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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 **376 - 400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ABCC2 ADRB2 ALB ALOX5 ANXA2 APC APOA1 ASPH EPO EPOR EZH2 FASLG FSCN1 GNAS HDAC6 HGF IL1R2 IL4R IL6 INS KIT KRT7 MDM2 MET MFSD4A MGMT MKI67 MMP2 MMP9 MUC16 MUC1 MUC2 MUC3A MUC4 MUC5AC MUC5B MUC6 NCAM1 NOS2 NOTCH1 OGG1 OSBP2 OSBPL7 PANX2 PAWR PPIA PPP3CA PREX2 PRSS2 PRSS56 PTGS2 REG1A RNF43 RUNX3 SLC4A4 SLC7A5 SOCS3 SOX2 TGFB1 TGFBR2 THBS1 TNC TNFAIP3 TTR UGT1A9 WDHD1 WNT9A	10013 11169 114881 1244 148808 154 2056 2057 213 2146 23762 240 2778 302 3082 324 335 3371 356 3566 3569 3630 3815 3855 4193 4233 4255 4288 4313 4318 444 4582 4583 4584 4585 4586 4588 4684 4843 4851 4968 5074 54600 5478 54894 5530 5645 56666 5743 5967 646960 6624 6657 7040 7048 7057 7128 7276 727897 7483 7850 80243 8140 864 8671 9021 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CTLA4 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL4 LRP2 MBL2 TG TLR3	1493 3117 3119 3122 3123 3458 3565 4036 4153 7038 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	PAK3	5063	Homo sapiens (human)	Alliance of Genome Resources
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	Acbd5	74159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	Notch1 Notch3	25496 56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080380	nephrotic syndrome type 5 Aliases: nephrotic syndrome type 5, with or without ocular abnormalities	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	Stim1	361618	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	SLC9A7	84679	Homo sapiens (human)	Alliance of Genome Resources
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:13452	scleritis	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4677	keratitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	Mvl	42490	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3385	bacterial vaginosis	Mbl2	17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111279	psoriasis 7 Aliases: PSORS7	Il23r	209590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Y18H1A.11	353380	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	Pdgfrb	18596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	CHD4	1108	Homo sapiens (human)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	notch1a	30718	Danio rerio (zebrafish)	Alliance of Genome Resources

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