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 **8651 - 8675** of **15957** in total

« First

‹ Prev

…

343

344

345

346

347

348

349

350

351

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3429	inclusion body myositis	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110012	advanced sleep phase syndrome 2 Aliases: FASPS2 familial advanced sleep phase syndrome 2	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	HRR25 PBS2 STE6	853313 853671 855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	HRG	3273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111359	large congenital melanocytic nevus Aliases: Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN	HRAS NRAS	3265 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:591	phobic disorder	HRAS MED12	3265 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060581	Noonan syndrome 3 Aliases: NS3	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080690	RASopathy Aliases: RAS/mitogen-activated protein kinase syndrome	HRAS KRAS MAP2K1 MAP2K2 NRAS RREB1 SHOC2	3265 3845 4893 5604 5605 6239 8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 LRIG2	60495 9860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112346	hereditary spastic paraplegia 83 Aliases: SPG83 spastic paraplegia 83 autosomal recessive	HPDL	84842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110972	brachydactyly type E1 Aliases: BDE1	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110967	brachydactyly type A4 Aliases: BDA4 Temtamy type brachydactyly brachymesophalangy II and V	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110971	brachydactyly type D Aliases: BDD	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111819	syndactyly type 5 Aliases: SDTY5 syndactyly with associated metacarpal and metatarsal fusion	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050689	brachydactyly-syndactyly syndrome	HOXD13	3239	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