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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3651 - 3675** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112350	spermatogenic failure 61 Aliases: SPGF61	STAG3	10734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112352	spermatogenic failure 58 Aliases: SPGF58	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112353	spermatogenic failure 64 Aliases: SPGF64	FBXO43	286151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112354	spermatogenic failure 65 Aliases: SPGF65	DNHD1	144132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 Aliases: SSFSC2	SCUBE3	222663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Aliases: CAKUTHED	SON	6651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112363	spondylocostal dysostosis 5 Aliases: SCDO5	TBX6	6911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112367	Coffin-Siris syndrome 8 Aliases: CSS8	SMARCC2	6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112368	Coffin-Siris syndrome 5 Aliases: CSS5	SMARCE1	6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	BICRA	29998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	SMARCD1	6602	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112373	autosomal dominant auditory neuropathy 3 Aliases: AUNA3	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dg rt tw	31024 36773 39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	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:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	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: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: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:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Rh5 Rh6	34615 41889	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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