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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 **801 - 825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0112249	GAPO syndrome Aliases: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome	ANTXR1	84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111669	hyaline fibromatosis syndrome Aliases: HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050871	fibroma	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:7427	anthrax disease	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ANXA1 AQP5 CCR5 FAR2 IL10 IL1RN IL6 MUC16 MUC1 MUC5AC PLTP SOD1 TLR2 TLR4	1234 301 3557 3569 3586 362 4582 4586 5360 55711 6647 7097 7099 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ANXA1 CFH CTLA4 EGR1 FGF7 FGFR2 HRAS IL2 ING3 IRAK1 KMT2C LTA4H LZTS1 MMP2 MMP9 NME1 OCA2 PLAU RIPK1 SOX2 STAT3 TLR9 TP53 XRCC5 XRCC6	11178 1493 1958 2252 2263 2547 301 3075 3265 3558 3654 4048 4313 4318 4830 4948 5328 54106 54556 58508 6657 6774 7157 7520 8737	Homo sapiens (human)	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	ANXA1 PIK3CA	301 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ANXA1	301	Homo sapiens (human)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ANXA5 APOE C3 CCL2 CCR2 CFI ELN FLT1 IGF1R IGFBP2 IL6 KDR LOXL1 NOS3 PDGFB PDGFRB PON1 SOD2 TLR2 TLR3 VEGFA	2006 2321 308 3426 348 3480 3485 3569 3791 4016 4846 5155 5159 5444 6347 6648 7097 7098 718 729230 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ANXA5 APOE CCR1 CHRNA4 CHRNA7 ELK1 GBA1 GPR37 IGF1R IGF2 KLK6 MAP2 NEFL NGFR NOS2 PCNA SNCA SNCB SNCG TARDBP	1137 1139 1230 2002 23435 2629 2861 308 348 3480 3481 4133 4747 4804 4843 5111 5653 6620 6622 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ANXA5 ATP7A ATP7B CP CYP27B1 HMGCR SMPD1	1356 1594 308 3156 538 540 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ANXA5 NPHS2 NR3C1 PLA2G7 PLCE1 TRPC6	2908 308 51196 7225 7827 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ANXA7 APC BAX CA12 CHD4 CSF1R CTNNB1 CYP24A1 DAXX EEF2 FOSL2 FOXA1 HMGB1 KDM6A LOX MGMT MMP2 MMP9 MYD88 NOS2 PCSK5 PFAS PIK3CA PIK3R3 RAC1 RNASET2 SMC2 SRC SRSF4 SRSF5 SRSF6 STAT1 STAT3 STAT5A STAT5B STAT6 TET2 TGFB1 UBR5 VEGFC	10592 1108 1436 1499 1591 1616 1938 2355 310 3146 3169 324 4015 4255 4313 4318 4615 4843 5125 51366 5198 5290 54790 581 5879 6429 6430 6431 6714 6772 6774 6776 6777 6778 7040 7403 7424 771 8503 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ANXA7 CRKL MRE11 SNAI1 SRSF6	1399 310 4361 6431 6615	Homo sapiens (human)	Alliance of Genome Resources
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	AOC3 AQP4 CCR1 ITM2B MME OLR1	1230 361 4311 4973 8639 9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	AOC3 ATP7A EFEMP2 ELN FBN1 HDAC4 PTGER4 SERPINE1 SPP1	2006 2200 30008 5054 538 5734 6696 8639 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 AUTS2 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MBD5 MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 26053 2890 29072 3183 55777 57609 6418 64864 6874 7204 81562 818 9757 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	AP3B1 BDNF CCL2 CCR2 CCR5 CD28 CMA1 HGF IL1A IL1RN IL2 IL4R KIT MMP9 MPO MUC1 NGF NOS2 NR3C1 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TLR9	1215 1234 2908 3082 3552 3557 3558 3566 3815 4318 4353 4582 4803 4843 5054 54106 627 6347 6439 6440 6441 653509 7040 729230 8546 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:1227	neutropenia	AP3B1 C5 C5AR1 CSF2 CSF3 CSF3R FCGR2A ITGAM MKI67 PTAFR SRP54 STAT2 STAT3 TNF	1437 1440 1441 2212 3684 4288 5724 6729 6773 6774 7124 727 728 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	AP3B1 CCL5 CXCR4 DTNBP1 SLC7A11	23657 6352 7852 84062 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	AP3B1 DOCK7 DTNBP1 LYST SLC7A11	1130 23657 84062 85440 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	AP3B1	8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	AP3B2	8120	Homo sapiens (human)	Alliance of Genome Resources

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