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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 **2351 - 2375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	Fas2	31364	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 40079 41334 41574 42538 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	daf-1 daf-4 rnst-2 sma-6	174044 175781 176829 190096	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	Gucy2e	14919	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111323	idiopathic generalized epilepsy 9 Aliases: EIG9	Cacnb4	12298	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	Adamtsl2	77794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	ent-2	181648	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Bmp4 Enpp1	12159 18605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	Ccr5 Flt1 Il18bp Kdr Mmp9 Tlr4 Vegfa	12774 14254 16068 16542 17395 21898 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070378	developmental and epileptic encephalopathy 109 Aliases: DEE109	FZR1	51343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	IL6R	3570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	Crp Tnf	24835 25419	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110551	autosomal dominant nonsyndromic deafness 21 Aliases: DFNA21 autosomal dominant deafness 21	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	Hspa1a Lifr	24472 81680	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:3500	gallbladder adenocarcinoma Aliases: adenocarcinoma of the gallbladder	Ace Ddr2	11421 18214	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080688	mosaic variegated aneuploidy syndrome	SLF2 SMC5	23137 55719	Homo sapiens (human)	Alliance of Genome Resources

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