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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **2701 - 2725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:12466	secondary hyperparathyroidism	ALPL CYP24A1 CYP27B1 CYP2B6 CYP2R1 CYP3A4 KL PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 UMOD	120227 1555 1576 1591 1594 249 5290 5291 5293 5294 5743 7369 9365	Homo sapiens (human)
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	ABO AMACR B4GALT1 CD14 CRLS1 CYP1A1 CYP24A1 CYP2R1 DGAT1 GALNS LPL LYZ PLA2G1B PLB1 SCD SFTPA1 SLC26A2 TLR4	120227 151056 1543 1591 1836 23600 2588 2683 28 4023 4069 5319 54675 6319 653509 7099 8694 929	Homo sapiens (human)
DOID:5003	eunuchism	B4GALNT1 CD44 CD55 CTNS CYP2R1 G6PC3 HS6ST1 NT5E SEMA7A STS	120227 1497 1604 2583 412 4907 8482 92579 9394 960	Homo sapiens (human)
DOID:14228	oligospermia	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)
DOID:0070186	Y-linked spermatogenic failure 1 Aliases: SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	ANXA5 CYP11A1 CYP17A1 CYP19A1 CYP2R1 EPHX2 GAPDH HPGDS HSD3B2 LCT LDHC PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1583 1586 1588 2053 2597 27306 308 3284 3938 3948 412 5223 5290 5291 5293 5294 5552 5634 6716 83639	Homo sapiens (human)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ACAT2 ACSL6 B4GALNT1 BCKDHB CD38 COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GALT HACD1 HSD17B3 HSD17B4 IGF2R KL LGALS1 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN XPNPEP2	120227 1312 142 1497 1555 1557 1581 1582 1588 23305 2583 2592 3293 3295 3482 39 3956 5226 5290 5291 5293 5294 5321 5373 5728 594 7512 84649 9200 92579 9365 952	Homo sapiens (human)
DOID:0080525	differentiated thyroid gland carcinoma	CD44 CNTN5 CNTN6 CYP24A1 CYP27B1 CYP2R1 GGT1 GPI GPX3 L1CAM LGALS1 LGALS3 NCAM1 NEIL3 PARP1 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 RENBP SDHD SMUG1 TKTL1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8	120227 128869 142 1591 1594 23583 2678 27255 2821 2878 3897 3956 3958 4684 5290 5291 5293 5294 53942 54575 54576 54577 54578 54657 54658 54659 55247 5728 5730 5743 5973 6392 8277 960	Homo sapiens (human)
DOID:4184	pseudohypoparathyroidism	ADH1A APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 GPC1 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 2817 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:11199	hypoparathyroidism	ADH1A AGA APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 175 3030 3032 353 412 427 7903 9993	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: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:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	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: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: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: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: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:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	ABO ACE ADPRH ALDH7A1 ANXA5 APRT ART5 CD44 CD55 CTBS CYP11A1 CYP19A1 CYP27A1 CYP2B6 ENO1 GLB1 GOLPH3 HSD17B1 ICAM1 NAGLU NT5E PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRG2 PRSS8 PTEN SLC5A1 STS TM7SF2 XYLT2	116969 141 1486 1555 1583 1588 1593 1604 1636 2023 2720 28 308 3292 3383 353 412 4669 4907 501 5290 5291 5293 5294 5553 5652 5728 64083 64132 6523 7108 9468 960	Homo sapiens (human)
DOID:10969	hemiplegia Aliases: Infantile hemiplegia Postnatal infantile hemiplegia	ACHE ACSM1 ACSM2A ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 250 2571 26033 2639 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:10970	spastic quadriplegic cerebral palsy Aliases: inherited congenital spastic quadriplegia inherited congenital spastic tetraplegia quadriplegic infantile cerebral palsy spastic quadriplegia tetraplegic infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)

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