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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 **226 - 250** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:9266	cystinuria	SLC3A1	6519	Homo sapiens (human)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ARID1A ATM ATR BRCA1 CALR CD163 CHRNA5 CLPTM1L CR2 CSF1R CXCR4 CYP2E1 DDR2 EFNB2 ERBB3 EZH2 FGFR4 FLT1 FOSL2 FUBP1 GPX1 GRIN2A KDM3A KDR KMT2C MAP2K4 MAPK14 MST1R MUC5B PPIA RAC1 SNRPD1 SNRPE SPEN SRC STAT3 TERT TET2 TNFAIP3 TP53 VEGFA XRCC1	1138 1380 1432 1436 1571 1948 2065 2146 2264 23013 2321 2355 2876 2903 3791 4486 472 4921 545 5478 54790 55818 58508 5879 6416 6632 6635 6714 672 6774 7015 7128 7157 727897 7422 7515 7852 81037 811 8289 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ABL1 ADAM10 ADAM28 ADGRB1 ADM AFF4 AKT1 AKT2 ALX4 ANTXR1 APC2 APC APOC3 ARID1A ARID2 ATF7 ATM AZGP1 BAMBI BAX BCOR BIRC2 BRCA1 BRCA2 BTK BUB1B CALR CASP9 CBL CDC73 CES1 CHD4 CHEK2 CTNNB1 CTNNBL1 CXCR4 CYP24A1 CYP2E1 DCC DDR1 DDR2 DDX3X DICER1 DLC1 DPYD DSN1 EEF1E1 EEF2 EGFR EIF5A EP300 ERBB4 ERCC6 EZH2 F7 FASN FAT1 FGFR3 FGR FLCN FOSL2 FOXA1 GAD1 GALNT12 GCLC GLI1 GPX1 GPX2 GRIN2A GRP HCK HDAC1 HDAC3 HDAC7 HFE HIF1A HILPDA HK1 HLA-DQB1 HNF1A HNRNPK HNRNPU HRAS HSPA8 IKZF1 IL6 IRS4 ITPKC JAK1 KDM3B KDM6A KDR KIF18A KRAS L1CAM LATS2 LIF LOX LRP1B MAP2K4 MAP4K4 MAPK9 MKI67 MLH1 MMP2 MMP9 MSH2 MYD88 NFE2L2 NOTCH1 NOTCH2 NOTCH3 NRAS NTRK3 NUF2 OSBP PBRM1 PDGFRL PIK3CA PIK3CB PIK3CD PLA2G2A PLCG1 POLD1 POLE PRDM1 PRDX2 PTEN PTPN12 PTPN13 PTPRJ PTPRT RAB1A RAC1 RAMP2 RAMP3 RBM10 RHOA RICTOR RNF43 SEPTIN9 SERPINA1 SERPINF1 SETD2 SHH SLC7A5 SMARCC1 SMC2 SMO SNAI1 SPOP SRC STAT3 STIM1 TBX3 TCF3 TET2 TGFB1 TGFB2 TGFB3 TGFBR1 THBS1 TLR2 TNFAIP3 TP53 TTR VEGFA XIAP XPO1 XPO5 XRCC1 YAP1 YTHDF1 ZFHX3	102 10266 10268 10297 10320 10395 10413 10592 1066 10801 10863 11016 1108 11122 11200 133 1499 1571 1591 1630 1654 1806 1938 1956 196528 1984 201163 2033 2066 207 2074 208 2146 2155 2194 2195 2261 2268 23405 2355 25 253260 2571 25805 26524 27125 2729 2735 2876 2877 2903 29072 2922 29923 3055 3065 3077 3091 3098 3119 3169 3190 3192 324 3265 329 331 3312 345 3569 3716 3791 3845 387 3897 3976 4015 4288 4292 4313 4318 4436 4615 463 472 4780 4851 4853 4854 4893 4916 4921 5007 51564 5157 5176 51780 5265 5290 5291 5293 5320 5335 53353 5424 5426 54790 54880 54894 54915 55193 5601 56259 563 5728 575 57510 5782 5783 5795 581 5861 5879 60529 639 6416 6469 6599 6608 6615 6714 672 675 6774 6786 6926 6927 6929 695 7001 701 7040 7042 7043 7046 7057 7097 7128 7157 7276 7403 7422 7514 7515 780 7852 79577 79695 79980 80271 811 8140 81930 8241 8289 83540 8405 84168 842 8471 867 8841 9448 9521	Homo sapiens (human)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	BACE2 CHMP2B EWSR1 FUS GRN LRRK2 MAPT NEFL TARDBP TREM2 UBQLN1 UBQLN2 UBQLN4 VCP	120892 2130 23435 2521 25825 25978 2896 29978 29979 4137 4747 54209 56893 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	BAG6 CSF1R KIT SDHA SDHB SDHC SETD2 SHH SLCO1B3 STIM1 TERT	1436 28234 29072 3815 6389 6390 6391 6469 6786 7015 7917	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH18A1 CTH ECHS1 GCSH GLUL HIBADH HIBCH HMGCL HMGCLL1 KMO MAT2A PCCA PCCB PHGDH SHMT1 SHMT2 TARS1 TARS2 TARS3	11112 123283 1491 1892 26227 26275 2653 2752 3155 4144 5095 5096 54511 5832 6470 6472 6897 80222 8564	Homo sapiens (human)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	GLI3	2737	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:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	JAG1 NOTCH2	182 4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:9240	erythromelalgia Aliases: erythermalgia	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	NOS3 TACR1	4846 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3GAT2 BMP4 CTHRC1 FAS FOXP1 GPX3 GPX7 IGFBP3 MKI67 MMP12 MMP1 MSR1 MUC2 PTGES PTGS2 SMO	115908 135152 27086 2878 2882 3486 355 4288 4312 4321 4481 4583 5743 652 6608 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CD40 CD40LG RIPK1	847 8737 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9182	pemphigus	CAST CAT CD36 CD40 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2 MBL2	3117 3119 3123 3558 4153 831 847 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	WASL	8976	Homo sapiens (human)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AAAS HLA-DQA1 HLA-DQB1 LMNA NOS1 SPRY2 VIPR1	10253 3117 3119 4000 4842 7433 8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB COL1A1 H2AX HSPA4 IL10 KMT5C MAP2K3 MET TUT4	1277 229 23318 3014 3308 3586 4233 5606 84787	Homo sapiens (human)	Alliance of Genome Resources
DOID:9159	gas gangrene Aliases: Gas bacillus infection	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	LTA TNF	4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	CCR3 CD163 CSF2 HLA-DQA1 IL10 IL2RB LTA MBL2 NFE2L2 SLC11A1 TNF	1232 1437 3117 3560 3586 4049 4153 4780 6556 7124 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:9120	amyloidosis Aliases: amyloid disease	ADIPOQ APCS CSF1 GOT1 SERPINE1 TNF TNFRSF1A TREM1 TTR	1435 2805 325 5054 54210 7124 7132 7276 9370	Homo sapiens (human)	Alliance of Genome Resources

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