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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 **2301 - 2325** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111243	acromicric dysplasia Aliases: ACMICD acromicric skeletal dysplasia	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	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:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	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: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:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	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: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	148789	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	TEAD1	7003	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	4534 55613 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM1 DNM2 MTMR14	1759 1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	BIN1	274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	GFER	2671	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5 Aliases: DSMA5 autosomal recessive distal spinal muscular atrophy type 5 distal spinal muscular atrophy type 5 young adult-onset dHMN young adult-onset distal hereditary motor neuropathy	DNAJB2	3300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	FBXO38	81545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources

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