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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 **4576 - 4600** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	CTH HMGCL PCCA PCCB PHGDH	1491 26227 3155 5095 5096	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:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV	148738	Homo sapiens (human)	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	HFE HJV TFR2 TNF	148738 3077 7036 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Grn	14824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	Grm1	14816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	Grm1	14816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: Cutaneous Malignant Melanoma cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	Grm1	14816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	Grid2	14804	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	Gria1	14799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111424	branchiootorenal syndrome 2 Aliases: BOR2	SIX5	147912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070587	spermatogenic failure 88 Aliases: SPGF88	KASH5	147872	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 KASH5 MEIOB MSH4 XPO5	147872 254528 27241 4438 57510 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	CSTF2 ZMYM3	1478 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	Gpi1	14751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: HHS HTS HYPT1 hereditary generalized hypotrichosis simplex	APCDD1 SNRPE	147495 6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:4535	hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: HYPT6 Hypotrichosis, Localized, Autosomal Recessive 1 LAH1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111651	ectodermal dysplasia 15 Aliases: ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type	CST6	1474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1pr2	14739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	Mtss1 S1pr2	14739 211401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources

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