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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 **12326 - 12350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0050426	Stevens-Johnson syndrome	CLU HLA-A HLA-B HLA-DQB1 TNF	1191 3105 3106 3119 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	CLU HIF1A HLA-DQB1 SOD2	1191 3091 3119 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110828	Usher syndrome type 3 Aliases: USH3	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110373	retinitis pigmentosa 61 Aliases: RP61	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	CLN5	1203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	CLN3 PPT1	1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	CLMP INSR LEP LEPR	3643 3952 3953 79827	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070441	retinal macular dystrophy 4 Aliases: MCDR4	CLEC3B	7123	Homo sapiens (human)	Alliance of Genome Resources
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CLEC3B NFIX	4784 7123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112162	autosomal recessive nonsyndromic deafness 116 Aliases: DFNB116	CLDN9	9080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	CLCNKB SLC12A3	1188 6559	Homo sapiens (human)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	CLCNKB SLC12A1	1188 6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080353	X-linked recessive hypophosphatemic rickets	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:447	renal tubular transport disease Aliases: inborn renal tubular transport disorder	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	CLCN3 CLCN6 CLN3 PPT1	1182 1185 1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources

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