GlyCosmos Portal

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

Displaying entries **12901 - 12925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	Coch	12810	Mus musculus (house mouse)	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:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV 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:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	Cntn1	12805	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:848	arthritis Aliases: Inflammatory disorder of joint	Cd40 Cnr2 Fcgr4 Gc H2-Aa H2-Ab1 Il23r Tlr4	12802 14473 14960 14961 209590 21898 21939 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	Cnr1 Depdc5 Mmp9	12801 17395 277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	Cnr1 Cyp2c29 Gsr H2-Eb1 Il27	12801 13095 14782 14969 246779	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	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:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:8886	chorioretinitis Aliases: retinochoroiditis	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	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:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	COL2A1 ENPP1 HLA-B IL6 TNF	1280 3106 3569 5167 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:5614	eye disease	COL2A1 EYA3 EYA4 F2 MYRF RP1L1 TLR2 TLR3 TLR4 TNF	1280 2070 2140 2147 7097 7098 7099 7124 745 94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:10159	osteonecrosis Aliases: Avascular necrosis of bone aseptic necrosis bone necrosis	A2M ABCB1 ANXA2 CAT COL2A1 F2 F5 HIF1A IL23R LRP5 MIA NOS3 PLAT PLG PROC SERPINC1 TFPI VWF	1280 149233 2 2147 2153 302 3091 4041 462 4846 5243 5327 5340 5624 7035 7450 8190 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	COL2A1 HAPLN1	1280 1404	Homo sapiens (human)	Alliance of Genome Resources

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