GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8951 - 8975** of **15957** in total

« First

‹ Prev

…

355

356

357

358

359

360

361

362

363

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	43563	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111499	combined oxidative phosphorylation deficiency 37 Aliases: COXPD37	Micos13	224904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Minpp1	17330	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Minpp1	29688	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Mipp1 fs(1)h	31722 39841	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	Mipp1	39841	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	Mitf Tgfb1	17342 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090002	Tietz syndrome Aliases: Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	Mki67	17345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	Mlh1 Msh6 Rnaset2a Rnaset2b Slc22a19 Slc22a26 Slc22a27 Slc22a28 Slc22a29 Slc22a30 Tgfbr2 Trp53	100037283 171405 17350 17688 207151 21813 22059 236149 236293 319800 434674 68195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	Mlh1	17350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	Mlh1	17350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	Mllt10	17354	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13250	diarrhea	Mme Slc26a3	13487 17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13250	diarrhea	Mme Slc26a3	114629 24590	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	Mme	24590	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	Mme	24590	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	Mmp12	117033	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements