Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 427 32
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C1282496 Metastasis from malignant tumor of prostate disease Neoplastic Process 342 18
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288 29
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284 39
C0423109 Upward slant of palpebral fissure phenotype Finding Abnormality of head or neck 216 16
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 212 9
C0026985 Myelodysplasia disease Congenital Abnormality 181 4
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 154 26
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C3495917 Advanced breast cancer disease Neoplastic Process 151 3
C1857679 Sloping forehead phenotype Finding Abnormality of head or neck 149 5
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 121 11
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 104 131
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 95 8
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 91 16