Harmonizome 3.0

polycystic kidney disease, infantile severe, with tuberous sclerosis

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]

Usher syndrome 1E (autosomal recessive, severe)

Mental retardation, severe, with spasticity and tapetoretinal

Pulmonary disease, chronic obstructive, severe early-onset

limb development membrane protein 1-like

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

limb girdle muscular dystrophy 1H (autosomal dominant)

limb girdle muscular dystrophy 1G (autosomal dominant)

limb development membrane protein 1

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

limb bud and heart development

Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)