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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 **5001 - 5025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:1921	Klinefelter syndrome Aliases: 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy	CYP19A1 EBP GK IL1RAPL1 PNPLA6 SOAT1 STS	10682 10908 11141 1588 2710 412 6646	Homo sapiens (human)	DisGeNET
DOID:14679	VACTERL association	ENOSF1 IL18R1 OGG1 PIK3CA PTEN	4968 5290 55556 5728 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14699	thrombocytopenia-absent radius syndrome Aliases: Radial aplasia-thrombocytopenia syndrome Thrombocytopenia with absent radii (TAR) syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss Aliases: SHFM1D congenital deafness with split hands and feet	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2926	Klippel-Trenaunay syndrome Aliases: Haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome angioosteohypertrophy syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14292	vulvar dystrophy Aliases: Dystrophy of vulva	DCN IDH1 IDH2	1634 3417 3418	Homo sapiens (human)	DisGeNET
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44 CEACAM5 CEACAM7 PGP	1048 1087 283871 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12328	marasmus Aliases: Nutritional atrophy Nutritional marasmus	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC MPI OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PMM2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 4351 47 5091 5106 5290 5291 5293 5294 5338 5373 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11320	Kyasanur forest disease	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)	DisGeNET
DOID:10604	lactose intolerance Aliases: LM - Lactose malabsorption	FUT2 GLB1 LCT PGM3 SI	2524 2720 3938 5238 6476	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	ACHE CEACAM6 CHAT DPAGT1 GMPPB ICAM1 PTEN	1103 1798 29925 3383 43 4680 5728	Homo sapiens (human)	DisGeNET
DOID:4998	trichorhinophalangeal syndrome type II Aliases: Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2	EXT1	2131	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET
DOID:786	laryngeal 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)	DisGeNET DisGeNET
DOID:11527	laryngostenosis Aliases: Stenosis of larynx	FIG4 GLT8D1 SLC26A2	1836 55830 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3437	laryngitis	OVGP1	5016	Homo sapiens (human)	DisGeNET
DOID:9537	Lassa fever	DAG1 SLC17A5	1605 26503	Homo sapiens (human)	DisGeNET
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)	DisGeNET DisGeNET

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