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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 **5801 - 5825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:115	cardiac tamponade Aliases: Rose's tamponade pericardial tamponade	PCYT1A SMUG1 SOAT1	23583 5130 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources
DOID:963	episodic ataxia Aliases: Isaacs syndrome	PDHA1 PIGP PIGQ	51227 5160 9091	Homo sapiens (human)	DisGeNET
DOID:0070188	spermatogenic failure 1 Aliases: SPGF1 oligochiasmatic infertility oligosynaptic infertility	PDHA2	5161	Homo sapiens (human)	DisGeNET
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6214	ovarian papillary neoplasm Aliases: Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:6067	ovarian mucinous neoplasm Aliases: Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:0050967	spinocerebellar ataxia type 17	PDIA3	2923	Homo sapiens (human)	DisGeNET
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	PFK1 PFK2	853155 855245	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)	DisGeNET
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)	DisGeNET
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	PGAP1	31487	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	33258	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	35570	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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