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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 **2926 - 2950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st-B	32918	Drosophila melanogaster (fruit fly)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2	545291	Mus musculus (house mouse)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	Hmgb1 Tlr4 Tnf	24835 25459 29260	Rattus norvegicus (Norway rat)
DOID:1936	atherosclerosis	Hmgb1 Ptges3 Rbp4	25459 25703 362809	Rattus norvegicus (Norway rat)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Hmgb1 Pomk Ppara	25459 25747 306549	Rattus norvegicus (Norway rat)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	Hmgb1 Pik3ca	170911 25459	Rattus norvegicus (Norway rat)
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	Hmgb1 Pdx1 Rbp4 Tnf	24835 25459 25703 29535	Rattus norvegicus (Norway rat)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Hmgb1 Pcna Ucp2	25459 25737 54315	Rattus norvegicus (Norway rat)
DOID:3454	brain infarction	Hmgb1 Igf2 Parg Tnf	24483 24835 25459 83507	Rattus norvegicus (Norway rat)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	Hmgb1 Pomk Ppara	15289 19013 74653	Mus musculus (house mouse)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	Hmgb1 Pik3ca	15289 18706	Mus musculus (house mouse)
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	Hmgb1 Pdx1 Rbp4 Tnf	15289 18609 19662 21926	Mus musculus (house mouse)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Hmgb1 Pcna Ucp2	15289 18538 22228	Mus musculus (house mouse)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	Hk2 Ins1 Ins2	15277 16333 16334	Mus musculus (house mouse)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	25058	Rattus norvegicus (Norway rat)
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Hk1 Pgf Tnf	24835 25058 94203	Rattus norvegicus (Norway rat)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hk1 Kl Pomgnt1	25058 362567 83504	Rattus norvegicus (Norway rat)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Hk1 Pgf Tnf	15275 18654 21926	Mus musculus (house mouse)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hk1 Hkdc1 Kl Pomgnt1	15275 16591 216019 68273	Mus musculus (house mouse)
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)

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