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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 **3751 - 3775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:5847	posterior myocardial infarction	DLD	1738	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:8527	monocytic leukemia Aliases: Schilling's leukaemia Schilling's leukemia monocytic leukaemia	DLD ICAM1 IDH1 KLRK1 MACROD1 VCAM1	1738 22914 28992 3383 3417 7412	Homo sapiens (human)	DisGeNET
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	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)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET
DOID:0111049	platelet-type bleeding disorder 17 Aliases: BDPLT17 hereditary thrombasthenia-thrombocytopenia	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)	DisGeNET DisGeNET
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	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)	DisGeNET DisGeNET
DOID:11125	qualitative platelet defect Aliases: Qualitative platelet deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 PRNP SELP VCAM1 XYLT1	10855 1738 27163 3956 3964 4669 5319 5320 5621 60495 6403 64083 64131 7412 8398	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	DLD ECHS1 GYG2 HIBCH HSD17B6 MRC1 OGDH PDHA1 PDHB PDHX PGD PTGS1 SDHA SDHB SDHC SLC39A8 SUCLA2 SUCLG1 TKT TYMP	1738 1890 1892 26275 4360 4967 5160 5162 5226 5742 6389 6390 6391 64116 7086 8050 8630 8802 8803 8908	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11561	hypertensive retinopathy	DLD DLST FH HSD11B2 MDH2 SDHA SDHB SDHC SDHD	1738 1743 2271 3291 4191 6389 6390 6391 6392	Homo sapiens (human)	DisGeNET
DOID:13353	diffuse interstitial keratitis	DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)	DisGeNET
DOID:0111147	angioimmunoblastic T-cell lymphoma	DLAT GAPDH IDH1 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 SMUG1 STS	1737 23583 2597 3417 3418 412 5290 5291 5293 5294 5335	Homo sapiens (human)	DisGeNET
DOID:679	basal ganglia disease	DLAT GAD1 GAD2 GCDH GLDC GLUL HPRT1 MMUT PDHA1 PIGN PIGP PIGQ PLA2G1B PLA2G2A PLA2G6 PLB1 ST8SIA3	151056 1737 23556 2571 2572 2639 2731 2752 3251 4594 51046 51227 5160 5319 5320 8398 9091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	DIE2	853142	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	DIE2	853142	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	DHDDS IDH1 IDH2 PIK3CA	3417 3418 5290 79947	Homo sapiens (human)	DisGeNET
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	DHDDS HACD1	79947 9200	Homo sapiens (human)	DisGeNET
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)	DisGeNET
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	DHCR7 MAN1B1 PAFAH1B1 SMUG1 TMTC3	11253 160418 1717 23583 5048	Homo sapiens (human)	DisGeNET
DOID:10944	tongue disease	DHCR7 FCN2 HPGDS PLCB4 PTDSS1	1717 2220 27306 5332 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11514	fissured tongue Aliases: Congenital fissure of tongue Congenital plicated tongue Fissure of tongue Fissure of tongue, congenital Furrowed tongue Plicated tongue Tongue, Fissured geographic tongue and fissured tongue lingua plicata scrotal tongue	DHCR7 FCN2 HPGDS PIK3CA PTEN SDHB SDHC SDHD	1717 2220 27306 5290 5728 6390 6391 6392	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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