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 **3726 - 3750** of **15957** in total

« First

‹ Prev

…

146

147

148

149

150

151

152

153

154

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	HGF KDR VEGFA	3082 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	ABCB1 ADA2 ADIPOQ AKT1 ALOX5 ATF3 C3 CCL1 CCL2 CCL5 CCR5 CD14 CD163 CD1D CD209 CD274 CD36 CD86 CLEC4M EGFR EREG GBE1 HAVCR2 HLA-DPB1 HLA-DQB1 HLA-DRB1 IL13 IL15 IL1RN IL4R IL6 IL6R ITIH4 JUN KIR3DS1 LTA MARCO MBL2 MIF NOD2 NOS2 PDCD1 PDCD1LG2 PLAUR SFTPA1 SLC11A1 TAP1 TLR1 TLR2 TLR4 TLR9 TNF TREM1	10332 1234 1956 2069 207 240 2632 29126 30835 3115 3119 3123 3557 3566 3569 3570 3596 3600 3700 3725 3813 4049 4153 4282 467 4843 5133 51816 5243 5329 54106 54210 6346 6347 6352 64127 653509 6556 6890 7096 7097 7099 7124 718 80380 84868 8685 912 929 9332 9370 942 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	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:0090143	brachyolmia-amelogenesis imperfecta syndrome Aliases: DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5	LTBP3	4054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	ARSL EBP NSDHL	10682 415 50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081182	autosomal recessive intellectual developmental disorder 6	GRIK2	2898	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1PR2	9294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	FOS PIK3CA PIK3CB	2353 5290 5291	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:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	BRWD1 CFAP74 DNAH5 DNAH7 ODAD3 PCSK5 SLIT2 SPEF2 TTLL1	115948 1767 25809 5125 54014 56171 79925 85452 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110356	retinitis pigmentosa 18 Aliases: RP18	PRPF3	9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	CCL5 MBL2	4153 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:850	lung disease	ACE2 ACE ACTR2 ADORA1 ADORA2A APEX1 BDKRB2 C3AR1 C5AR1 CAT CCL2 CCL5 CCR2 CFTR CNTN2 COL5A2 CSF3 CX3CL1 DEFB1 EDNRA EGFR EGR1 F2RL1 GPX3 GSN HLA-DPB1 IFNG IL10 IL13 IL15 IL18R1 IL1A IL2 IL6 MEFV MIF MMP9 MPO MUC1 NOS2 NOS3 NR3C1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TGFB1 TLR2 TLR4 TNF	10097 1080 1290 134 135 1440 1636 1672 1909 1956 1958 2150 2878 2908 2934 3115 328 3458 3552 3558 3569 3586 3596 3600 4210 4282 4318 4353 4582 4843 4846 5054 59272 624 6347 6352 6376 6439 6440 6441 653509 6900 7040 7097 7099 7124 719 728 729230 729238 847 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ADRB1 APOB BAMBI EGR1 ELN ENO3 LGALS3 MMP1 NFATC1 NPPC OGT SP7 TNF TNFRSF11B	121340 153 1958 2006 2027 25805 338 3958 4312 4772 4880 4982 7124 8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081153	common variable immunodeficiency 11	IL21	59067	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

International Collaboration

Acknowledgements