Browse Rare Disease Information

The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.

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	Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links

Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links
Congenital Non-bullous Ichthyosiform Erythroderma Arci2 Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form	ABCA12 TGM1 ALOXE3 CERS3 NIPAL4 PNPLA1 ALOX12B	Gene Disease Literature AI	Disease Literature AI (483)	GARD: 0009736 OMIM: 615023 Orphanet: 79394	PubMed
Harlequin Ichthyosis 'harlequin Fetus' Arci4b	ABCA12	Gene Disease Literature AI	Disease Literature AI (3112)	GARD: 0006568 OMIM: 242500 Orphanet: 457	PubMed
Ichthyosis, Congenital, Autosomal Recessive 1 1 Arci1	TGM1	Gene Disease Literature AI	Disease Literature AI (5106)	GARD: 0003170 Orphanet: 313	PubMed
Ichthyosis, Congenital, Autosomal Recessive 4a 2 Arci4a	ABCA12	Gene Disease Literature AI	Disease Literature AI (21131)	GARD: 0009733	PubMed
Ichthyosis, Congenital, Autosomal Recessive 5 3 Arci5	CYP4F22	Gene Disease Literature AI	Disease Literature AI (6305)	GARD: 0009734	PubMed
Ichthyosis-hypotrichosis Syndrome Arci11 Arih	ST14	Gene Disease Literature AI	Disease Literature AI (565)	GARD: 0010116 OMIM: 602400 Orphanet: 91132	PubMed

Showing 1 to 6 of 6 entries (filtered from 2,142 total entries)