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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 **8551 - 8575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	CHAMP1	283489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	TCTN2	79867	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:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	ZFHX2	85446	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ACE2 ACE ACTB ADGRL4 ADM AGT AHR CACNB2 CD36 CMA1 CS CTSL CYP1A1 CYP1B1 CYP2E1 DNMT1 DSP EDN1 EPHX2 FHL1 HRAS HTR2B ICAM1 IGF1R KRAS LAMP2 MAP3K7 MMP1 MMP2 MMP9 MYBPC3 MYH7 NPPA NPPB NRAS ORAI1 ORAI3 PKD1 PTPN11 SDHD SLC25A6 STIM1 STIM2 TNNI3 VCL XIRP1	1215 133 1431 1514 1543 1545 1571 1636 165904 1786 183 1832 1906 196 2053 2273 293 3265 3357 3383 3480 3845 3920 4312 4313 4318 4607 4625 4878 4879 4893 5310 57620 5781 59272 60 6392 64123 6786 6885 7137 7414 783 84876 93129 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	AKAP12 BRCA2 CBL CDC5L CHEK2 CXCR4 DDR1 E2F1 EFEMP2 EGR1 EZH2 HSD17B10 IL3 MSH2 MSH6 PTPRB RB1 SERPINF1 TP53	11200 1869 1958 2146 2956 30008 3028 3562 4436 5176 5787 5925 675 7157 780 7852 867 9590 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	CIC GNPAT SNRNP70 STX1A	23152 6625 6804 8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080438	developmental and epileptic encephalopathy 5 Aliases: DEE5 early infantile epileptic encephalopathy 5	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081150	common variable immunodeficiency 7	CR2	1380	Homo sapiens (human)	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	BAP1 BRCA2 GRM1 HLA-B KDM5B KDR MBD4 MCAM SERPINE1 VEGFA	10765 2911 3106 3791 4162 5054 675 7422 8314 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:10533	viral pneumonia	CCL11 TLR9	54106 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110899	inflammatory bowel disease 28 Aliases: IBD28 early onset autosomal recessive inflammatory bowel disease 28	IL10RA	3587	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:0080754	X-linked keratosis follicularis spinulosa decalvans	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080634	nanophthalmos	MFRP MYRF	745 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	KRT5 POFUT1 POGLUT1	23509 3852 56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ACE AGTR1 AGTR2 APOE COL3A1 HBEGF INF2 MMP1 MMP9 PLA2G7 PLEKHA7 PPARG SERPINE1 SHC1 SPP1	1281 144100 1636 1839 185 186 348 4312 4318 5054 5468 64423 6464 6696 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 COL6A3	1291 1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111122	nephronophthisis 14 Aliases: NPHP14	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources

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