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 **14401 - 14425** of **15957** in total

« First

‹ Prev

…

573

574

575

576

577

578

579

580

581

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	AR FKBP4 KAT7	11143 2288 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060794	hypomyelinating leukodystrophy 7 Aliases: HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	C3 CCL7 CD36 CHIA CSF2 CTLA4 EGR1 ELN HLA-DQB1 HNRNPA3 IL1RN KIF3A MARCO MMP13 TERT TNF	11127 1437 1493 1958 2006 220988 27159 3119 3557 4322 6354 7015 7124 718 8685 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10	EMILIN1	11117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070288	primary autosomal recessive microcephaly 17 Aliases: MCPH17	CIT	11113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070297	primary microcephaly Aliases: true microcephaly	CIT KNL1	11113 57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH18A1 CTH ECHS1 GCSH GLUL HIBADH HIBCH HMGCL HMGCLL1 KMO MAT2A PCCA PCCB PHGDH SHMT1 SHMT2 TARS1 TARS2 TARS3	11112 123283 1491 1892 26227 26275 2653 2752 3155 4144 5095 5096 54511 5832 6470 6472 6897 80222 8564	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	Tars1	110960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111870	nonphotosensitive trichothiodystrophy 7 Aliases: TTD7	Tars1	110960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ADAMTS5 ARSB TNF TNFSF11	11096 411 7124 8600	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ACAN ADAM12 ADAMTS14 ADAMTS5 AGER ASPN ATP7A BAD BAG6 BAX BMP2 BMP7 BMPR1A CASP9 CCR4 CD36 CILP CLEC3B COL11A1 COL1A1 COL2A1 COL9A1 DDR2 EFEMP2 EGR1 ENPP1 EPAS1 ERRFI1 ESR1 FCGR2A FGFR1 FLT1 FN1 FRZB GDF5 GHR HBP1 HFE HIF1A IGF1R IGF2 IGFBP3 IHH IL1A IL4R IL5 INS JAG1 LEP MATN3 MMP13 MMP1 MMP2 MMP3 MMP8 MMP9 NCOR2 NFATC1 NGF PECAM1 POMC PTGS2 SERPINA1 TGFBR1 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D TNFRSF11B	11096 1233 1277 1280 1297 1301 140766 176 177 182 1958 2034 2099 2212 2260 2321 2335 2487 2690 26959 30008 3077 3091 3480 3481 3486 3549 3552 3566 3567 3630 3952 4148 4312 4313 4314 4317 4318 4322 4772 4803 4921 4982 5167 5175 5265 538 54206 5443 54829 572 5743 581 650 655 657 7046 7123 7917 8038 8200 842 8483 8793 8794 8795 8797 948 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ADAMTS13 CD36 HLA-DQB1 PROC TFPI	11093 3119 5624 7035 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:13133	HELLP syndrome	ADAMTS13 CD40LG ERBB2 FAS FASLG	11093 2064 355 356 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ABO ADAMTS13 CAST CYP2C19 FCGR2A G6PD HLA-DQB1 HP IL13 MBL2 TNF	11093 1557 2212 2539 28 3119 3240 3596 4153 7124 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	Chrna2	110902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	Chrna2	110902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)	Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	Casr Flt1 Flt3 Flt4 Gsr Kdr Pdgfra Slc34a1 Slc9a1 Slc9a4 Tgfb1 Wwtr1 Yap1	110895 12374 14254 14255 14257 14782 16542 18595 20505 20544 21803 22601 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	Abcb1b Adamts1 Ager Akap12 Akap1 Akt1 Angpt1 Angpt2 Aqp3 Aqp4 Aqp5 Aqp8 Bad Bmp6 C3 Cast Ccl2 Ccr5 Clu Cp Csf2rb2 Csf2rb Csf3 Cspg4 Cst3 Ctsb Ctsc Ctsl Dbh Dpysl2 Drd2 Epor Esr2 F2r Fas Fasl Fga Gc Gfra1 Gja1 Glud1 Hspa1a Hspa8 Hspa9 Il17a Il6st Kcnk2 Kdr Lif Lonp1 Map2 Mapt Mdh2 Mmp13 Mmp2 Mmp9 Naip2 Nos3 Nptxr Nr3c1 Oprm1 Pak1 Pcna Pgf Pla2g4a Proz Ptgs1 Ptgs2 Ret Scn5a Sele Slc11a2 Slc29a1 Slc6a1 Slc8a1 Slc8a2 Slc8a3 Src Tek Tgfb1 Th Tjp1 Tnfrsf1a Ttr Vip	110891 110893 11504 11596 11600 11601 11640 11651 11828 11829 11830 11833 12015 121021 12161 12266 12380 12759 12774 12870 12934 12983 12984 12985 13010 13030 13032 13039 13166 13489 13857 13983 14062 14102 14103 14161 14473 14585 14609 14661 14815 15481 15526 16171 16195 16526 16542 16878 17386 17390 17395 17448 17756 17762 17948 18127 18174 18390 18479 18538 18654 18669 18783 19224 19225 193740 19713 20271 20296 20339 20541 20779 21687 21803 21823 21872 21937 22139 22353 232333 63959 66901 73340 74142 83397	Mus musculus (house mouse)	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