Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3891448 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO disease Finding 7 17
C2750850 GLIOMA SUSCEPTIBILITY 1 phenotype Finding 5 8
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4 8
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 3 11
C0268363 Osteogenesis imperfecta type IV (disorder) disease Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 2 26
C1838990 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL disease Finding 2 1
C1855465 STARGARDT DISEASE 1 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 2 176
C3150902 C1q DEFICIENCY disease Disease or Syndrome 2 1
C3715082 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 disease Disease or Syndrome disease of anatomical entity 2 3
C4552122 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 disease Disease or Syndrome disease of anatomical entity 2 3
C4746745 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease 2 13
C0220721 CATARACT 46, JUVENILE-ONSET disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 1 3
C0268418 Deficiency of glycerol kinase disease Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 1 0
C0342765 D-Glyceric aciduria disease Disease or Syndrome 1 1
C0544855 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 phenotype Congenital Abnormality disease of anatomical entity 1 0
C0796218 MENTAL RETARDATION, X-LINKED 12 disease Disease or Syndrome 1 4
C0796221 MENTAL RETARDATION, X-LINKED 15 disease Disease or Syndrome genetic disease; disease of mental health 1 1
C1291463 Deficiency of phosphoserine phosphatase disease Disease or Syndrome genetic disease; disease of metabolism 1 2
C1291564 Deficiency of aromatic-L-amino-acid decarboxylase disease Disease or Syndrome genetic disease; disease of metabolism 1 8
C1291607 Deficiency of maleylacetoacetate isomerase disease Disease or Syndrome 1 0
C1414017 DEAFNESS, AUTOSOMAL RECESSIVE 25 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 4
C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL disease Disease or Syndrome physical disorder 1 1
C1824925 DEAFNESS, AUTOSOMAL RECESSIVE 70 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1833247 SCHIZOPHRENIA 4 (disorder) disease Disease or Syndrome genetic disease; disease of mental health 1 7