All conditions under C

All 200+ conditions are caused by changes to specific genes. These genes are shown underneath each condition.

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Conditions

  • Carbamoyl phosphate synthetase I deficiency

    Associated gene: CPS1

  • Carnitine-acylcarnitine translocase deficiency

    Associated gene: SLC25A20

  • Carnitine palmitoyltransferase I deficiency

    Associated gene: CPT1A

  • Carnitine palmitoyltransferase II deficiency infantile

    Associated gene: CPT2

  • Cerebral creatine deficiency syndrome
    2 associated genes
    • GAMT
    • GATM
  • Cerebrotendinous xanthomatosis

    Associated gene: CYP27A1

  • Chediak-Higashi Syndrome

    Associated gene: LYST

  • Chronic granulomatous disorder
    5 associated genes
    • CYBB
    • CYBA
    • NCF2
    • NCF4
    • CYBC1
  • Chylomicron retention disease

    Associated gene: SAR1B

  • Citrullinaemia

    Associated gene: ASS1

  • Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia

    Associated gene: MTHFD1

  • Combined pituitary hormone deficiency
    4 associated genes
    • PROP1
    • POU1F1
    • HESX1
    • LHX3
  • Congenital adrenal hyperplasia
    3 associated genes
    • CYP11B1
    • HSD3B2
    • CYP17A1
  • Congenital adrenal hypoplasia

    Associated gene: NR0B1

  • Congenital adrenal insufficiency with 46XY DSD

    Associated gene: CYP11A1

  • Congenital bile acid synthesis defect
    4 associated genes
    • HSD3B7
    • AKR1D1
    • CYP7B1
    • AMACR
  • Congenital diarrhoea
    6 associated genes
    • DGAT1
    • SLC26A3
    • SLC9A3
    • EPCAM
    • SPINT2
    • NEUROG3
  • Congenital disorder of glycosylation, type It

    Associated gene: PGM1

  • Congenital erythropoietic porphyria

    Associated gene: UROS

  • Congenital generalised lipodystrophy
    4 associated genes
    • AGPAT2
    • BSCL2
    • CAV1
    • CAVIN1
  • Congenital hyperinsulinism
    6 associated genes
    • HADH
    • ABCC8
    • KCNJ11
    • HK1
    • PMM2
    • GCK
  • Congenital hypoaldosteronism

    Associated gene: CYP11B2

  • Congenital hypothyroidism
    14 associated genes
    • DUOX2
    • DUOXA2
    • TPO
    • TG
    • SLC5A5
    • SLC26A7
    • TSHR
    • TRHR
    • PAX8
    • IYD
    • IGSF1
    • TBL1X
    • IRS4
    • TSHB
  • Congenital Myasthenic Syndrome
    22 associated genes
    • CHRNE
    • AGRN
    • ALG14
    • SYT2
    • CHAT
    • CHRNA1
    • CHRNB1
    • CHRND
    • COL13A1
    • COLQ
    • DOK7
    • DPAGT1
    • ALG2
    • GFPT1
    • MUSK
    • PREPL
    • RAPSN
    • SLC18A3
    • SLC25A1
    • SLC5A7
    • VAMP1
    • SCN4A
  • Congenital prothrombin deficiency

    Associated gene: F2

  • Congenital sucrase-isomaltase deficiency

    Associated gene: SI

  • Crigler-Najjar syndrome Type I

    Associated gene: UGT1A1

  • Cystic fibrosis

    Associated gene: CFTR

  • Cystinosis

    Associated gene: CTNS

  • cytochrome P450 oxidoreductase deficiency

    Associated gene: POR