GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **2651 - 2675** of **4649** in total

« First

‹ Prev

…

103

104

105

106

107

108

109

110

111

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111819	syndactyly type 5 Aliases: SDTY5 syndactyly with associated metacarpal and metatarsal fusion	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111835	congenital nongoitrous hypothyroidism 9 Aliases: CHNG9	IRS4	8471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	TRHR	7201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111837	congenital nongoitrous hypothyroidism 8 Aliases: CHNG8	TBL1X	6907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111840	Van Esch-O'Driscoll syndrome Aliases: MRXSVEOD VEODS X-linked intellectual disability, Van Esch type X-linked syndromic mental retardation Van Esch-O'Driscoll type	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	SLC9A7	84679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111847	osteogenesis imperfecta type 19 Aliases: OI19 osteogenesis imperfecta type XIX	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	MESD	23184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111853	primary ciliary dyskinesia 40 Aliases: CILD40 primary ciliary dyskinesia 40 with or without situs inversus	DNAH9	1770	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111854	primary ciliary dyskinesia 39 Aliases: CILD39 primary ciliary dyskinesia 39 with or without situs inversus	LRRC56	115399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111862	congenital bilateral absence of vas deferens Aliases: CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	ADGRG2	10149	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	AARS1 MARS1	16 4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	TARS1 TARS2 TARS3	123283 6897 80222	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements