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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 **10001 - 10025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	GRID2	2895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	AGER FAS IL6 LTA MBL2 MMP9 TGFB1 TNF TREM1	177 355 3569 4049 4153 4318 54210 7040 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	UQCC3	790955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ANK2 ARHGAP36 KCNE1 KCNE2 KCNH2 KCNH6 KCNH7 KCNQ1 KCNQ2 KCNQ3 KCNQ5 SCN5A	158763 287 3753 3757 3784 3785 3786 56479 6331 81033 90134 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NUP62	23636	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:2723	dermatitis Aliases: eczema skin inflammation	ADRB2 HCN2 HLA-B IKBKB IL13 TNF	154 3106 3551 3596 610 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090128	Carvajal syndrome Aliases: DCWHK dilated cardiomyopathy with woolly hair and keratoderma palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	TIMP3	7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080820	occupational asthma	HLA-B HLA-DOA HLA-DPB1 HLA-E	3106 3111 3115 3133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110120	Axenfeld-Rieger syndrome type 1 Aliases: RIEG1 Rieger syndrome type 1	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080588	agammaglobulinemia 5	LRRC8A	56262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111474	combined oxidative phosphorylation deficiency 1 Aliases: COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GFM1	85476	Homo sapiens (human)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	FGFR3 KDM6A SF3B1	2261 23451 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080445	developmental and epileptic encephalopathy 13 Aliases: DEE13 early infantile epileptic encephalopathy 13	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources

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