GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **3776 - 3800** of **4649** in total

« First

‹ Prev

…

148

149

150

151

152

153

154

155

156

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111740	X-linked deafness 6 Aliases: DFNX6	COL4A6	1288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	CHMP4B	128866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	COL4A5	1287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ACE ADM AGT AGTR2 ALOX15 ANXA5 AXL BDKRB1 C1QA C3 C6 CCL1 CCL7 CD163 CD59 CFI CNDP1 COL4A3 CSF1 CX3CL1 EP300 F2 FBN1 FCGR2B FCGR3A FN1 FOS GAS6 GDNF IFNG IL1RN ITGA3 ITGB1 ITGB3 KLKB1 LTBP1 LTC4S MMP3 MPO MS4A1 NGF NPPA PDGFB PDGFD PLA2G7 PRF1 PTAFR SERPINE1 SPP1 TBXAS1 TF TNFRSF1A TNFRSF1B TPO VCAM1 VEGFA	1285 133 1435 1636 183 186 2033 2147 2200 2213 2214 2335 2353 246 2621 2668 308 3426 3458 3557 3675 3688 3690 3818 4052 4056 4314 4353 4803 4878 5054 5155 5551 558 5724 623 6346 6354 6376 6696 6916 7018 712 7132 7133 7173 718 729 7412 7422 7941 80310 84735 931 9332 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	COL4A3 COL4A4 COL4A5 HLA-DRB1 MMP3	1285 1286 1287 3123 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	COL4A2	1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	ACVR1 APEX1 COL4A2 ERAP1 ERAP2 GPX3 LNPEP RBP4	1284 2878 328 4012 51752 5950 64167 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM1 DNM2 TLR4 TLR5	1282 1285 1286 1287 1288 1759 1785 7099 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060263	porencephaly	COL4A1 COL4A2	1282 1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	COL4A1 COL4A2 COL6A3 IRS1 TNRC6B TSC2	1282 1284 1293 23112 3667 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	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:0050851	glomerulosclerosis	ACE AGTR1 AGTR2 APOE COL3A1 HBEGF INF2 MMP1 MMP9 PLA2G7 PLEKHA7 PPARG SERPINE1 SHC1 SPP1	1281 144100 1636 1839 185 186 348 4312 4318 5054 5468 64423 6464 6696 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness Aliases: EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

International Collaboration

Acknowledgements