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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 **11451 - 11475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	Lmna Wrn	16905 22427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	Fto Lmna Mmp2	16905 17390 26383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	Lmna Lmnb1 Lmnb2 Sirt6 Vcpip1	16905 16906 16907 50721 70675	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Dot1l Lmna Lmnb1 Lmnb2	16905 16906 16907 208266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3603	mucinous cystadenocarcinoma Aliases: Pseudomucinous cystadenocarcinoma	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2277	gonadal disease	Lhcgr	16867	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	Lhcgr Trp53	16867 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	16848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	Ldlr	16835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	Ldb1	16825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13148	acute cystitis	Lcn2	16819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	Cd163 Lcn2 Ncstn Tnf	16819 21926 59287 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11111	hydronephrosis	Havcr1 Lcn2 Timd2	16819 171283 171284	Mus musculus (house mouse)	Alliance of Genome Resources

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