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 **2726 - 2750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110487	autosomal recessive nonsyndromic deafness 29 Aliases: DFNB29 autosomal recessive deafness 29	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:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	292999	Rattus norvegicus (Norway rat)
DOID:10095	intracranial abscess	ICAM1 SMUG1	23583 3383	Homo sapiens (human)
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	CEACAM5 NEU1 PIGN	1048 23556 4758	Homo sapiens (human)
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	MLYCD	23417	Homo sapiens (human)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)
DOID:2602	chondroma Aliases: central Chondroma	AMACR EXT1 IDH1 IDH2 PIGA PIK3CA PIK3CB PIK3CD PIK3CG SDHB SMUG1	2131 23583 23600 3417 3418 5277 5290 5291 5293 5294 6390	Homo sapiens (human)
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 447881 563897 566487	Danio rerio (zebrafish)
DOID:5463	cochlear disease	Tnf	21926	Mus musculus (house mouse)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Adipoq Gclc Igf2 Myc Pgf Phkg2 Rbp4 Tlr4 Tnf	11450 14629 16002 17869 18654 19662 21898 21926 68961	Mus musculus (house mouse)
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	Pklr	24651	Rattus norvegicus (Norway rat)
DOID:8504	impetigo	GALNS	2588	Homo sapiens (human)
DOID:2065	syringoma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	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:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ENO1 ENO2 ERR1 ERR2 ERR3	853169 854575 855373 855848 856579	Saccharomyces cerevisiae S288C
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	ACE CHI3L1 GBA1 GGT1 GLDC OGA OGG1 PAFAH1B1 PIK3C2G PLCG2 PRNP PTEN SMUG1 TPI1	10724 1116 1636 23583 2629 2678 2731 4968 5048 5288 5336 5621 5728 7167	Homo sapiens (human)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:6869	parasagittal meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	Abo Adrb1 Akt1 Akt2 Atp1a2 Bad Chi3l1 Chst12 Comt Eno1 Eno1b Eno2 Gck Gsk3b Hk2 Htr2a Il6st Inppl1 Ins2 Kcnj11 Kcnq1 Kl Ldha Lep Lepr Nisch Npy1r Ogg1 Pgf Pik3r1 Pkm Ppara Rbp4 Tnf Ucp2 Ugcg	103988 11554 11651 11652 12015 12654 12846 13806 13807 15277 15558 16195 16332 16334 16514 16535 16591 16828 16846 16847 18166 18294 18654 18708 18746 19013 19662 21926 22228 22234 433182 56637 59031 64652 80908 98660	Mus musculus (house mouse)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn	100124956	Xenopus tropicalis (tropical clawed frog)
DOID:13501	Moebius syndrome Aliases: Mobius syndrome Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)

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