MAMLD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Differences in sex development

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• hypospadias 2, X-linked

  0.66

• cancer

  0.58

• hypospadias

  0.51

• posterior hypospadias

  0.37

• 46,XY ovotesticular disorder of sex development

  0.34

• Abnormality of refraction

  0.31

• refractive error

  0.31

• response to vaccine

  0.28

• hereditary disease

  0.19

• disorder of sexual differentiation

  0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)