Harmonizome 3.0

Cataract, posterior polar, 5

Cataract, posterior polar

cataract, anterior polar 1

cataract, anterior polar 2

transmembrane anterior posterior transformation 1

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

mesoderm posterior basic helix-loop-helix transcription factor 1

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in myocardial infarction. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025]

mesoderm posterior basic helix-loop-helix transcription factor 2

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]

ossification of posterior longitudinal ligament of spine

cataract, congenital, with microphthalmia

Cataract, congenital cerulean type, 5

Cataract, autosomal recessive congenital 3

cataract, congenital nuclear, autosomal recessive

Cataract, central pouch-like, with sutural opacities

Cataract, congenital, nuclear progressive

Cataract 28

cataract, pulverulent (autosomal recessive, early-onset)

cataract, congenital, cerulean type, 1

cataract, congenital, total

cataract, congenital, Volkmann type

Cataract 29, coralliform

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities