Mutation Databases
The University of Utah Department of Pathology and ARUP Laboratories hosts a growing number of human gene variant-disease database collections.
Each database relies on both medical and molecular expertise, and uniquely displays sequence variation and clinical information together.
- ACVRL1 Database
- ALPORT (COL4A5)
- Biotinidase Deficiency (BTD)
- BRCA Database - Home
- ENG Database
- Galactosemia (GALT)
- Juvenile Polyposis Syndrome (SMAD4)
- Legius Syndrome (SPRED1)
- Multiple Endocrine Neoplasia type 2 (RET)
- Primary Carnitine Deficiency (SLC22A5)
- Pulmonary Arterial Hypertension (BMPR2)
- RASA1-related disorders