Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4022855 Abnormal involuntary eye movements disease Anatomical Abnormality Abnormality of the eye 2 2
C1832160 Abnormality of temperature regulation phenotype Finding Abnormality of metabolism/homeostasis 3 3
C0431448 Absent eyebrow disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16 96
C0206686 Adrenocortical carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 7 34
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 5 5
C0917804 Arteriovenous Malformations, Cerebral group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the cardiovascular system 3 4
C0004045 Asphyxia Neonatorum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 4 4
C2674727 ASTROCYTOMA, LOW-GRADE, SOMATIC disease Finding 1 1
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 13 118
C0677865 Brain Stem Glioma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 10 45
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 18 32
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 28
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 4 70
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 23 25
C1332969 Childhood Ganglioglioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C0023434 Chronic Lymphocytic Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 11 51
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2 3
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 43 100
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 31 216
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 15 26