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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 **6351 - 6375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112021	non-syndromic X-linked intellectual disability ARX-related Aliases: ARX-related intellectual disability MRXARX X-linked mental retardation 29 X-linked mental retardation 29 and others X-linked mental retardation 32 X-linked mental retardation 33 X-linked mental retardation 38 X-linked mental retardation 43 X-linked mental retardation 52 X-linked mental retardation 54 X-linked mental retardation 76 X-linked mental retardation 87 X-linked mental retardation with or without seizures ARX-related	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	SPTLC1 SPTLC2 SPTLC3	10558 55304 9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	MYO15A	51168	Homo sapiens (human)	Alliance of Genome Resources
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	PRKAR1A PTEN	5573 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112217	developmental and epileptic encephalopathy 81 Aliases: DEE81 early infantile epileptic encephalopathy 81	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	MYC SMARCA4 SMARCB1	4609 6597 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:14095	boutonneuse fever Aliases: African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE2 ACE ADAMTS1 ADD1 ADIPOQ ADRB1 ADRB2 AGER AGT AGTR1 AHSG AIMP1 AKT1 ALDH2 ANGPT1 ANGPT2 ANXA5 APEX1 APOA1 APOA4 APOC3 APOE APOH AVPR1A BDKRB1 BDKRB2 BRINP3 C3 C7 C8A C8B CACYBP CAMK2D CASR CAT CCL2 CCL5 CCN2 CCR2 CCR3 CD14 CD36 CD40LG CD59 CDKN1B CFL1 CHI3L1 CIITA CLU COL1A1 COL3A1 COL4A1 COL6A3 CS CSF2 CSF3 CSNK2A1 CSNK2A3 CTLA4 CTSB CYBB CYP11B1 CYP1B1 CYP2J2 CYP2R1 DAB2 DAG1 DCN DVL1 DYRK1A ECE1 EDN1 EDN2 EDNRA EDNRB EPAS1 EPHB1 EPO EPOR ERBB2 ERBB4 ESR1 F12 F13A1 F2 F3 F5 F7 FGB FLT1 FN1 FOS FTO FZD2 G6PD GATA4 GCLC GP1BA GP6 GPX1 GSK3B GSN HADH HFE HGF HIF1A HMGB1 HP HSD11B2 HSPD1 ICAM1 IGF1R IL10 IL17A IL18BP IL4R IL6R INHBA ITGA2 ITGA3 ITGB1 ITGB3 ITIH4 KCNK2 KCNN4 KDM6A KDR KLK1 LAMP2 LCAT LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MAP3K7 MDH2 MDK MEF2C MIF MLXIPL MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MTOR MYH7 NCAM1 NFE2L2 NGF NOS2 NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 OPA1 OPRD1 OPRK1 PAPPA PCSK2 PDE5A PDGFD PEBP1 PECAM1 PGF PLA2G7 PLAT PLAU PLAUR PLCB1 PLCB3 PON1 POSTN PPARA PPARGC1A PROC PSMA6 PTGIS PTGS2 RAD50 RANBP1 RBP4 REG1A REG1B REN RPS6KB1 RYR1 SDC1 SDC4 SELP SERPINE1 SHH SIRT1 SIRT3 SMAD4 SOD1 SOD2 SOD3 SPARC SPP1 TBX3 TEK TFPI TGFB1 TGFB2 TGFBR1 TGFBR2 THBS1 TLR4 TNC TNF TNFRSF11B TNFRSF14 TNFRSF1A TNFRSF1B TNFSF11 TNFSF4 TREM1 TRPV1 TTN UTS2R VCAN VDAC2 VEGFA VEGFB VWF YBX1	10062 10068 10111 1027 10631 1072 10891 1116 118 1191 120227 1232 1277 1281 1282 1293 1431 1437 1440 1457 1462 1490 1493 1508 153 1536 154 1545 1573 1584 1601 1605 1634 1636 177 183 185 1855 1859 1889 1906 1907 1909 1910 197 2034 2047 2056 2057 2064 2066 207 2099 2147 2152 2153 2155 2161 2162 217 2244 2321 23236 2335 23410 23411 2353 2475 2535 2539 2626 27101 2729 2811 283106 2837 284 285 2876 2932 2934 3033 3077 308 3082 3084 3091 3146 3240 328 3291 3329 335 337 3371 3383 339479 345 348 3480 350 3566 3570 3586 3605 3624 3673 3675 3688 3690 3700 3776 3783 3791 3816 3920 3931 3957 4018 4023 4035 4043 4049 4089 4191 4192 4208 4261 4282 4312 4313 4314 4318 4322 4323 4625 4684 4780 4803 4843 4846 4878 4879 4881 4904 4973 4976 4982 4985 4986 5037 5054 5069 51085 51206 5126 5175 5228 5327 5328 5329 5331 54210 5444 5465 552 5624 5687 5740 5743 5902 59272 5950 5967 5968 5972 6198 623 624 6261 6347 6352 6382 6385 6403 6469 6647 6648 6649 6678 6696 6885 6926 7010 7035 7040 7042 7046 7048 7057 7099 7124 7132 7133 718 7273 7292 729230 730 731 732 7403 7417 7422 7423 7442 7450 7804 79068 7941 80310 817 846 847 8600 8654 8764 9255 929 9370 9388 948 9510 959 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080490	mucolipidosis type IV	MCOLN1 MCOLN3	55283 57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	DKC1 TP53 TYMS	1736 7157 7298	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080669	posterior polymorphous corneal dystrophy 4	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	HLA-DQB1 HLA-DRB1 HLA-DRB5 IFNG NEFL	3119 3123 3127 3458 4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	H6PD HSD11B1	3290 9563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADD3 ADIPOQ CD14 DLK1 GGT1 GLI2 ICAM1 PTEN SHH SPINT1 SPINT2 SPP1 TGFB1	10653 120 2678 2736 3383 5728 6469 6692 6696 7040 8788 929 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060693	Brunner Syndrome Aliases: monoamine oxidase A deficiency	MAOA	4128	Homo sapiens (human)	Alliance of Genome Resources

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