
C0151480 Anti-nuclear factor positive phenotype Skin and Connective Tissue Diseases Laboratory or Test Result Abnormality of the immune system 3 3
C0042109 Urticaria disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the cardiovascular system 3 2
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 2 3
C4023353 Abnormality of coordination phenotype Finding Abnormality of the nervous system 2 3
C4324314 Primary familial brain calcification disease Nutritional and Metabolic Diseases Congenital Abnormality 2 3
C0085610 Sinus bradycardia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 2 2
C4551624 Idiopathic basal ganglia calcification 1 disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 15
C1389280 Basal ganglia calcification phenotype Pathologic Function Abnormality of the nervous system; Abnormality of the skeletal system 1 3
C0236000 Jaw pain phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom Constitutional symptom 1 1
C0685661 Congenital anomaly of ischium disease Congenital Abnormality Abnormality of the skeletal system 1 1
C1611184 Calcification of coronary artery phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 1 1
C1854913 Soft tissue swelling of interphalangeal joints phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1