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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 **8226 - 8250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	Evc2 Evc	59056 68525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Pepck1 Sod3 tor	35717 36232 37131	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	CCN1	3491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080581	hyperekplexia 4	Atad1	67979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	Brinp3 Cd40lg Il15 Il21 Il24	170819 25670 286901 365769 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Balat CarT Mdr49 Mdr65 Orct2 Orct aralar1	35334 36417 36428 38726 42890 42891 43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	PRKAR1A PTEN	5573 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	SERPINB7 SERPINE1 SERPINE2 SERPINI1 SERPINI2	5054 5270 5274 5276 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	Aqp4 Cept1 Gfap Il10 Map2k3 Opn4 Prph2 Thy1	11829 14580 16153 19133 21838 26397 30044 99712	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	rho.L rho.S	108715858 380209	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	C29E4.10	183002	Caenorhabditis elegans	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	PGK1 ZWF1	850370 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ina-1	176296	Caenorhabditis elegans	Alliance of Genome Resources
DOID:530	eyelid disease	Foxc2	14234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	Tek	21687	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	XIAP	331	Homo sapiens (human)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Ace Atpalpha GluRIA Nep3 Zw mnb	32771 32974 33005 38742 41625 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	PMT4	853608	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:1679	cystitis	Pdfr Pxn Sod3 TkR99D Tl	31234 36232 38326 43222 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110263	cataract 19 multiple types Aliases: CTRCT19	Lim2	114903	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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