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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 **701 - 725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
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:1935	Bardet-Biedl syndrome	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 56623	Homo sapiens (human)
DOID:9857	interstitial keratitis	INPP5D	3635	Homo sapiens (human)
DOID:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	Homo sapiens (human)
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	INPP4B MASP1 OPCML SARM1	23098 4978 5648 8821	Homo sapiens (human)
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	IL1RL1	9173	Homo sapiens (human)
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	IL1RL1	9173	Homo sapiens (human)
DOID:12580	Cri-Du-Chat syndrome Aliases: 5p deletion syndrome 5p partial monosomy syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome	IL1RL1 SMUG1	23583 9173	Homo sapiens (human)
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 9173	Homo sapiens (human)
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)
DOID:727	premenstrual tension	IL1RAP MCAT NANS PNPLA3	27349 3556 54187 80339	Homo sapiens (human)
DOID:6227	articular cartilage disease	IL1R1	3554	Homo sapiens (human)
DOID:9699	ophthalmia neonatorum Aliases: Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis	IL18R1	8809	Homo sapiens (human)

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