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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 **7101 - 7125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110009	achromatopsia 7 Aliases: ACHM7	ATF6	22926	Homo sapiens (human)	Alliance of Genome Resources
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CAST CFL1 CHUK COL1A2 CRHR2 CTSL CTSV DAG1 DMD GHR HSF1 HSP90AB1 IKBKB KRAS MSTN MTMR4 MTOR NEDD4 NR3C1 RELB RPS6KB1 SERPINE1 SGCA TFRC TGIF1 TIMM23 TRIM63	100287932 1072 1147 1278 1395 1514 1515 1605 1756 2475 2660 2690 2908 3297 3326 3551 3845 4734 5054 5971 6198 6442 7037 7050 831 84676 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	SLC13A5	284111	Homo sapiens (human)	Alliance of Genome Resources
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	BCAR1 BSG CD44 RICTOR SLCO1B3 TNFRSF10A XIAP	253260 28234 331 682 8797 9564 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:13576	twin-to-twin transfusion syndrome Aliases: Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:1240	leukemia	ABO ACE ACSL6 AKR1C3 ALB ASH1L ATM BCR CD28 DAXX DOT1L FADD GPX1 HRAS IRF4 KRAS MEIS1 NRAS PDGFRA PTPN11 PTPN6 TFPI TP53	1616 1636 213 23305 28 2876 3265 3662 3845 4211 472 4893 5156 55870 5777 5781 613 7035 7157 84444 8644 8772 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081297	oculopharyngodistal myopathy 1	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:4440	seminoma Aliases: Seminoma, Pure	CHEK2 FAS FASLG HRAS INHA INSR JUP KCNE1 KCNQ1 KIT KRAS PCNA PDGFRA PDPN PLAAT3 POU5F1 PRMT5 RB1 SMAD4 TYMP VEGFA XRCC1	10419 10630 11145 11200 1890 3265 355 356 3623 3643 3728 3753 3784 3815 3845 4089 5111 5156 5460 5925 7422 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080684	diffuse midline glioma, H3 K27M-mutant Aliases: diffuse intrinsic pontine glioma	H3-3A H3-3B	3020 3021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070011	Seckel syndrome 7 Aliases: SCKL7	NIN	51199	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050750	splenic marginal zone lymphoma	CD79B	974	Homo sapiens (human)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	AGER CD209 CLEC1A CLEC7A IL15 TLR1 TLR6	10333 177 30835 3600 51267 64581 7096	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:3905	lung carcinoma Aliases: cancer of lung	ACE APOE CHRNA3 CRKL CTNNA1 CTNNB1 CYP24A1 DNMT1 FOXA1 MDC1 MLH1 MUC4 SOX9 STRAP	11171 1136 1399 1495 1499 1591 1636 1786 3169 348 4292 4585 6662 9656	Homo sapiens (human)	Alliance of Genome Resources
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:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	AKT1 FOXO4 NOS2	207 4303 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	A2M ABO FCGR2A G6PD GCLC HP PGK1 RHAG	2 2212 2539 2729 28 3240 5230 6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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