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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 **6051 - 6075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:2914	immune system disease	POU2F1 POU2F2 POU2F3	25833 5451 5452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	POR	5447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080925	cytochrome P450 oxidoreductase deficiency	POR	5447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X Aliases: LGMD2X muscular dystrophy, limb-girdle, type 2X	POPDC1	11149	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080962	anauxetic dysplasia 2	POP1	10940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
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	10585	Homo sapiens (human)	Alliance of Genome Resources
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	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	POMGNT1	55624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060794	hypomyelinating leukodystrophy 7 Aliases: HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080792	Treacher Collins syndrome 4	POLR1B	84172	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	POLH	5429	Homo sapiens (human)	Alliance of Genome Resources

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