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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4376 - 4400** of **4649** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14	55033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	AEBP1	165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	COL5A2	1290	Homo sapiens (human)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	COL5A1 COL5A2 LUM	1289 1290 4060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1	1277	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	CD163 IL3	3562 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	CACNA1C CACNA1D CACNA1F CACNA1S CAPN1 CAPN3 CTNNAL1 CTSS DAG1 DMD DRP2 DTNA EML3 EML4 ITGA7 KCNMA1 KCNU1 NOS1 PLA2G6 SLC6A14 SLC6A5 SNTB2 SNTG2 UTRN	11254 1520 157855 1605 1756 1821 1837 256364 27436 3679 3778 4842 54221 6645 7402 775 776 778 779 823 825 8398 8727 9152	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	ABCC2 ABCC3 RDX SLCO1A2	1244 5962 6579 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:12557	Duane retraction syndrome Aliases: Duane's syndrome Stilling-Turk-Duane syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACTR1A CBS CTSS DBN1 DOP1A DOP1B DSCAM DSCAML1 DYRK1A HSPD1 IGFBP3 MMP9 MTHFD1 PCNT POFUT2 RELN RPLP0 SNAP25 SOD1 SRSF4 SYNJ1 SYNJ2 TIMP1 TUBA1A	10121 1520 1627 1826 1859 23033 23275 3329 3486 4318 4522 5116 5649 57453 6175 6429 6616 6647 7076 7846 875 8867 8871 9980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	KRT5 POFUT1 POGLUT1	23509 3852 56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050470	Donohue syndrome Aliases: Leprechaunism	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090144	Donnai-Barrow syndrome Aliases: DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness	LRP2	4036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111887	Diamond-blackfan anemia 3 Aliases: DBA3 RPS24-related Diamond-Blackfan anemia	RPS24	6229	Homo sapiens (human)	Alliance of Genome Resources
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	FLVCR1 HEATR3 RPL18 RPL35A RPL8	28982 55027 6132 6141 6165	Homo sapiens (human)	Alliance of Genome Resources

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