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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 **1 - 25** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	99011	Mus musculus (house mouse)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	99011	Mus musculus (house mouse)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Pomt1	99011	Mus musculus (house mouse)
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	98660	Mus musculus (house mouse)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	98660	Mus musculus (house mouse)
DOID:10024	migraine with aura Aliases: classic migraine	Atp1a2	98660	Mus musculus (house mouse)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	Atp1a2	98660	Mus musculus (house mouse)
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	97884	Mus musculus (house mouse)
DOID:4767	classic pulmonary blastoma	CD74	972	Homo sapiens (human)
DOID:0111008	X-linked cone-rod dystrophy 1 Aliases: COD1 CORDX1 X-linked cone dystrophy 1	CD48	962	Homo sapiens (human)
DOID:3606	ovarian mucinous adenocarcinoma Aliases: mucinous carcinoma of Ovary	CD44	960	Homo sapiens (human)
DOID:3316	perivascular tumor Aliases: malignant perivascular cancer	CD44	960	Homo sapiens (human)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6PD	9563	Homo sapiens (human)
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)
DOID:1757	facial hemiatrophy Aliases: PARRY-ROMBERG SYNDROME	CD38	952	Homo sapiens (human)
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	CD38	952	Homo sapiens (human)
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)
DOID:5492	biphasic synovial sarcoma Aliases: Biphasic sarcoma of Synovium Synovial sarcoma, biphasic	CD38	952	Homo sapiens (human)
DOID:2877	larynx sarcoma Aliases: sarcoma of larynx	CD38	952	Homo sapiens (human)
DOID:5495	monophasic synovial sarcoma Aliases: Monophasic sarcoma of Synovium	CD38	952	Homo sapiens (human)

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