GlyCosmos Portal

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

Displaying entries **7651 - 7675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:4492	avian influenza Aliases: avian flu bird flu	CD14 PTGS2	5743 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5364	pulmonary coin lesion Aliases: Coin lesion lung Coin lesion of lung	CEACAM5 PLA2G10 PLA2G2A PLB1 SMUG1	1048 151056 23583 5320 8399	Homo sapiens (human)	DisGeNET
DOID:9072	lethal midline granuloma Aliases: Midfacial Necrotising Lesion malignant granuloma of face	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:2538	Landau-Kleffner syndrome Aliases: acquired epileptic aphasia	ARSA	410	Homo sapiens (human)	DisGeNET
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)	DisGeNET
DOID:3021	acute kidney failure	ACE ALOX5 BAD CD44 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DGKE EPHX2 G6PD GPNMB GPX3 HEXB HPRT1 ICAM1 LGALS3 LPIN1 PKD2 PTGS2 TLR4 UGT1A1 UGT1A9	10457 1557 1559 1571 1594 1636 2053 23175 240 2539 2878 3074 3251 3383 3958 5311 54600 54658 572 5743 7099 8526 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	ACE CAT PTGS2	1636 5743 847	Homo sapiens (human)	DisGeNET
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070034	autosomal dominant intellectual developmental disorder 4 Aliases: MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4	ST3GAL4	6484	Homo sapiens (human)	DisGeNET
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060253	scapuloperoneal myopathy	ALOX5	240	Homo sapiens (human)	DisGeNET
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)	DisGeNET
DOID:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)	DisGeNET
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)	DisGeNET
DOID:0050908	myelodysplastic syndrome	ABAT ABO ACE ACHE ACSL5 ACSL6 ALOX5 ALPI ALPP AMACR ANXA5 ARSH BAAT CALR CD14 CD177 CD22 CD33 CD38 CD48 CD55 CFC1 CHST9 CLEC12A COLEC10 CPT1A CPT2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 EBP FCGR3B FUT1 FUT4 G6PC3 G6PD GGT1 GPI GPX3 GYS1 HAS2 HJV HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IL18R1 INPP5D LGALS9 NAAA NAGLU NANS NCAM1 OGG1 PAFAH1B1 PARP1 PDIA3 PGK1 PGP PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLA2R1 PLCB1 PLCB4 PLCE1 PLCG1 POGLUT1 PTEN SFTPA1 SLC17A5 SMPD3 SOAT1 SPHK1 STS TNF TNFRSF10C TP53	10584 10682 10855 1374 1376 142 148738 1545 1555 1571 1577 160364 1604 1636 18 2215 22925 23236 23305 23556 23600 240 248 250 2523 2526 2539 26503 2678 27163 27306 28 2821 283871 2878 2923 2997 3037 308 3383 3417 3418 347527 3635 3965 412 43 4669 4684 4968 5048 51196 51703 5230 5277 5290 5291 5293 5294 5305 5321 5332 5335 54187 55512 55997 56983 570 57126 5728 60495 653509 6646 7124 7157 811 83539 8794 8809 8877 92579 929 933 945 952 962	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)	DisGeNET
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)	DisGeNET
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	DLD	1738	Homo sapiens (human)	DisGeNET
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)	DisGeNET
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ACACA ACACB ACADM ACADVL ACO1 ADIPOQ ADRB3 ALDH2 CYP2E1 CYP8B1 DGAT2 FASN G6PD GPAM HADHA IRS2 LEP LEPR LPL MLYCD NAMPT PKLR PLA2G7 PNPLA3 PPARGC1A SCD SIRT2 SIRT4 SIRT6 TLR4 TNF UCP2	10135 10891 155 1571 1582 217 2194 22933 23409 23417 2539 3030 31 32 34 37 3952 3953 4023 48 51548 5313 57678 6319 7099 7124 7351 7941 80339 84649 8660 9370	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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