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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 **9376 - 9400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	GIT1	850462	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	GIT1	850462	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	GIT1	850462	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	GIT1 STE6	850462 853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	GIT1 RNY1	850462 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	GIT1 RNY1	850462 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	GIT1 PMT4	850462 853608	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	GIT1 MEP2	850462 855580	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	GIT1 IDP1 IDP2 IDP3	850462 850871 851493 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3021	acute kidney failure	GIT1 GLR1 GPX1 GPX2 PEP4	850462 852546 853842 855949 856014	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	GIS1	851670	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	GIS1	851670	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	GIS1	851670	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	GIS1	851670	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	GIS1	851670	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	GIS1 VPS1	851670 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	GIS1 GLO1 NHX1	851670 852066 855009	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	GHRL HTR2C MAGEL2	3358 51738 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:5353	colonic disease Aliases: colon disorder	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060872	isolated growth hormone deficiency type II Aliases: IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II	GH2	2689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	GH2 GHR GHRHR GHSR IGFALS TG	2689 2690 2692 2693 3483 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1	2678	Homo sapiens (human)	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1 GGTLC1 GGTLC2	2678 91227 92086	Homo sapiens (human)	Alliance of Genome Resources

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