KRT74

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ectodermal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ectodermal dysplasia without a known gene mutation

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Non-syndromic hypotrichosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• hypotrichosis 3

  0.67

• autosomal dominant wooly hair

  0.65

• ectodermal dysplasia 7, hair/nail type

  0.51

• hypotrichosis simplex of the scalp

  0.46

• pure hair and nail ectodermal dysplasia

  0.45

• Woolly hair

  0.37

• isolated familial wooly hair disorder

  0.37

• hypotrichosis

  0.02

• breast carcinoma

  0.02

• non-small cell lung carcinoma

  0.01

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

Protein function (UniProt)