DISEASES

Disease-gene associations mined from literature

Literature associating NHS and epidermolysis bullosa simplex Ogna type

NHS [ENSP00000369400]

Nance-Horan syndrome (congenital cataracts and dental anomalies); May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development; Belongs to the NHS family.

Synonyms:  NHS,  Q6T4R5,  Q6T4R5p,  hQ6T4R5,  302300 ...

Linkouts:  STRING  Pharos  UniProt  OMIM