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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 **10576 - 10600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	eef-1A.1 eef-1A.2	175975 181044	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	ten-1	175953	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12678	hypercalcemia	pdfr-1	175942	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3454	brain infarction	W01F3.2 cpr-3 cpr-4 cpr-6 parg-1 parg-2 pcp-1 pdfr-1 twk-46 unc-36 zmp-3 zmp-4	175942 176086 176155 177683 178748 179053 179991 180033 180252 180351 180931 186765	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	algn-1	175920	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM1 DNM2	1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM1 DNM2 MTMR14	1759 1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt-3	175886	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt-3	175886	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112201	osteogenesis imperfecta type 21 Aliases: OI21 osteogenesis imperfecta type XXI	erd-2.2	175833	Caenorhabditis elegans	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	aldo-1 aldo-2	175827 176788	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	aldo-1 aldo-2 parg-1 parg-2 parp-1	175827 176788 177683 186765 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	DMP1	1758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	daf-4	175781	Caenorhabditis elegans	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	daf-4 rnst-2	175781 190096	Caenorhabditis elegans	Alliance of Genome Resources

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