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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 **7701 - 7725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	Il4	287287	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	EUG1 HMG1 HMG2 HXK1 PDI1 RHO1 VVS1	850314 850614 851171 852130 852543 854900 856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	faf	43749	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Adcy2 Cma1 Itpr1 Jag1 Lrp2 Notch1 Vegfa Wdr5	25262 25496 25627 29146 29216 362093 81636 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	mgat2.L mgat2.S	414590 444674	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	Fgfrl1	360903	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 ADGRB1 AGER AKT1 ANXA1 ANXA2 AR AREG CCL5 CD44 CLU CRKL DLG1 EZH2 FOXC1 HIF1A HSD17B1 IL13 INHA JUP KIT MAP2K4 MET MMP13 NCOA4 NEFL NTRK3 PCNA RAD50 RUNX3 SOCS3 TMBIM6 UBR5 VEGFC WIF1 XRCC1	10111 10863 11197 1191 1399 1739 177 207 2146 2296 301 302 3091 3292 3596 3623 367 3728 374 3815 4233 4322 4747 4916 5111 51366 5243 575 6352 6416 7009 7424 7515 8031 864 9021 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	Ndufs1	301458	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	Shal	40129	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	NPP1 NPP2	850391 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	Gucy2d Prph2	25534 79222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ERGIC1	57222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	Nep1 Nep4	31547 42449	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	Atpalpha Dop2R Tbh cac	31718 32158 33007 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	Cnpy3	72029	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	SLC34A1 SLC34A3	142680 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	Fas Ifng Tnf	246097 24835 25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	Fgfr2	25022	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	Reep6	70335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ADP1 CYC8 ENO1 ENO2 RHO1 RLI1 TRE1 TRE2 VPS70	850369 851665 852410 853169 853590 854430 855927 856294 856579	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:439	neuromuscular junction disease	IDH3A SYT1 SYT2	127833 3419 6857	Homo sapiens (human)	Alliance of Genome Resources

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