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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3926 - 3950** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110141	Bardet-Biedl syndrome 19 Aliases: BBS19	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110140	Bardet-Biedl syndrome 18 Aliases: BBS18	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110128	Bardet-Biedl syndrome 6 Aliases: BBS6	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110126	Bardet-Biedl syndrome 4 Aliases: BBS4	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110132	Bardet-Biedl syndrome 10 Aliases: BBS10	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:9565	dextrocardia Aliases: Heart predominantly in right hemithorax	INPP5E PKD1 TGDS	23483 5310 56623	Homo sapiens (human)
DOID:11975	coloboma of optic nerve Aliases: Coloboma of optic disc Morning glory syndrome	INPP5E PMM2	5373 56623	Homo sapiens (human)
DOID:8738	leukoplakia of penis Aliases: Kraurosis of penis Penile Leukoplakia	INPP5E	56623	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)
DOID:0050775	schneckenbecken dysplasia	INPPL1 SLC35D1	23169 3636	Homo sapiens (human)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)
DOID:698	dentin sensitivity Aliases: Sensitive dentin	ISYNA1 NDUFAB1	4706 51477	Homo sapiens (human)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	KCNQ1 NT5E	3784 4907	Homo sapiens (human)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1 SCD	3784 6319	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	KCNQ1	3784	Homo sapiens (human)
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)

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