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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 **10276 - 10300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	SGCD SGCG SGCZ	137868 6444 6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110247	cataract 36 Aliases: CATC4 CTRCT36 autosomal recessive congenital cataract 4	TDRD7	23424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	COL4A3 COL4A4 COL4A5 HLA-DRB1 MMP3	1285 1286 1287 3123 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	MFRP	83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ABCA1 ABCB1 ABCG8 ADIPOQ ALB APOB APOC2 APOE BCHE CCL2 CD40LG CYP2E1 F3 F7 GFPT1 HSD11B1 HSPA1B ITGAM KL LCAT LDLR LEP LIPC LPL MMP9 NOS3 RGN SDC1 SERPINC1 SERPINF2 SHC1 SMARCD1 TFPI TGFB1 VCAM1	1571 19 213 2152 2155 2673 3290 3304 338 344 348 3684 3931 3949 3952 3990 4023 4318 462 4846 5243 5345 590 6347 6382 64241 6464 6602 7035 7040 7412 9104 9365 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	CCN1	3491	Homo sapiens (human)	Alliance of Genome Resources
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	PRKAR1A PTEN	5573 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	SERPINB7 SERPINE1 SERPINE2 SERPINI1 SERPINI2	5054 5270 5274 5276 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	XIAP	331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	Alliance of Genome Resources
DOID:4031	eosinophilic gastroenteritis	IL5	3567	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Aliases: PAMDDFS	TUBGCP2	10844	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	COL4A2	1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources

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