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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 **4951 - 4975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	APOA5 APOC2	116519 344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ATG26 CTS2 SMF3 ZWF1	850721 850886 851977 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	29119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	Kdm6a	22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3326	purpura Aliases: Purpuric disorder	Il13	116553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	Itga2b Itgb3	16399 16416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	Adipoq Cps1 Il1rn Timp1	11450 16181 21857 227231	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2M ACE ADM ADRB2 CCKBR CCL2 CD274 ELANE ENO2 F2 HLA-DRA HLA-DRB1 HSPA1B IFNG IL10 IL19 IL1RN MBL2 MC2R MIF NOS2 NPPC PDCD1 PROC PTX3 REN SELL SERPINC1 SERPINE1 SERPINF1 SERPING1 SFTPB TBXA2R TFPI THPO TNF TREM1	133 154 1636 1991 2 2026 2147 29126 29949 3122 3123 3304 3458 3557 3586 4153 4158 4282 462 4843 4880 5054 5133 5176 54210 5624 5806 5972 6347 6402 6439 6915 7035 7066 710 7124 887	Homo sapiens (human)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	acn-1 aph-2 mrp-1 mrp-2 mrp-7 pgp-1 pgp-3 scav-2 scav-3	172905 176673 176787 178215 180289 180408 180409 180780 181326	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	Opn1mw	14539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	Flt4	14257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	PROS1 TFPI	5627 7035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110412	retinitis pigmentosa 23 Aliases: RP23	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050864	non-arteritic anterior ischemic optic neuropathy Aliases: non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy	ACE F5 GP1BA ITGB3	1636 2153 2811 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	Nos1 Vipr1	24598 24875	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	erlin1	541490	Danio rerio (zebrafish)	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	Wnt2	35975	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14228	oligospermia	fs(1)h	31722	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	Tspear	252974	Mus musculus (house mouse)	Alliance of Genome Resources

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