GlyCosmos Portal

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

Displaying entries **4776 - 4800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	PTPN11 PTPN6	5777 5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	PPP1R15A TNF	23645 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	FAT2	2196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	CASZ1 KCNAB2	54897 8514	Homo sapiens (human)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ABO ADAMTS13 CAST CYP2C19 FCGR2A G6PD HLA-DQB1 HP IL13 MBL2 TNF	11093 1557 2212 2539 28 3119 3240 3596 4153 7124 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070409	autosomal recessive spinocerebellar ataxia 28 Aliases: SCAR28	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:12897	submandibular gland disease	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ACVR2A ACVR2B BMP2 BMP4 BMP6 BMP7 FBN1 MATN3 MMP12 MMP14 MMP2 TGFBR2	2200 4148 4313 4321 4323 650 652 654 655 7048 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	ACSS2 CPT1A ESR1 GAPDH GLS MMP9 NOS3 RICTOR SRF STAT1 STAT3 TSC1 TSC2	1374 2099 253260 2597 2744 4318 4846 55902 6722 6772 6774 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	SLC29A1	2030	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	SGCD SGCG SGCZ	137868 6444 6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	ACTB ACTC1	60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	CCN1 NTF3	3491 4908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:13141	uveitis	ACE ANXA1 AOC3 AQP1 AQP4 ASS1 CCL2 CCL5 CCR5 CD163 CX3CL1 GC HLA-A HLA-B HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DQB2 HLA-DRB1 HSPA1L ICAM1 ICOS IFNG IFNGR1 IL10 IL13 IL17A IL1A IL23R IL2 IL6 IL6R LCN2 NR3C1 RELA SERPINA3 SERPINF1 SNCB TGFB1 TJP1 TLR4 TNF TNFRSF1A	12 1234 149233 1636 2638 2908 29851 301 3105 3106 3117 3118 3119 3120 3123 3305 3383 3458 3459 3552 3558 3569 3570 358 3586 3596 3605 361 3934 445 5176 5970 6347 6352 6376 6620 7040 7082 7099 7124 7132 8639 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112001	immunodeficiency 50 Aliases: CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive	MSN	4478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	TSPAN7	7102	Homo sapiens (human)	Alliance of Genome Resources

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