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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 **12276 - 12300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080675	Stickler syndrome 2	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3	1280 1297 1298 1299 1301 1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	854904	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	855687	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	855676	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4 ERS1	850438 856220	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	COG3	856901	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112311	male infertility due to acephalic spermatozoa	CNTROB	116840	Homo sapiens (human)	Alliance of Genome Resources
DOID:11257	social phobia	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources

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