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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 **5126 - 5150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 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: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:11166	Human papillomavirus infectious disease Aliases: HPV	IL1RL1	9173	Homo sapiens (human)
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)
DOID:9266	cystinuria	IMA1 IMA2 IMA3 IMA4 IMA5 MAL12 MAL32	852602 853204 853209 853214 853235 854008 854635	Saccharomyces cerevisiae S288C
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	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:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	Homo sapiens (human)
DOID:9857	interstitial keratitis	INPP5D	3635	Homo sapiens (human)
DOID:0050777	Joubert syndrome Aliases: JBTS	INPP5E	39404	Drosophila melanogaster (fruit fly)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	39404	Drosophila melanogaster (fruit fly)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 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:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110137	Bardet-Biedl syndrome 15 Aliases: BBS15	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110133	Bardet-Biedl syndrome 11 Aliases: BBS11	INPP5E PIGX	54965 56623	Homo sapiens (human)

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