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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 **8951 - 8975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	C3 C5 CFB CFP F2 F8 FCGR2A HLA-DQA1 IFNG IL10 PLAT TFPI TGFB1	2147 2157 2212 3117 3458 3586 5199 5327 629 7035 7040 718 727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:9402	epididymitis	IL6 TNF	3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	FCGR3A HGF HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-E HLA-F HLA-G IL1RN TNF	2214 3082 3105 3106 3107 3117 3119 3123 3133 3134 3135 3557 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ADAMTS19 ADCY2 CDC34 CHD6 CHD7 CHD8 CHD9 CMA1 CRIPTO DNMT1 FOXP1 GATA4 GDF1 GPX3 HCFC1 HCFC2 ITPR1 JAG1 JPT1 KMT2A KMT2B KMT2C KMT2D LEFTY2 LRP2 MYBPC1 MYBPC2 MYBPC3 MYH7 NAA15 NAA16 NFATC1 NOTCH1 PLCB2 RFC1 RNF20 RNF40 RPS24 SAP130 SMYD4 SON SP4 TAB2 TLL1 UBE2R2 USP17L3 USP42 VEGFA WDR5	108 11091 114826 1215 171019 1786 182 23118 2626 2657 27086 2878 29915 3054 3708 4036 4297 4604 4606 4607 4625 4772 4851 51155 5330 54926 55636 56254 57680 58508 5981 6229 645836 6651 6671 6997 7044 7092 7422 79595 79612 80155 80205 8085 84132 84181 9757 9810 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080799	sinonasal undifferentiated carcinoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	IL15 IL1RN	3557 3600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	TUBB	203068	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	A2M ACE ADORA1 AGER ANXA1 APOA5 APOB APOE BRINP3 CBS EPHX2 F2 F5 F7 FOLH1 GPX3 GRIN1 GSN HIF1A HLA-A HLA-B HLA-DRB1 HMGB1 HNF1A ICAM1 IFNB1 ITGA9 ITGAM KALRN KCNN4 LIPG LPA LTA MAP2 MTR MYRF NR1H3 PARK7 PDX1 PLA2G7 PON1 PON2 PRKCH PROS1 PTGIS RBP4 SERPINE1 SERPING1 SLC6A1 SOS1 TBXAS1 THBD TNF TNFRSF11B TOMM40 TYMS VIM	10062 10452 11315 116519 134 1636 177 2 2053 2147 2153 2155 2346 2878 2902 2934 301 3091 3105 3106 3123 3146 338 3383 339479 3456 348 3651 3680 3684 3783 4018 4049 4133 4548 4982 5054 5444 5445 5583 5627 5740 5950 6529 6654 6916 6927 7056 710 7124 7298 7431 745 7941 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080528	bronchiectasis 3	SCNN1G	6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	MFRP PRPH2 RDH5 RHO RLBP1	5959 5961 6010 6017 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050449	pachyonychia congenita Aliases: Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	CLMP INSR LEP LEPR	3643 3952 3953 79827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12399	pathological gambling Aliases: Compulsive gambling	COMT DRD4 HTR2A	1312 1815 3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	ACTA2 GJC2 PGF	5228 57165 59	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	TANC1 TANC2	26115 85461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050168	autoimmune polyendocrine syndrome type 2 Aliases: Schmidt syndrome	HLA-DQA1 HLA-DQB1 HLA-DRB1	3117 3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111731	familial episodic pain syndrome 3 Aliases: FEPS3	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources

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