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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 **5451 - 5475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	tgfb1.L	397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	24362	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11204	allergic conjunctivitis	Ccl11 Ccl7 Icam1 Ifng Il10 Il13 Il1rn Il4ra Muc1 Muc4 Tlr4 Tlr9 Tnc	140474 15894 15978 16153 16163 16181 16190 17829 20292 20306 21898 21923 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	Dnm1 Dnm2 Dnm3	103967 13429 13430	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	Casz1 Kcnab2	16498 69743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	mfsd2a	780091	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	Pigb	315807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1	100488616	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050759	myotonic dystrophy type 2	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	Est-6 Est-P Oatp74D	39392 39393 39954	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:824	periodontitis Aliases: chronic pericementitis	ADRB1 AGER APP CCL2 CD14 CD274 CD40LG CLDN1 CYP1A1 ELANE FMOD HMGB1 IFNGR1 IL10 IL1A IL1RN IL6 LBP MET MME MMP13 MMP1 MMP2 MMP3 NAMPT NTRK1 PDCD1 POSTN PPARA TNF TREM1 VCAM1	10135 10631 153 1543 177 1991 2331 29126 3146 3459 351 3552 3557 3569 3586 3929 4233 4311 4312 4313 4314 4322 4914 5133 54210 5465 6347 7124 7412 9076 929 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	stim-1	175201	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111982	immunodeficiency 56 Aliases: IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency	IL21R	50615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	Psn	40260	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8567	Hodgkin's lymphoma Aliases: HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma	sdn-1	181259	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	ALX4 ARX IQSEC2	170302 23096 60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	Ddb1	13194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	Bcat2 Dld	12036 13382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050562	West syndrome	Cfl1 Mc2r Stxbp1	12631 17200 20910	Mus musculus (house mouse)	Alliance of Genome Resources

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