GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7826 - 7850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10113	trypanosomiasis	ABO ACAT1 ACE ACHE ALOX5 ALPI ALPP APRT CALR COLEC11 CS CYP21A2 CYP2B6 CYP51A1 DDOST DHCR24 FCN2 FDPS G6PD GAD1 GAPDH GCK GLUL LGALS3 LGALS9 LSS MASP2 MBL2 MICA MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PTGS2 RPIA SDC4 SIRT2 SMPD1 SMUG1 SOAT1 STS STT3A STT3B TPI1	100507436 10747 142 1431 1555 1589 1595 1636 1650 1718 201595 2220 2224 22933 22934 23236 23583 240 248 250 2539 2571 2597 2645 2752 28 353 3703 38 3958 3965 4047 412 4153 43 4507 4860 4907 5290 5291 5293 5294 5332 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)
DOID:6868	mediastinal malignant lymphoma Aliases: Lymphoma of mediastinum	CMAS SMUG1	23583 55907	Homo sapiens (human)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	Comt	24267	Rattus norvegicus (Norway rat)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 ETNK1 ETNK2	55224 55500 55799	Homo sapiens (human)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca	3772574	Drosophila melanogaster (fruit fly)
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	207958	Mus musculus (house mouse)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100006345 101669768 557187 563878 569769 571426 571876	Danio rerio (zebrafish)
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	Myc	24577	Rattus norvegicus (Norway rat)
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	Chi3l1 Tlr4	12654 21898	Mus musculus (house mouse)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	gspd-1 pgk-1	171965 178046	Caenorhabditis elegans
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	ACSM3 ADH5 AGPAT2 CD44 CD55 CYP17A1 CYP19A1 CYP3A4 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 INPPL1 L1CAM LPL MMUT NT5E PIK3CA PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 SRD5A3 STS TYMP XYLT1	10555 10908 128 148738 1576 1586 1588 1604 1890 2619 2710 2817 3293 3636 3897 4023 412 4594 4907 5290 5373 55512 6296 64131 6646 79644 8482 9394 960	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	CG1544	43689	Drosophila melanogaster (fruit fly)
DOID:4514	thyroid angiosarcoma Aliases: hemangiosarcoma of the Thyroid	PTGS2	5743	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Hex-t1	117364	Drosophila melanogaster (fruit fly)
DOID:1811	reflex sympathetic dystrophy	ACE CYP19A1 CYP24A1 ENO1 GAPDH GPC6 GPD2 GPX1 IDH2 KL MGLL OXCT1 PGLS PKM PNP TPI1	10082 11343 1588 1591 1636 2023 25796 2597 2820 2876 3418 4860 5019 5315 7167 9365	Homo sapiens (human)
DOID:9602	necrotizing fasciitis	GALNS RECK	2588 8434	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:3247	rhabdomyosarcoma	ALPI ALPP CEACAM5 CEACAM7 CYP2B6 DAG1 ENO2 G6PD GLB1 GOLPH3 GPC3 GPC5 HPSE ICAM1 IL1R1 LARGE1 LGALS3 NANS NEU2 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 RGN SIRT2 SMUG1 ST8SIA2 ST8SIA4 SYNJ1	1048 10855 1087 142 1555 1605 2026 2262 22933 23583 248 250 2539 2719 2720 283871 3383 3554 3958 4759 5290 5291 5293 5294 54187 57104 5728 5743 64083 7903 8128 8867 9104 9215	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)

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