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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4126 - 4150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	D2045.9	3565069	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9537	Lassa fever	DAG1 SLC17A5	1605 26503	Homo sapiens (human)	DisGeNET
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1631	benign breast phyllodes tumor Aliases: Cystosarcoma phyllodes Phyllodes neoplasm benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 5728 6389 6390 79679 8821	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3016	breast malignant phyllodes tumor Aliases: Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 6389 6390 79679 8821	Homo sapiens (human)	DisGeNET
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	DCN FUCA1 GLA IDH1 IDH2 MANBA NAGA PTEN SMUG1	1634 23583 2517 2717 3417 3418 4126 4668 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	DCN ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1 TP53	1634 23583 3383 5290 5291 5293 5294 5335 5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14292	vulvar dystrophy Aliases: Dystrophy of vulva	DCN IDH1 IDH2	1634 3417 3418	Homo sapiens (human)	DisGeNET
DOID:13477	balanitis xerotica obliterans Aliases: Penile Lichen Sclerosus	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)	DisGeNET
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)	DisGeNET
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	DCN PIK3CA PIK3CB PIK3CD PIK3CG	1634 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	DCN SLC26A2	1634 1836	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)	DisGeNET
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	DDOST	1650	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	DGA1 EMI2 GLK1 HXK1 HXK2 KAR2	850317 850614 852128 852639 853418 854419	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	DGA1	854419	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	DGA1	854419	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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