Results for "Athabaskan Severe Combined Immunodeficiency": 6 genes

Name

HYPLIP2 Gene

hyperlipidemia, combined, 2

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset