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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 **2751 - 2775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:8867	molluscum contagiosum	TLR2	7097	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	ACHE GBE1	2632 43	Homo sapiens (human)
DOID:0110464	autosomal recessive nonsyndromic deafness 103 Aliases: DFNB103 autosomal recessive deafness 103	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:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1 GALC PSAP	2581 427 5660	Homo sapiens (human)
DOID:0050336	hypophosphatemia	ACOT8 ALDOB ALG13 CTNS CYP27B1 CYP2R1 ENPP1 KL NAMPT OCRL SLC2A2 SUCLG1	10005 10135 120227 1497 1594 229 4952 5167 6514 79868 8802 9365	Homo sapiens (human)
DOID:3225	tracheal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:1591	renovascular hypertension	ACE FIG4 G6PD PKD1 PTGS1 PTGS2 SLC33A1 TM7SF2	1636 2539 5310 5742 5743 7108 9197 9896	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	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:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:10327	anthracosis Aliases: Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung	CAT GGT1 IL18R1 MBL2 OGG1 PTGS2 SELE UGT8	2678 4153 4968 5743 6401 7368 847 8809	Homo sapiens (human)
DOID:10141	obsolete asthenopia	ALDH2 ALDH3A2 CA4 CACNA2D4 CHST6 CTNS ELOVL1 HADHA HGSNAT HK1 IDH3A IDH3B PCYT1A PIKFYVE PLCD1 PNPLA6 POMGNT1 SPHK2	10908 138050 1497 200576 217 224 3030 3098 3419 3420 4166 5130 5333 55624 56848 64834 762 93589	Homo sapiens (human)
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB IDUA	2990 3425	Homo sapiens (human)
DOID:0110453	dilated cardiomyopathy 1EE Aliases: CMD1EE	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome	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:3951	acute myocarditis	LGALS3 LGALS9 PRKAA2 PTGS2 SMUG1 SULT1E1	23583 3958 3965 5563 5743 6783	Homo sapiens (human)
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)

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