All conditions under H

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

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Conditions

  • Haemophilia A

    Associated gene: F8

  • Haemophilia B

    Associated gene: F9

  • Hepatic venoocclusive disease with immunodeficiency

    Associated gene: SP110

  • Hepatoerythropoietic porphyria

    Associated gene: UROD

  • Hereditary folate malabsorption

    Associated gene: SLC46A1

  • Hereditary fructose intolerance

    Associated gene: ALDOB

  • Heritable Retinoblastoma

    Associated gene: RB1

  • Hermansky-Pudlak syndrome
    2 associated genes
    • AP3B1
    • AP3D1
  • HMG-CoA lyase deficiency

    Associated gene: HMGCL

  • HMG-CoA synthase-2 deficiency

    Associated gene: HMGCS2

  • Holocarboxylase synthetase deficiency

    Associated gene: HLCS

  • Homocystinuria

    Associated gene: CBS

  • Homocystinuria-megaloblastic anaemia
    2 associated genes
    • MTRR
    • MTR
  • Homozygous Familial hypercholesterolaemia
    4 associated genes
    • LDLR
    • LDLRAP1
    • APOB
    • PCSK9
  • Homozygous Variegate Porphyria

    Associated gene: PPOX

  • Hyperinsulinism-hyperammonaemia syndrome

    Associated gene: GLUD1

  • Hypermanganesaemia with dystonia

    Associated gene: SLC30A10

  • Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

    Associated gene: SLC25A15

  • Hyperphenyalaninaemia
    2 associated genes
    • PTS
    • QDPR
  • Hypobetalipoproteinaemia

    Associated gene: APOB

  • Hypohidrotic ectodermal dysplasia
    3 associated genes
    • EDA
    • EDAR
    • EDARADD
  • Hypophosphataemic rickets
    4 associated genes
    • PHEX
    • FGF23
    • SLC34A3
    • DMP1
  • Hypophosphatasia

    Associated gene: ALPL