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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 **14101 - 14125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080530	granular corneal dystrophy 1 Aliases: corneal dystrophy, Groenouw type I	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	TGFBR1	7046	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:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	Ckap2l	70466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	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:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	Mutyh	70603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	THPO	7066	Homo sapiens (human)	Alliance of Genome Resources
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	NCOA1 THRA	7067 8648	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: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:0111495	combined oxidative phosphorylation deficiency 33 Aliases: COXPD33	C1QBP	708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	P2ry12	70839	Mus musculus (house mouse)	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:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT TLR2	7097 847	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:11823	hepatorenal syndrome	TLR4 TNF	7099 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources

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