GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2401 - 2425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	B3galt6 B4galt7	117592 218271	Mus musculus (house mouse)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)
DOID:12336	male infertility	ACE ACSBG2 ACSL6 ALDH2 ANXA5 ATP6V0A2 CAT CCDC115 CLC CLEC7A COMT CTNS CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 ENO1 ENO4 GALNTL5 GBA2 GPX3 HPGDS LDHC MPG OGG1 PDHA2 PDIA3 PGAM4 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 RGN SRGN	1178 1312 1497 1543 1545 1555 1586 1588 1636 168391 2023 217 23305 23545 27306 2878 2923 308 387712 3948 4350 441531 4968 5161 5290 5291 5293 5294 5538 5552 57704 64581 81616 84317 847 9104	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	Homo sapiens (human)
DOID:1824	status epilepticus Aliases: Grand mal status	Apod Gsk3b Idh2 Il6st Kcnj11 Ogg1 Pgf Tnf	11815 16195 16514 18294 18654 21926 269951 56637	Mus musculus (house mouse)
DOID:4762	vasculogenic impotence	Apod	11815	Mus musculus (house mouse)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	Aprt	11821	Mus musculus (house mouse)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	Atf4	11911	Mus musculus (house mouse)
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 NDUFAB1 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4706 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:10461	dentin caries Aliases: Compound dental caries Dental caries extending into dentine	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	B3gat1 Bad Chi3l1 Il18r1 Tnf	12015 12654 16182 21926 76898	Mus musculus (house mouse)
DOID:0080855	Parkinsonism	Bad Comt Eno2 Gba1 Gsk3a Kcnj11	12015 12846 13807 14466 16514 606496	Mus musculus (house mouse)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Bad Cs Nr1d1 Pcna Phka1 Plod3 Ucp2	12015 12974 18538 18679 217166 22228 26433	Mus musculus (house mouse)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Bad Eno2 Il6st Kcnj11 Npy1r Tnf	12015 13807 16195 16514 18166 21926	Mus musculus (house mouse)
DOID:3525	middle cerebral artery infarction	Bad Gapdh Gsk3b Has2 Hmgb1 Nampt Ogg1 Tnf Upp1	12015 14433 15117 15289 18294 21926 22271 56637 59027	Mus musculus (house mouse)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	Bad Enpp1 Errfi1 Igf2 Ins1 Ins2 Lep Pik3r1	12015 16002 16333 16334 16846 18605 18708 74155	Mus musculus (house mouse)
DOID:11132	prostatic hypertrophy	Bad Myc	12015 17869	Mus musculus (house mouse)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Bad Ppargc1a Tlr4	12015 19017 21898	Mus musculus (house mouse)

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