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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 **5826 - 5850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt3b	323918	Danio rerio (zebrafish)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	324052	Danio rerio (zebrafish)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	324052	Danio rerio (zebrafish)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	324407	Danio rerio (zebrafish)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	32479	Drosophila melanogaster (fruit fly)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy	32497	Drosophila melanogaster (fruit fly)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	APRT HPRT1 PNP UMPS	3251 353 4860 7372	Homo sapiens (human)
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	APRT HPRT1 PNP	3251 353 4860	Homo sapiens (human)
DOID:3405	histiocytosis Aliases: Hand Schuller Christian disease chronic Histiocytosis X	HPRT1 PPT2 PTGS1	3251 5742 9374	Homo sapiens (human)
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	HPRT1 UMPS	3251 7372	Homo sapiens (human)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
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	3251	Homo sapiens (human)
DOID:0050161	lower respiratory tract disease	PGRP-LC PGRP-LE	32534 39063	Drosophila melanogaster (fruit fly)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	Gapdh1 Gapdh2 Tmtc3	32545 35728 37401	Drosophila melanogaster (fruit fly)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Fuca Gapdh1 Gapdh2 Tl	32545 35728 3772574 43222	Drosophila melanogaster (fruit fly)
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)
DOID:0060108	brain glioma Aliases: lower grade glioma	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	CG31139 O-fut1 rumi	326122 36564 42698	Drosophila melanogaster (fruit fly)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	CG31139 rumi	326122 42698	Drosophila melanogaster (fruit fly)
DOID:4079	heart valve disease Aliases: Valvular heart disease	Pgant5	326151	Drosophila melanogaster (fruit fly)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	Ald1 Aprt Axn Calr Lerp Plod Prat SMC3 Tl Zw dally dlp	32627 32974 39013 39265 39596 40935 41166 43183 43222 43223 43565 48224	Drosophila melanogaster (fruit fly)
DOID:1059	intellectual disability	Pgi SMC3 sfl teq	32627 35886 38736 39048	Drosophila melanogaster (fruit fly)

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