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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4826 - 4850** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	557187	Danio rerio (zebrafish)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1.S	108699937	Xenopus laevis (African clawed frog)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	99011	Mus musculus (house mouse)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	rt	39297	Drosophila melanogaster (fruit fly)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1	569769	Danio rerio (zebrafish)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	84430	Rattus norvegicus (Norway rat)
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0050557	congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0050557	congenital muscular dystrophy	ACE ACHE AGK AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB COL6A1 CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 1291 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 55750 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:4773	congenital mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:0060779	congenital malabsorptive diarrhea 4 Aliases: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis	DGAT1	8694	Homo sapiens (human)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	25608	Rattus norvegicus (Norway rat)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)

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