Harmonizome 3.0

Heart rate QTL 1

heart and neural crest derivatives expressed 2

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

Progressive familial heart block, type II

heart development protein with EGF-like domains 1

Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Mar 2025]

Progressive familial heart block, type I, locus 1

Coronary heart disease, susceptibility to, 4

heart and neural crest derivatives expressed 1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [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]

fatty acid binding protein 3, muscle and heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Congenital heart defects, multiple types, 3

Coronary heart disease, susceptibility to, 3

Coronary heart disease, susceptibility to, 2

Coronary heart disease, susceptibility to, 1

Coronary heart disease, suscpetibility to, 9

Coronary heart disease, susceptibility to, 8

Ciliary dyskinesia, primary, 4

Cholangitis, primary sclerosing

primary cilia formation

Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in ciliary basal body and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

Intestinal pseudoobstruction, neuronal, primary idiopathic

primary pulmonary hypertension 2

Primary lateral sclerosis, adult, 1

myeloid differentiation primary response 88

This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

primary retinal dysplasia

glaucoma 3, primary infantile, B

glaucoma 3, primary congenital, C

Hypoalphalipoproteinemia, primary

membrane primary amine oxidase-like

Ciliary dyskinesia, primary, 8

Biliary cirrhosis, primary, 3

Biliary cirrhosis, primary, 2

Biliary cirrhosis, primary, 5

Biliary cirrhosis, primary, 4

deleted in primary ciliary dyskinesia homolog (mouse)

This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]