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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 **2776 - 2800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	TIMP1 TIMP3	7076 7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	Angpt1 Angpt2 Pik3r1 Tgfbr3 Tp53	24842 25513 29610 89805 89807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	EGF OSGEP	1950 55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	AARS1 AARS2 ANGPTL2 CCR2 CD36 CD40 CD40LG CX3CL1 FAS HGF IFNG IL4 MBL2 MMP9 PMS1 ROBO1 SLIT2 STAT4 THBD TLR2 TLR4 TLR9	16 23452 3082 3458 355 3565 4153 4318 5378 54106 57505 6091 6376 6775 7056 7097 7099 729230 9353 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Cacna1c	24239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	aldo-1	176788	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	MERTK	10461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	Mdh2	81829	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	LAS17 PEP4	854353 855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1924	hypogonadism	Kiss1r Lep	25608 78976	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 BARD1 BAX BDNF C3 CARD9 CFB CFH CLU CS DMD EYS FCGR1A HDAC4 HGF INHBA KCNH8 LCN2 MERTK NOS3 OTX1 OTX2 PARK7 PDE6B PDHA1 PDHA2 PKD2 PLCB4 PROM1 PROM2 PRPH2 PTPRC RAB6A SERPINF1 SH3RF1 TFPI2 VDAC1 VDAC2 VDAC3	10461 11315 1191 131096 1431 150696 1756 2209 24 3075 3082 346007 3624 3934 4846 5013 5015 5158 5160 5161 5176 5311 5332 57630 5788 580 581 5870 5961 627 629 64170 718 7416 7417 7419 7980 8842 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:4989	pancreatitis	CtsL1 Spn28Dc TkR99D Tl smo	33196 34091 36546 43222 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	FTO LMNA MMP2 SMAD6	4000 4091 4313 79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	5-HT1A 5-HT1B DAT Dop2R Fas2 nAChRalpha1 nAChRalpha2 nAChRalpha6 nAChRbeta1 nAChRbeta2	31364 33007 34304 36849 37191 37196 38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	Ccr5	117029	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NELL1 NOG SKI TCF12 TWIST1	2261 2263 2316 27241 4745 60529 6497 6938 7291 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	Ghrhr	14602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	DPP4	1803	Homo sapiens (human)	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	AVP	551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	ooc-5	174433	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	Sil1	291673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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