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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 **14626 - 14650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	24946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ver-1 ver-4	175182 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CTSF	8722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	BAIAP2 DRD2 DRD4 HCN4 MET SLC6A3 SLITRK1	10021 10458 114798 1813 1815 4233 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	WDR75	84128	Homo sapiens (human)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	Tmem138	361728	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab	39866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6846	familial melanoma	MC1R MITF TERT	4157 4286 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	Adra1a Col1a1 Col3a1 Htr2a Ngf Nos3 Sod2	11549 12825 12842 15558 18049 18127 20656	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	Aqp2	11827	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	ESCO1 ESCO2 SEC23A SEC23B	10483 10484 114799 157570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080788	proximal symphalangism 2	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:3907	lung squamous cell carcinoma Aliases: Epidermoid cell carcinoma of the lung	ARPC5 ATM ATRX BSG CHRNA5 CHRNB4 CLPTM1L CSF1R CTNNB1 CYP1B1 DDR2 E2F1 ERCC6 FAP FGF9 FGFR4 FRZB FUBP1 GPX1 IDH1 IDH2 KMT2D LAMC2 POLE PREX2 PTCH1 PTK2 PTPN13 PTPRJ SFTPB SLC7A5 SOX30 SRC TERT	10092 11063 1138 1143 1436 1499 1545 1869 2074 2191 2254 2264 2487 2876 3417 3418 3918 472 4921 5426 546 5727 5747 5783 5795 6439 6714 682 7015 80243 8085 81037 8140 8880	Homo sapiens (human)	Alliance of Genome Resources
DOID:8564	lip cancer Aliases: malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of vermilion border of lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lip malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	Alk Arid1a Cd55 Cd55b Chaf1a Igf1r Ltk Nodal Ntrk1 Pecam1 Scnn1a	11682 13136 13137 16001 17005 18119 18211 18613 20276 27221 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112006	immunodeficiency 69 Aliases: IMD69	Ifng	25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	dpagt1	100487779	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	Idua	15932	Mus musculus (house mouse)	Alliance of Genome Resources

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