GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9401 - 9425** of **15957** in total

« First

‹ Prev

…

373

374

375

376

377

378

379

380

381

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050775	schneckenbecken dysplasia	SLC35D1	23169	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050660	Beare-Stevenson cutis gyrata syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ADD1 ALPL APOA2 APOB APOC3 APOE LIPC LPL SERPINE1 THBD VWF	118 249 336 338 345 348 3990 4023 5054 7056 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	TGFBR1	7046	Homo sapiens (human)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081366	Paget's disease of bone 3 Aliases: Paget disease of bone-3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U Aliases: CMT2U Charcot-Marie-Tooth neuropathy type 2U autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U	MARS1	4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ABCB1 AKT1 ANGPT1 ANXA7 APC APEX1 APOB BARD1 BRCA1 BRCA2 CALR CBS CCN2 CD59 CD82 CD9 CDH13 CDH1 CHI3L1 COMT CRKL CTNNB1 CYP19A1 DDR1 EEF1A2 EFEMP2 EGF ERBB2 ESR1 F2 F7 FAS FGF7 HDAC3 HFE HIF1A ICAM1 IL10 ITGA8 JAK1 JUP KLK10 KLK4 KLK6 LEF1 MBL2 MET MMP1 MMP8 MRE11 MSH6 MSLN MUC16 MYO6 NASP NBN NME1 NME2 NOD2 NOS3 NRG1 OGG1 OPCML PEBP1 PECAM1 PIK3CA POLE PRKCA PRSS8 PTEN PTGS1 RUNX3 SERPINC1 SFN SHMT1 SLCO1B3 SMAD4 SOD2 SPINT1 STAT3 TBX3 TFF1 TFRC TIMP1 TNF TNFRSF1A TNFRSF1B TYMP UGT1A1 UTRN VEGFC YAP1	1012 10232 10413 1116 1312 1399 1490 1499 1588 1890 1917 1950 2064 207 2099 2147 2155 2252 2810 28234 284 2956 30008 3077 3084 3091 310 324 328 338 3383 355 3586 3716 3728 3732 4089 4153 4233 4312 4317 4361 462 4646 4678 4683 4830 4831 4846 4968 4978 5037 51176 5175 5243 5290 5426 54658 5578 5652 5653 5655 5728 5742 580 64127 6470 6648 6692 672 675 6774 6926 7031 7037 7076 7124 7132 7133 7402 7424 780 811 8516 864 875 8841 928 94025 9622 966 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112312	male infertility due to globozoospermia Aliases: globozoospermia syndrome	HSP90B1	7184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	ABCB4 CFTR DNASE1 GNRHR HLA-DQB1 KRT18 TNF VEGFA	1080 1773 2798 3119 3875 5244 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:12558	chronic progressive external ophthalmoplegia Aliases: progressive external ophthalmoplegia	RRM1	6240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112019	non-syndromic X-linked intellectual disability 19 Aliases: MRX19 X-linked mental retardation 19	RPS6KA3	6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080526	bronchiectasis 1	CFTR SCNN1B	1080 6338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060278	pontocerebellar hypoplasia type 9	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	ABCC3 ABCG2 ABL1 ACSL6 ASXL1 BMI1 BRD7 CALR CBL CCL2 CD86 CDH1 CDKN1B CFHR1 CHI3L1 CREBBP CSF2 CSF3 CSF3R CTLA4 CXCR4 CYP1A1 CYP2B6 DNMT1 EZH2 F3 FADD FAS FGFR1 FLT3 GATA2 GPI GPX1 HLA-DQB1 IDH1 IDH2 IL10 IL1A IL6 ITGAV ITGB3 KAT6A KIT KMT2A KRAS LPP MDM2 MEFV MLLT10 MYBL2 NCOA2 NF1 NOS3 NPM1 NRAS NSD1 NUP214 NUP98 PHF6 PICALM PLCB1 RUNX1 SAMHD1 SF3B1 SH3GL1 SOD2 SRSF4 TERT TET2 TFPI2 TFR2 TOP2A TOP2B TP53 TYMS VEGFA ZRSR2	1027 10499 1116 1387 1437 1440 1441 1493 1543 1555 171023 1786 2146 2152 2260 2322 23236 23305 23451 25 25939 2624 2821 2876 29117 3078 3119 3417 3418 355 3552 3569 3586 3685 3690 3815 3845 4026 4193 4210 4297 4605 4763 4846 4869 4893 4928 54790 6347 6429 64324 6455 648 6648 7015 7036 7153 7155 7157 7298 7422 7852 7980 7994 8021 8028 811 8233 8301 84295 861 867 8714 8772 942 9429 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	CPT1A	1374	Homo sapiens (human)	Alliance of Genome Resources
DOID:7427	anthrax disease	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081218	autosomal recessive intellectual developmental disorder 74	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070456	hereditary spastic paraplegia 87 Aliases: SPG87 autosomal recessive spastic paraplegia 87	TMEM63C	57156	Homo sapiens (human)	Alliance of Genome Resources
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	APC EFEMP1 NCAM1	2202 324 4684	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements