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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 **1451 - 1475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1492	obsolete eye and adnexa disease	ACE AKR1A1 PLA2G7 SORD	10327 1636 6652 7941	Homo sapiens (human)
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	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:14247	chronic purulent otitis media Aliases: chronic suppurative otitis media	CAT	847	Homo sapiens (human)
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:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)
DOID:0080218	primary spontaneous pneumothorax	CERS1	10715	Homo sapiens (human)
DOID:10458	legionellosis Aliases: Legionella infection	MBL2 PIKFYVE	200576 4153	Homo sapiens (human)
DOID:2742	auditory system disease Aliases: ear and mastoid disease	CD14 SLC26A2	1836 929	Homo sapiens (human)
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)
DOID:0110785	hereditary spastic paraplegia 34 Aliases: SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34	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:0070186	Y-linked spermatogenic failure 1 Aliases: SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)
DOID:0080388	nephrotic syndrome type 7 Aliases: Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis	DGKE	8526	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:3878	obsolete intestinal pseudo-obstruction	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)

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