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 **4426 - 4450** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11126	acquired thrombocytopenia Aliases: secondary thrombocytopenia	CRYL1	51084	Homo sapiens (human)
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)
DOID:2355	anemia Aliases: anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 TNF UGCG UGT1A1 UMPS VCAM1	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 7124 729920 7357 7372 7412 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)
DOID:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	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:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)
DOID:9767	myocardial stunning	CAT SMUG1	23583 847	Homo sapiens (human)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ACE ACSS2 ADIPOQ ITPKC MBL2 MICA PLA2G15 PLCB1 PLCB4 SRGN SULT1E1	100507436 1636 23236 23659 4153 5332 5552 55902 6783 80271 9370	Homo sapiens (human)
DOID:0060300	complement component 7 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:8368	chordoid meningioma Aliases: meningioma, chordoid	PTEN	5728	Homo sapiens (human)
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:11320	Kyasanur forest disease	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1 TFAP2B	1103 1109 1545 1555 1634 4907 4968 7021 847 8818	Homo sapiens (human)
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:0110580	autosomal dominant nonsyndromic deafness 54 Aliases: DFNA54 autosomal dominant deafness 54	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:0060668	anencephaly	ABO B4GAT1 COMT EFNA5	11041 1312 1946 28	Homo sapiens (human)
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CD14 CD38 CYP19A1 CYP21A2 CYP27B1 DAG1 FUT2 GAD1 GAD2 GLUL GPX3 ICAM1 IL18R1 IL18RAP IL1RL1 LGALS3 MBL2 NCAM1 NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PTEN PTGDS PTGS2 RENBP SOAT1	1588 1589 1594 1605 2524 2571 2572 2752 2878 3383 3958 4153 4684 4907 5130 5290 5291 5293 5294 5336 5728 5730 5743 5973 6646 8807 8809 9173 929 952	Homo sapiens (human)

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