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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 **3201 - 3225** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)
DOID:0060239	Van der Woude syndrome	CNTN2 CPO CYP2E1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRKAA2 PTGS2 UMOD	130749 1571 5290 5291 5293 5294 5315 5563 5743 6900 7369	Homo sapiens (human)
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
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)
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	Homo sapiens (human)
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)
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	COG4	25839	Homo sapiens (human)
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)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)
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)
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)
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)
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)
DOID:9888	alternating esotropia	COG8	84342	Homo sapiens (human)
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)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	COL9A2 G6PD GPX1 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 2876 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	COL9A2 G6PD IDH1 IDH2 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 3417 3418 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	COL9A2 G6PD PC PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5091 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)

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