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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 **4626 - 4649** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080376	trichorhinophalangeal syndrome type III Aliases: trichorhinophalangeal syndrome type 3	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ABCC2 ADRB2 ALB ALOX5 ANXA2 APC APOA1 ASPH EPO EPOR EZH2 FASLG FSCN1 GNAS HDAC6 HGF IL1R2 IL4R IL6 INS KIT KRT7 MDM2 MET MFSD4A MGMT MKI67 MMP2 MMP9 MUC16 MUC1 MUC2 MUC3A MUC4 MUC5AC MUC5B MUC6 NCAM1 NOS2 NOTCH1 OGG1 OSBP2 OSBPL7 PANX2 PAWR PPIA PPP3CA PREX2 PRSS2 PRSS56 PTGS2 REG1A RNF43 RUNX3 SLC4A4 SLC7A5 SOCS3 SOX2 TGFB1 TGFBR2 THBS1 TNC TNFAIP3 TTR UGT1A9 WDHD1 WNT9A	10013 11169 114881 1244 148808 154 2056 2057 213 2146 23762 240 2778 302 3082 324 335 3371 356 3566 3569 3630 3815 3855 4193 4233 4255 4288 4313 4318 444 4582 4583 4584 4585 4586 4588 4684 4843 4851 4968 5074 54600 5478 54894 5530 5645 56666 5743 5967 646960 6624 6657 7040 7048 7057 7128 7276 727897 7483 7850 80243 8140 864 8671 9021 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	RAPGEF2	9693	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	ADD1 ADIPOQ AGER AGT APOA1 APOE CASR CD36 CD40 CD40LG CLU COL4A2 CPE CSF1 F2 FAS FCGR2A GPX3 GRN HMGB1 HNRNPC HP HPR HSPA1A ITGAM LDLR LPA MMP1 MMP2 NGF NGFR NONO NOS3 NPPB NR1H3 PARP15 PDGFD PECAM1 PLA2G7 PLAU PLTP PON1 PON3 PTGES3 PTGIS RBP4 SELP SIRT1 STAT3 STAU1 UBR1 VIM WIZ	10062 10728 118 1191 1284 1363 1435 165631 177 183 197131 2147 2212 23411 2878 2896 3146 3183 3240 3250 3303 335 348 355 3684 3949 4018 4312 4313 4803 4804 4841 4846 4879 5175 5328 5360 5444 5446 5740 58525 5950 6403 6774 6780 7431 7941 80310 846 9370 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	PPARG	5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	AURKB HES1 L3MBTL1 L3MBTL4 LLGL1 LLGL2 MYC NOTCH1 NOTCH2 NOTCH3 NUMBL TERT VPS26A	26013 3280 3993 3996 4609 4851 4853 4854 7015 91133 9212 9253 9559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110896	inflammatory bowel disease 16 Aliases: IBD16	TNFSF15	9966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE ADRB2 CHRM1 CXCR3 FAS HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2RB MUSK	1128 154 2833 3117 3119 3123 355 3560 43 4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	IGF2	3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	BMP4 FOXC1	2296 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	EPHB4 LGMN	2050 5641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	FGFR1 GNRHR NSMF	2260 26012 2798	Homo sapiens (human)	Alliance of Genome Resources
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	Homo sapiens (human)	Alliance of Genome Resources
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources

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