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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 **8101 - 8125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	Creb3l1	26427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	Chrna1	11435	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	Hsd11b1	25116	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	Igf2	24483	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Aliases: IDDBAS	PUS7	54517	Homo sapiens (human)	Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	a4galtl a4gnt abo.2 abo.3 abo.4 abo b3galt5.2 b3galt5.4 b3galt5l hs3st2 mgat4a ugt1a1	100124983 100489505 100492586 100493399 100493833 100494668 100494986 100497509 549416 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1073	renal hypertension	AGTR1 CYP2C8 CYP2J2 HSPA8 IL6 MMP2 MMP9 NOS2 NOS3 NPPA NPPB TNF	1558 1573 185 3312 3569 4313 4318 4843 4846 4878 4879 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6pd	24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	Slc6a2 Slc6a3	13162 20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:28	endocrine system disease	b4galt1 b4galt1l	550425 768123	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	pat-2 pat-3	175504 176240	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	GPX1 GPX2 KEX2 RNY1 SNF5 STE6	852546 852592 853671 853842 855483 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	cof-2 poml-1 poml-2	171999 183582 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	pomt1.S	108699937	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	324407	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	Pth1r	19228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112133	severe congenital neutropenia 3 Aliases: Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis	HAX1	10456	Homo sapiens (human)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	GLI3 SHH	2737 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	fgfr1.L fgfr1.S ins.L ins.S	378695 378696 397782 399444	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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