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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 **2926 - 2950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Htr2a Igf2 Ndst1 Tnf	24483 24835 29595 29633	Rattus norvegicus (Norway rat)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:480	movement disease	ACHE ACO2 ALDH5A1 ALDH7A1 CYB5R3 CYP1A2 CYP21A2 DHCR7 FOLR2 G6PD GBA1 GCDH GLUL HEXA HPRT1 MAN2B1 NGLY1 NTNG1 OGDH PAFAH1B1 PDHA1 PGAP3 PIGN PLB1 PMM2 PPT1 PRNP PSAP PTEN SGSH SLC26A2 SLC2A3 SUCLA2	151056 1544 1589 1717 1727 1836 22854 2350 23556 2539 2629 2639 2752 3073 3251 4125 43 4967 50 501 5048 5160 5373 5538 55768 5621 5660 5728 6448 6515 7915 8803 93210	Homo sapiens (human)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1 Smpd1	18145 20597	Mus musculus (house mouse)
DOID:2367	neuroaxonal dystrophy	Naga	315165	Rattus norvegicus (Norway rat)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:11132	prostatic hypertrophy	Bad Myc	24577 64639	Rattus norvegicus (Norway rat)
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	Adrb1 Chi3l1 Htr2a Il1rl1 Lep Lepr Ppargc1a Tlr4 Tnf	24536 24835 24925 25556 25608 29260 29595 83516 89824	Rattus norvegicus (Norway rat)
DOID:1019	osteomyelitis	ACOT7 ACYP2 CHI3L1 DHCR24 EBP IL18R1 LCT LPIN2 MBD4 NANS PGM3 PTGS2 SMUG1 SPTLC2	10682 1116 11332 1718 23583 3938 5238 54187 5743 8809 8930 9517 9663 98	Homo sapiens (human)
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:633	myositis Aliases: Inflammatory disorder of muscle	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:3525	middle cerebral artery infarction	Bad Gapdh Gsk3b Has2 Hmgb1 Nampt Ogg1 Parp1 Tnf	24383 24835 25459 25591 25694 297508 64639 81528 84027	Rattus norvegicus (Norway rat)
DOID:0110527	autosomal recessive nonsyndromic deafness 8 Aliases: DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8	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:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	63840	Rattus norvegicus (Norway rat)
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	cht-1	180628	Caenorhabditis elegans
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Dysf Fkrp Myof	226101 243853 26903	Mus musculus (house mouse)
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	CALR CEACAM5 CEACAM7 CYP19A1	1048 1087 1588 811	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	ext1 ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 448393 496577	Xenopus tropicalis (tropical clawed frog)
DOID:0050571	congenital disorder of glycosylation type II	ATP6AP2 Edem2 Pgant2 nac	33556 34714 40981 41104	Drosophila melanogaster (fruit fly)
DOID:13252	mesenteric vascular occlusion	ICAM1	3383	Homo sapiens (human)
DOID:8719	in situ carcinoma	Akt1	24185	Rattus norvegicus (Norway rat)

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