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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 **11701 - 11725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	Ihh	16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Ihh Mutyh	16147 70603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	DGKA DGKB DGKG EIF2S3 GCK HK1 HK2 HK3 HKDC1 IGF1R INSR INSRR IRS1 IRS2 IRS4 KCNH6 PIK3CB PIK3CD RPS6KB1 TLR4 TLR5	1606 1607 1608 1968 2645 3098 3099 3101 3480 3643 3645 3667 5291 5293 6198 7099 7100 80201 81033 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	DAG1 SGCA	1605 6442	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	DAG1 FKTN	1605 2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)	Alliance of Genome Resources
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	CD55	1604	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	ANGPT1 ANGPT2 ARID1A CD55 FOXO3 GPX3 KRAS PTGES TGFBR3 TP53	1604 2309 284 285 2878 3845 7049 7157 8289 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	Igfbp3 Krt2	16009 16681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	Igf2r	16004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2 Igfals Igfbp3 Pmm1 Pmm2	16002 16005 16009 29858 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	Igf1r Met Slc2a2	16001 17295 20526	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4248	coronary stenosis Aliases: Coronary artery stenosis	Igf1r Itgav Lmcd1 Pecam1 Phactr1 Tnfrsf11b	16001 16410 18383 18613 218194 30937	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	Igf1r Igf2	16001 16002	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050984	spinocerebellar ataxia type 37	DAB1	1600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080451	developmental and epileptic encephalopathy 29 Aliases: DEE29 early infantile epileptic encephalopathy 29	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N Aliases: CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:7319	axonal neuropathy	AARS1 AARS2	16 57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	AARS1 MARS1	16 4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	AARS1 AARS2 ANGPTL2 CCR2 CD36 CD40 CD40LG CX3CL1 FAS HGF IFNG IL4 MBL2 MMP9 PMS1 ROBO1 SLIT2 STAT4 THBD TLR2 TLR4 TLR9	16 23452 3082 3458 355 3565 4153 4318 5378 54106 57505 6091 6376 6775 7056 7097 7099 729230 9353 948 958 959	Homo sapiens (human)	Alliance of Genome Resources

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