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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 **4051 - 4075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	Homo sapiens (human)
DOID:12522	bagassosis Aliases: sugar cane worker pneumonitis	ACAN HS3ST6 OVGP1 PTGS2	176 5016 5743 64711	Homo sapiens (human)
DOID:62	aortic valve disease	ACAN ENPP1 KL NT5E PLA2G7 PLPP3 STS	176 412 4907 5167 7941 8613 9365	Homo sapiens (human)
DOID:2557	chondromalacia	ACAN IL1R1	176 3554	Homo sapiens (human)
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)
DOID:10328	siderosis Aliases: pulmonary siderosis	ACAN GAD1 HS3ST6 PTGS2	176 2571 5743 64711	Homo sapiens (human)
DOID:10316	pneumoconiosis	ACAN CAT GAD1 HS3ST6 PTGS2	176 2571 5743 64711 847	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:813	septic arthritis Aliases: infectious arthritis	ACAN ACLY ACSS2 FUT4 PLA2G15 SMUG1	176 23583 23659 2526 47 55902	Homo sapiens (human)
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)
DOID:2649	chondroblastoma Aliases: Chondroblastoma of bone	ACAN EXT1 IDH2 PTGS2	176 2131 3418 5743	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	algn-1	175920	Caenorhabditis elegans
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt-3	175886	Caenorhabditis elegans
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt-3	175886	Caenorhabditis elegans
DOID:438	autoimmune disease of the nervous system	aldo-1 aldo-2	175827 176788	Caenorhabditis elegans
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	aldo-1 aldo-2 parg-1 parg-2 parp-1	175827 176788 177683 186765 266823	Caenorhabditis elegans
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ugt-61 ugt-62	175591 185500	Caenorhabditis elegans
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	ugt-61 ugt-62	175591 185500	Caenorhabditis elegans
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	W03G11.3 cht-1 gspd-1 sqv-6 ugt-62	175591 178046 180628 189173 190099	Caenorhabditis elegans
DOID:7998	hyperthyroidism Aliases: overactive thyroid	cts-1 ugt-62	175591 176437	Caenorhabditis elegans
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	ZK1058.3	175506	Caenorhabditis elegans

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