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 **8801 - 8825** of **15957** in total

« First

‹ Prev

…

349

350

351

352

353

354

355

356

357

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	Wac	225131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	Svil	225115	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111566	familial isolated trichomegaly Aliases: TCMGLY long eyelashes	FGF5	2250	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111499	combined oxidative phosphorylation deficiency 37 Aliases: COXPD37	Micos13	224904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	FGF10 FGF16 FGF3 FGF5 FGF6 FGF7	2248 2250 2251 2252 2255 8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070168	spermatogenic failure 3 Aliases: SPGF3	Slc26a8	224661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:484	vascular hemostatic disease	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	FGA FGB FGG	2243 2244 2266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110371	retinitis pigmentosa 56 Aliases: RP56	Impg2	224224	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	Wnt7b	22422	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	Wnt7a	22421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	Wnt7a	22421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	Wnt4	22417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	Wnt3	22415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Acsl5 Plvap Wnt2b	22414 433256 84094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3996	urinary system cancer	Wnt2	22413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	Wnt10b	22410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	Wnt10a	22409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	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