Browse Genes Associated with Rare Diseases

The table below displays a list of all genes contained within RARe-SOURCE™, which are associated with rare diseases. The table lists rare diseases linked to the gene, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the gene name, displays its genomic location, disease associations obtained from other data sources, and most recent publications on the gene from PubMed. Clicking on the associated rare disease lands on the ‘Rare Disease Information’ page with specific details on the disease.

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	Gene Information	Associated Rare Diseases	Gene Disease Annotations	Gene Annotations	Gene IDs	Links

Gene Information	Associated Rare Diseases	Gene Disease Annotations	Gene Annotations	Gene IDs	Links
PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	Bruck syndrome Bruck syndrome 2	Gene Disease Literature AI	Variants (35292) 3D Protein Structure Gene Literature AI (895)	Entrez: 5352 Ensembl: ENSG00000152952 HGNC: 9082	PubMed GARD Information
PMPCA peptidase, mitochondrial processing subunit alpha	Autosomal recessive cerebelloparenchymal disorder type 3	Gene Disease Literature AI	Variants (7407) 3D Protein Structure Gene Literature AI (225)	Entrez: 23203 Ensembl: ENSG00000165688 HGNC: 18667	PubMed GARD Information
PROC protein C, inactivator of coagulation factors Va and VIIIa	Thrombophilia due to protein c deficiency, autosomal recessive	Gene Disease Literature AI	Variants (5502) 3D Protein Structure Gene Literature AI (15350)	Entrez: 5624 Ensembl: ENSG00000115718 HGNC: 9451	PubMed GARD Information
PRPF3 pre-mRNA processing factor 3	Retinitis pigmentosa	Gene Disease Literature AI	Variants (16320) 3D Protein Structure Gene Literature AI (106)	Entrez: 9129 Ensembl: ENSG00000117360 HGNC: 17348	PubMed GARD Information
PRPF31 pre-mRNA processing factor 31	Retinitis pigmentosa	Gene Disease Literature AI	Variants (5992) 3D Protein Structure Gene Literature AI (261)	Entrez: 26121 Ensembl: ENSG00000105618 HGNC: 15446	PubMed GARD Information
PRPF4 pre-mRNA processing factor 4	Retinitis pigmentosa	Gene Disease Literature AI	Variants (7588) 3D Protein Structure Gene Literature AI (88)	Entrez: 9128 Ensembl: ENSG00000136875 HGNC: 17349	PubMed GARD Information
PRPF6 pre-mRNA processing factor 6	Retinitis pigmentosa	Gene Disease Literature AI	Variants (16354) 3D Protein Structure Gene Literature AI (710)	Entrez: 24148 Ensembl: ENSG00000101161 HGNC: 15860	PubMed GARD Information
PRPF8 pre-mRNA processing factor 8	Retinitis pigmentosa	Gene Disease Literature AI	Variants (12333) 3D Protein Structure Gene Literature AI (446)	Entrez: 10594 Ensembl: ENSG00000174231 HGNC: 17340	PubMed GARD Information
RMRP RNA component of mitochondrial RNA processing endoribonuclease	Anauxetic dysplasia Omenn syndrome Cartilage-hair hypoplasia	Gene Disease Literature AI	Variants (146) 3D Protein Structure Gene Literature AI (825)	Entrez: 6023 Ensembl: ENSG00000277027 HGNC: 10031	PubMed GARD Information

Showing 1 to 9 of 9 entries (filtered from 2,901 total entries)