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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3876 - 3900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:9499	disseminated eosinophilic collagen disease	ETNK1	55500	Homo sapiens (human)
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	Pcna	25737	Rattus norvegicus (Norway rat)
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	Akt1	24185	Rattus norvegicus (Norway rat)
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	ACADVL ACE CAT CYP21A2 HADHA MAN1B1 OTOA SERPINA12 UGGT1	11253 145264 146183 1589 1636 3030 37 56886 847	Homo sapiens (human)
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	C14B9.8	176149	Caenorhabditis elegans
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	Kl	83504	Rattus norvegicus (Norway rat)
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2747	glycogen storage disease Aliases: glycogenosis	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PFKP PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKG2 PRKAG2 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 51422 5211 5213 5214 5224 5230 5236 5255 5256 5261 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	ACO2 FH	2271 50	Homo sapiens (human)
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	IL18R1 TNF	7124 8809	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	Comt Ext1 Htr2a Ndst1 Ndst2 Ndst3 Ndst4	114002 24267 295430 29595 29633 299907 362035	Rattus norvegicus (Norway rat)
DOID:533	thymus gland disease Aliases: disease of thymus gland	ACSM3 CYP17A1 CYP19A1 GAS1 GPC1 L1CAM SMPD3	1586 1588 2619 2817 3897 55512 6296	Homo sapiens (human)
DOID:219	colon cancer	hs3st2	571246	Danio rerio (zebrafish)
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	rt	39297	Drosophila melanogaster (fruit fly)
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SULT1E1	130749 1312 2629 27163 3340 410 6783 8398 9993	Homo sapiens (human)
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ACACA ACE ACLY ADIPOQ AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B INS KCNJ11 KL LEP LEPR LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RBP4 RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3630 3767 3952 3953 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5950 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9370 9563	Homo sapiens (human)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	Calr FucTB Parp1	3355109 34260 41166	Drosophila melanogaster (fruit fly)
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)

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