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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 **9976 - 10000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080075	Neu-Laxova syndrome 2	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060916	proteasome-associated autoinflammatory syndrome 3 Aliases: PRAAS3	PSMB4	5692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112137	combined oxidative phosphorylation deficiency 51 Aliases: COXPD51	PTCD3	55037	Homo sapiens (human)	Alliance of Genome Resources
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070365	nevoid basal cell carcinoma syndrome 1 Aliases: basal cell nevus syndrome 1	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111579	asthma, nasal polyps, and aspirin intolerance Aliases: ASA triad	PTGER2	5732	Homo sapiens (human)	Alliance of Genome Resources
DOID:11624	penile benign neoplasm Aliases: Penile tumor neoplasm of penis	PTGES TOP2A	7153 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080491	cerebral cavernous malformation 1	PTGIS	5740	Homo sapiens (human)	Alliance of Genome Resources
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	PTGS1 PTGS2	5742 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:4543	retrograde amnesia	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources

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