Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1834870 MIRROR MOVEMENTS 1 phenotype Finding 1 6
C1835044 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 disease Finding 1 19
C1836892 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 disease Finding 1 3
C1837007 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT disease Disease or Syndrome genetic disease; disease of anatomical entity 1 3
C1837213 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO disease Finding genetic disease; syndrome; physical disorder 1 1
C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 disease Finding 1 6
C1838564 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 disease Finding 1 2
C1839841 SPERMATOGENIC FAILURE, X-LINKED, 2 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 2
C1840437 Isolated hyperchlorhidrosis phenotype Finding genetic disease; disease of anatomical entity 1 2
C1842675 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 1 12
C1843244 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 disease Disease or Syndrome disease of anatomical entity 1 1
C1843792 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED disease Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health 1 1
C1844853 Brachytelephalangic Chondrodysplasia Punctata disease Disease or Syndrome genetic disease; syndrome 1 2
C1845341 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder) disease Disease or Syndrome 1 0
C1845540 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding) disease Finding 1 0
C1846862 PARKINSON DISEASE 8 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 1 30
C1853202 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO disease Finding 1 1
C1853508 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 disease Finding 1 4
C1853755 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY disease Disease or Syndrome 1 4
C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY disease Disease or Syndrome genetic disease; disease of metabolism 1 47
C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1858535 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity; physical disorder 1 5
C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA disease Finding genetic disease; disease of metabolism 1 1
C1860238 WOOLLY HAIR, AUTOSOMAL DOMINANT disease Finding 1 1
C1860752 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 disease Disease or Syndrome disease of anatomical entity 1 9