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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 **6276 - 6300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:782	renal infectious disease	ACE CYP2C9 DCN GLA HSPG2 MMUT PKM PLA2R1 SDC1 SDC2 SFTPD SLC3A1 TM7SF2 UMOD	1559 1634 1636 22925 2717 3339 4594 5315 6382 6383 6441 6519 7108 7369	Homo sapiens (human)
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	Akt1	24185	Rattus norvegicus (Norway rat)
DOID:0110465	autosomal recessive nonsyndromic deafness 104 Aliases: DFNB104 autosomal recessive deafness 104	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:116	pericardium cancer Aliases: Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium	CYP1A2	1544	Homo sapiens (human)
DOID:7566	eccrine porocarcinoma Aliases: Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma	CEACAM5	1048	Homo sapiens (human)
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1 TNF	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 7124 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	Gba1	14466	Mus musculus (house mouse)
DOID:1563	dermatomycosis	CLEC6A CLEC7A	64581 93978	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100006345	Danio rerio (zebrafish)
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	CEACAM5 FASN IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 3418 4360 51763 5290 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	gspd-1	178046	Caenorhabditis elegans
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	ANXA5 BST2 CD209 CLEC10A CLEC4G DAG1 DPAGT1 FOLR2 GNPTAB GP2 LGALS1 SFTPD SIGLEC1 TPI1	10462 1605 1798 2350 2813 308 30835 339390 3956 6441 6614 684 7167 79158	Homo sapiens (human)
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	FH LGALS3 PTEN SDHB SMUG1	2271 23583 3958 5728 6390	Homo sapiens (human)
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	ACAN COMT HPGDS MMP25	1312 176 27306 64386	Homo sapiens (human)
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)
DOID:0050697	chorioamnionitis	Tnf	21926	Mus musculus (house mouse)
DOID:2495	senile angioma Aliases: Senile hemangioma Senile naevus of skin	PTEN	5728	Homo sapiens (human)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Dgat2	67800	Mus musculus (house mouse)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	Pcna	18538	Mus musculus (house mouse)

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