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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 **11776 - 11800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	THBD	7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050950	autosomal recessive cerebellar ataxia	THG1L	54974	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:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THO2	855583	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THOC2	57187	Homo sapiens (human)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	THPO	7066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	THRA	7067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	THSD1	55901	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	TIAM1 TIAM2	26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	TIF4631 TIF4632	852833 853071	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8161	thyroid gland Hurthle cell carcinoma Aliases: oncocytic carcinoma of the thyroid	TIMM44	10469	Homo sapiens (human)	Alliance of Genome Resources
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	TIMP1 TIMP3	7076 7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	TIMP3	7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	TJP2	9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	TLL1	7092	Homo sapiens (human)	Alliance of Genome Resources
DOID:8867	molluscum contagiosum	TLR2	7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	TLR2	7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	TLR4 TLR9	54106 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	TLR4 TNF	7099 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	TLR6	10333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	TLR7	51284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Aliases: Cerebro-facio-thoracic dysplasia Cerebrofaciothoracic dysplasia Pascual-Castroviejo syndrome TMCO1 defect syndrome	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources

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