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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 **2001 - 2025** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	MMUT	4594	Homo sapiens (human)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	ACADM CPT1A CPT2 HSD17B4 PFKM PGAM2	1374 1376 3295 34 5213 5224	Homo sapiens (human)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	12894	Mus musculus (house mouse)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	25757	Rattus norvegicus (Norway rat)
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 5048 50814 51227 523 55624 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	H6pd	100198	Mus musculus (house mouse)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6PD	9563	Homo sapiens (human)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6pd	100198	Mus musculus (house mouse)
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	KAR2	853418	Saccharomyces cerevisiae S288C
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	ATRN	8455	Homo sapiens (human)
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	18627	Mus musculus (house mouse)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	63840	Rattus norvegicus (Norway rat)

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