Harmonizome 3.0

torticollis, keloids, cryptorchidism and renal dysplasia

diffuse panbronchiolitis critical region 1

Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

diffuse panbronchiolitis critical region 1 pseudogene

diffuse panbronchiolitis critical region 1 pseudogene

diffuse panbronchiolitis critical region 1 pseudogene

diffuse panbronchiolitis critical region 1 pseudogene

Renal hypodysplasia, nonsyndromic, 1

Papillary thyroid carcinoma with papillary renal neoplasia

Beta-amino acids, renal transport of

Renal failure, progressive, with hypertension

glycosuria 1, renal

papillary renal cell carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

disrupted in renal carcinoma 1

Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]

disrupted in renal carcinoma 3

disrupted in renal carcinoma 2

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

dipeptidase 1 (renal)

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]

proline rich 5 (renal)

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

Beukes familial hip dysplasia

Osteoarthritis, generalized, without dysplasia, susceptibility to

anal sphincter dysplasia

Ectodermal dysplasia 5, hair/nail type

Ectodermal dysplasia 7, hair/nail type

Ectodermal dysplasia 6, hair/nail type

adrenocortical dysplasia homolog (mouse)

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

Spondyloepiphyseal dysplasia tarda, autosomal dominant

Acetabular dysplasia

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

Developmental dysplasia of the hip 2

Ectodermal dysplasia 8, hair/tooth/nail type

Nail dysplasia, isolated congenital

Ectodermal dysplasia-syndactyly syndrome 2

primary retinal dysplasia

Acropectorovertebral dysplasia (F syndrome)

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

mental retardation-skeletal dysplasia

Mesomelic dysplasia, Kantaputra type

Otodental dysplasia chromosome deletion syndrome

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1