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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 **201 - 225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ACAN ACE2 ACE ADAM17 ADIPOQ ADM ADRA2C ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 ALB ALOX12 ALOX15 AOC3 APOA1 APOE ARRB1 BAX CALR CASQ2 CAT CBL CCL2 CCN1 CCR2 CD40LG CHEK2 CHI3L1 CHRM4 CHRNA4 CORIN CREB1 CS CXCR4 CYP11B1 CYP1A2 DDR1 DNMT1 DYRK1A ECE1 EDN1 ENG EP300 EPO ERBB2 ERBB4 EYA4 EZH2 FADS1 FADS2 FAS FASLG FOS FOXC1 FOXO1 FOXP1 FOXP4 FTH1 FTO GNB1 GP6 GRK1 GRK3 GRP HIF1A HMGB1 HP HPR HSF1 HTR2A HTR2B IL10 IL17A IL6 IL6R INHBA KCNE1 KCNK2 LEPR LGALS3 LIF LTBP2 MAS1 MDH2 MED1 MME MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MSTN MTOR MYH7 NCAM1 NFE2L2 NGFR NME2 NOS1 NOS3 NPPA NPPB NPTXR NR3C1 OGT OPA1 OPRK1 P2RX4 PARP1 PGF PHF6 PLA2G7 PLCD1 PLD2 POSTN PPARGC1A PPP1CC PRKCA PTGIS RAC1 RAMP2 RAPGEF3 RBM10 RBP4 REN RRAD RYR1 RYR2 SCN5A SCN8A SELP SIRT3 SLC22A5 SLC2A4 SLC6A4 SLC8A1 SLC9A1 SMC1A SOD2 SOX2 SRA1 SRF TIMP1 TNF TNFRSF11B TNFRSF1B TREM1 UCP2 UCP3 YY1	10011 10266 10411 10631 10699 10891 1116 11200 1132 1137 116113 133 1385 142 1431 152 153 154 1544 155 157 1584 1636 176 177 1786 183 185 1859 186 1889 1906 2022 2033 2056 2064 2066 2070 213 2146 2296 2308 23410 23467 2353 239 246 2475 2495 2660 27086 2782 2908 2922 3091 3146 3240 3250 3297 335 3356 3357 348 3491 355 356 3569 3570 3586 3605 3624 3753 3776 3953 3958 3976 3992 4053 408 4142 4191 4311 4312 4313 4314 4317 4318 4322 4323 4625 4684 4780 4804 4831 4842 4846 4878 4879 4976 4982 4986 5025 51206 5228 5333 5338 54210 5469 5501 5578 5740 581 5879 59272 5950 5972 6011 6236 6261 6262 6331 6334 6347 6403 6517 6532 6546 6548 6584 6648 6657 6722 6868 7076 7124 7133 729230 7351 7352 7528 780 7852 79068 7941 811 8241 8243 84295 845 847 8473 8639 867 9370 9415 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080581	hyperekplexia 4	ATAD1	84896	Homo sapiens (human)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE2 ACE ADAM8 ADAM9 ALB ANXA2 ANXA5 BMI1 CALR CCKAR CCKBR CD40 DNMT1 EGF FASLG FSCN1 HDAC1 HEATR1 IGF1R IL4 IL4R INS KDM2B KRT7 L1CAM MCM7 MDM2 MET MGMT MMP2 MMP9 MSLN MUC1 MUC3A MUC4 MUC5AC MUC5B NME1 NTRK3 PALLD PMS1 PPARG RNF2 SERPINA1 SMAD4 SMO TGFB1 TGFBR2 THBS1 TMPRSS3 TSC2 TYMP	101 10232 1636 1786 1890 1950 213 23022 302 3065 308 3480 356 3565 3566 3630 3855 3897 4089 4176 4193 4233 4255 4313 4318 4582 4584 4585 4586 4830 4916 5265 5378 5468 55127 59272 6045 64699 648 6608 6624 7040 7048 7057 7249 727897 811 84678 8754 886 887 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 ALAS1 EPO GBE1 IREB2	2056 211 2632 3658 48	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q Aliases: LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	GNAI1 GNAI2 GNAI3 GNAT3 IGFBP3	2770 2771 2773 346562 3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:8437	intestinal obstruction	HFE IL10 PTGS2	3077 3586 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	DCTN1 KIF1B LRRK2	120892 1639 23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:439	neuromuscular junction disease	IDH3A SYT1 SYT2	127833 3419 6857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Aliases: SIFD	TRNT1	51095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ADRB1 APOB BAMBI EGR1 ELN ENO3 LGALS3 MMP1 NFATC1 NPPC OGT SP7 TNF TNFRSF11B	121340 153 1958 2006 2027 25805 338 3958 4312 4772 4880 4982 7124 8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ELN	2006	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	UQCC3	790955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	MFSD8	256471	Homo sapiens (human)	Alliance of Genome Resources
DOID:2972	renal artery obstruction	APOC3 CD40 SOD1	345 6647 958	Homo sapiens (human)	Alliance of Genome Resources

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