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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 **6451 - 6475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	alg6.L alg6.S	100049135 446684	Xenopus laevis (African clawed frog)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	ACE AKR1A1 CAT PLA2G7 SORD	10327 1636 6652 7941 847	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	Akt1	24185	Rattus norvegicus (Norway rat)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	CHIT1 COMT CYP2B6	1118 1312 1555	Homo sapiens (human)
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	CEACAM5 CEACAM7 DHCR24 GALNT6 GPX3 NEU1 PTEN PTGS2 TP53 TYMP	1048 1087 11226 1718 1890 2878 4758 5728 5743 7157	Homo sapiens (human)
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	Tnf	21926	Mus musculus (house mouse)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	dgat2	565316	Danio rerio (zebrafish)
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	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:0014667	disease of metabolism Aliases: metabolic disease	pfk-1.1 pfk-1.2	179335 180583	Caenorhabditis elegans
DOID:0060297	complement component 4a deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:9470	bacterial meningitis	cht-1 parp-1	180628 266823	Caenorhabditis elegans
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	kdn	31579	Drosophila melanogaster (fruit fly)
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:6126	anal canal carcinoma Aliases: anal canal and Perianal gland carcinoma	SMUG1	23583	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	100158586	Xenopus tropicalis (tropical clawed frog)
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	ARSA CD33 CNTN2 FCER2 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 PTEN SOAT1	2208 3418 410 5290 5291 5293 5294 56983 5728 6646 6900 945	Homo sapiens (human)
DOID:1003	pelvic inflammatory disease Aliases: PID	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:2964	periarthritis	ACAN ACLY ADH1B B3GALT6 CD14 CD44 DCN ENPP1 EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PTEN	10855 125 126792 1634 176 2131 2132 2137 2331 3339 3417 3418 47 5167 5728 929 9365 960	Homo sapiens (human)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ext1 ext2 extl3	100151709 448393 493398	Xenopus tropicalis (tropical clawed frog)
DOID:0050073	invasive aspergillosis	CYP2C19 MBL2 TLR4	1557 4153 7099	Homo sapiens (human)
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	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:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ATG26	850886	Saccharomyces cerevisiae S288C

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