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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 **5551 - 5575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:13924	necrotizing ulcerative gingivitis Aliases: ANUG Angina - Vincents Vincent angina Vincent's angina Vincent's angina - pharyngitis Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivostomatitis acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis acute ulceromembranous gingivitis early acute necrotising gingivitis trench mouth	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	GBA1	2629	Homo sapiens (human)
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)
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	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:5518	penis squamous cell carcinoma Aliases: Epidermoid cell carcinoma of penis	CD109 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	135228 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0050912	colon adenoma	CHKA RBP4	1119 5950	Homo sapiens (human)
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	ACACA ALDH1A3 ALG1 ALPI ALPP APRT ARSA BST1 CD38 CD44 CD74 CEACAM5 CYP1A1 EFNA1 FOLR1 FOLR2 HPSE ICAM1 L1CAM MCAT MSLN MTAP NAGLU PARP1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 RTN4R SMUG1 SPHK1 SPHK2 SRGN TBXAS1 TM7SF2 TPI1	10232 1048 10855 142 1543 1942 220 2348 2350 23583 248 250 27349 31 3383 353 3897 410 4507 4669 5209 5290 5291 5293 5294 5552 5563 56052 56848 5743 65078 683 6916 7108 7167 8877 952 960 972	Homo sapiens (human)
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ACOX1 ACSL3 AGA ALG13 ALG9 ALOX5 ALPL ALPP ANXA7 ARSA ATRNL1 B3GAT3 B3GLCT CHI3L1 CHST14 CHST3 CLC CNTN1 COLEC10 COLEC11 COMT CPO CYP11B1 CYP24A1 CYP2B6 DGCR2 DSE ENPP1 EXT2 FKTN FREM1 FUCA1 GAD2 GNPTAB GPC1 GPC3 GPC6 HPGDS HSD11B1 HSD17B4 IDS IL1RL1 IL1RL2 L1CAM LYZ MASP1 MGAT2 MPDU1 MRC1 NAAA NANS NGLY1 NT5E PDHX PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PNPLA6 PTEN PTGDS PTGS2 SDC1 SFTPA1 SFTPA2 SFTPD SLC2A10 SLC35A2 SLC39A8 SMC3 SRD5A3 SULT1E1 VCAM1	10082 10584 10908 1116 113189 1178 1272 130749 1312 145173 1555 158326 1584 1591 175 2132 2181 2218 240 249 250 2517 2572 26033 26229 27163 2719 27306 27315 2817 284098 29940 310 3290 3295 3423 3897 4069 410 4247 4360 4907 51 51604 5167 5290 5291 5293 5294 5320 54187 55650 55768 5648 5728 5730 5743 6382 64116 6441 653509 6783 729238 7355 7412 78989 79158 79644 79796 79868 8050 81031 8399 84720 84992 8808 9126 9173 93210 9469 9487 9526 9993	Homo sapiens (human)
DOID:5166	endometrial stromal tumor Aliases: endometrial Stromal neoplasm	CYP19A1	1588	Homo sapiens (human)
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0110302	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:4189	mutism	TMTC2	160335	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	AKR1B1 CD33 CD38 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 NCAM1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 VCAM1	1012 1048 10682 1577 1738 2208 22914 231 2539 27036 27306 28992 3383 3417 3418 4684 5130 5286 5290 5291 5293 5294 5506 55500 5728 5743 7412 8809 9126 9215 945 952	Homo sapiens (human)
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	CD44 CHGA PYGM SIGLEC7 SLC2A2	1113 27036 5837 6514 960	Homo sapiens (human)
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)
DOID:559	acute pyelonephritis	ACE ICAM1 MBL2 PTGS2 RBP4 SMUG1 UGT1A1	1636 23583 3383 4153 54658 5743 5950	Homo sapiens (human)
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	CYP17A1 CYP19A1	1586 1588	Homo sapiens (human)
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)
DOID:11695	portal vein thrombosis	CHI3L1 NAAA PC PIGM SELP SLC17A5 SMUG1	1116 23583 26503 27163 5091 6403 93183	Homo sapiens (human)
DOID:5612	spinal cancer Aliases: Intraspinal tumor malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm tumor of the Spinal Cord	ACSS2 ARSA PLA2G15 SMUG1 TREH	11181 23583 23659 410 55902	Homo sapiens (human)
DOID:0050847	sleep apnea	ACE ADIPOQ CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LEPR LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3953 3958 54187 55556 5728 5743 79158 9370	Homo sapiens (human)

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