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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 **6701 - 6725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080000	muscular disease	ACACA ACACB CLU CPT2 FASN HMGCR ITGA7 LPL	1191 1376 2194 31 3156 32 3679 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	MET	4233	Homo sapiens (human)	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	CDC73 CYP2C19 CYP2C9 DDR2 ERBB2 ERBB4 FANCB FGFR4 IL2 JUNB OGG1 PTPN13 SERPINE1 STAT3 TNFRSF10A TNFRSF10B	1557 1559 2064 2066 2187 2264 3558 3726 4921 4968 5054 5783 6774 79577 8795 8797	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	IL6R	3570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111715	Schaaf-Yang syndrome Aliases: MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG	CYFIP1 MAGEL2	23191 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	FMR1 FXR1 FXR2 MMP9	2332 4318 8087 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112115	combined oxidative phosphorylation deficiency 46 Aliases: COXPD46	MRPS23	51649	Homo sapiens (human)	Alliance of Genome Resources
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ABCC1 ACE ADAM33 ADAM9 ADIPOQ ADRB1 ADRB2 AGER BAMBI BDKRB2 C3 C5 C5AR1 CAT CCL11 CCL1 CCL2 CCL5 CCL7 CCN2 CCR3 CCR5 CD28 CD40 CD80 CD86 CFTR CHI3L1 CHRM3 CHRNA3 CHRNA5 CHRNA7 CLCA1 CMA1 COL1A1 CRHR1 CSF2 CTLA4 CXCR2 CXCR3 CYP1A1 CYP1A2 CYP2E1 DEFB1 EDN1 EGFR EGR1 ELN ERBB3 F2 F2RL1 FAIM2 FAS FASLG FLT1 GC GRIK5 GRIN2B GZMA GZMB HDAC2 HHIP HLA-DPB1 HP HSPA4 HTR2A ICAM1 IL12B IL13 IL13RA1 IL16 IL17A IL18BP IL1RL1 IL1RN IL5 IL5RA IL6 IL9 KDR LEP LEPR LRP1B MAP2K4 MBL2 MCAM MMP1 MMP9 MPO MUC1 MUC5AC MUC5B NFE2L2 NOD2 NOS1 NOS2 NR3C1 NTF3 NTRK1 PLAU PLAUR PON1 PPARGC1A PTGS2 SELP SERPINA1 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SLC6A4 SMAD4 SMPD3 SOD3 STAT1 STAT4 TGFB1 TIMP1 TLR4 TNF TNFRSF1A TNFRSF1B VEGFA XRCC5	10068 1080 10891 1116 1131 1136 1138 1139 1179 12 1215 1232 1234 1277 1394 1437 1490 1493 153 154 1543 1544 1571 1636 1672 177 1906 1956 1958 2006 2065 2147 2150 23017 2321 25805 2638 2833 2901 2904 2908 3001 3002 3066 3115 3240 3308 3356 3383 355 3557 356 3567 3568 3569 3578 3579 3593 3596 3597 3603 3605 3791 3952 3953 4089 4153 4162 4312 4318 4353 4363 4582 4586 4780 4842 4843 4908 4914 5054 5265 5328 5329 53353 5444 55512 5743 624 6346 6347 6352 6354 6356 6403 64127 6416 6439 64399 6440 6441 6532 653509 6649 6772 6775 7040 7076 7099 7124 7132 7133 718 727 727897 728 7422 7520 80332 847 8754 9173 9370 940 941 942 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	ERLIN2	11160	Homo sapiens (human)	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ABCB1 ABCC2 ABCC8 ABCG2 ACAN ADAM10 ADAM9 ANK3 APEX1 APOD AQP1 AQP4 ATM BAX BDNF CASP6 CCL2 CCR5 CFL1 CKMT1A CKMT1B CNR1 CX3CL1 CYP11A1 DAB1 DMD DPYSL2 GABRB3 GHSR GRIA1 GRIA2 GRIK1 GRIN1 GRIN2A GRN GSK3B H2AX HCN1 HRH3 HSD11B1 HSPA1A IDH2 IL6ST KCNC4 KCNJ11 KCNK3 MEF2C MMP9 MTOR NLGN1 NLGN2 NR3C1 NT5E NTF3 OGG1 OLIG2 PGF PLAT PLAU PLAUR PTGS2 PTPRZ1 RELA RELN SLC6A8 SLC8A1 SLC8A2 SLC8A3 SOCS3 SOD2 SRC SSTR4 TFAM TNF XRN2	102 10215 1072 11255 1159 1234 1244 1268 1583 1600 1756 176 18 1808 22803 22871 2475 2562 2693 288 2890 2891 2896 2897 2902 2903 2908 2932 3014 328 3290 3303 3418 347 348980 3572 358 361 3749 3767 3777 4208 4318 472 4907 4908 4968 5228 5243 5327 5328 5329 548596 5649 5743 57555 5803 581 5970 627 6347 6376 6535 6543 6546 6547 6648 6714 6754 6833 7019 7124 839 8754 9021 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	AGER ASS1 ATRX BMP4 BRCA2 BRD2 BRD4 CAT CD40 CHI3L1 CTLA4 EHMT2 ELN ERCC5 ESR1 FAS FASLG FLT1 GALC GGT1 GPER1 HLA-DQA1 ICAM1 IL1RN ING3 JUNB KDM2A KDR KIT LRP1B LTA MC1R MGMT MITF NFKB1 NRAS NUF2 PPARGC1A RHOB RNASET2 SETDB1 SOD2 SOX2 SPP1 TERT TLR4 TP53 TYR VEGFA	10891 10919 1116 1493 177 2006 2073 2099 22992 2321 23476 2581 2678 2852 3117 3383 355 3557 356 3726 3791 3815 388 4049 4157 4255 4286 445 4790 4893 53353 54556 546 6046 652 6648 6657 6696 675 7015 7099 7157 7299 7422 83540 847 8635 958 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	JPH1	56704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080586	Van Maldergem syndrome 2	FAT4	79633	Homo sapiens (human)	Alliance of Genome Resources

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