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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5976 - 6000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	Chia1 Tnf	21926 81600	Mus musculus (house mouse)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	12894	Mus musculus (house mouse)
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	Akr1b1	11677	Mus musculus (house mouse)
DOID:0070385	developmental and epileptic encephalopathy 99 Aliases: DEE99 early infantile epileptic encephalopathy 99	Atp1a3	232975	Mus musculus (house mouse)
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B Aliases: LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3	Dysf	26903	Mus musculus (house mouse)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:559	acute pyelonephritis	Rbp4	19662	Mus musculus (house mouse)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abo Gpi1 Hk1 Myc	14751 15275 17869 80908	Mus musculus (house mouse)
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	Braf	109880	Mus musculus (house mouse)
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	Igf2 Tnf	16002 21926	Mus musculus (house mouse)
DOID:0050847	sleep apnea	Adipoq Lepr	11450 16847	Mus musculus (house mouse)
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	Cry1	12952	Mus musculus (house mouse)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi1	21991	Mus musculus (house mouse)
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Nampt Pgf Tlr4 Ucp2	18654 21898 22228 59027	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	Myc	17869	Mus musculus (house mouse)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	16514	Mus musculus (house mouse)
DOID:3042	allergic contact dermatitis	Tlr4	21898	Mus musculus (house mouse)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Akr1b1 Gale Galm Galt	11677 14430 319625 74246	Mus musculus (house mouse)
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	Htr2a	15558	Mus musculus (house mouse)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	Trp53	22059	Mus musculus (house mouse)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	Pigp	56176	Mus musculus (house mouse)

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