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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 **7826 - 7850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:640	encephalomyelitis Aliases: Encephalitis &/or myelitis	B2M SPP1	567 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	THPO	7066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050634	alopecia universalis Aliases: ALOPECIA UNIVERSALIS CONGENITA	IL4	3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	POLE TSC1	5426 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	CCL5 MBL2	4153 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110017	age related macular degeneration 4 Aliases: ARMD4	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	REEP4	80346	Homo sapiens (human)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	GRK1 NYX RDH5 RHO RLBP1	5959 6010 6011 6017 60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ADAMTS13 CD36 HLA-DQB1 PROC TFPI	11093 3119 5624 7035 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	ANGPT1 ANGPT2 ARID1A CD55 FOXO3 GPX3 KRAS PTGES TGFBR3 TP53	1604 2309 284 285 2878 3845 7049 7157 8289 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	CHM CHML	1121 1122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111166	molybdenum cofactor deficiency type C Aliases: MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C	GPHN	10243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050554	X-linked sideroblastic anemia with ataxia Aliases: Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia	ABCB7	22	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112338	spermatogenic failure 57 Aliases: SPGF57	PNLDC1	154197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	23065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F Aliases: LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency	SGCD	6444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	MBTPS1	8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	IL2RG	3561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:2975	cystic kidney disease Aliases: renal Cyst	BICC1 DNM2 EPHB4 LAMA5 ROBO1 RPGRIP1L SLIT2 TMEM67	1785 2050 23322 3911 6091 80114 91147 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110920	hereditary spherocytosis type 5 Aliases: HS5 SPH5 hereditary spherocytosis 5	EPB42	2038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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