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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 **1351 - 1375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4137	common bile duct disease	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1 Aliases: PHA1A autosomal dominant PHA 1	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:4479	pseudohypoaldosteronism	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:5759	sebaceous gland neoplasm Aliases: Sebaceous neoplasm	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)	DisGeNET
DOID:4233	clear cell sarcoma Aliases: Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues melanoma, malignant, of soft parts	MRC1 PTEN	4360 5728	Homo sapiens (human)	DisGeNET
DOID:4907	small intestine carcinoma Aliases: small intestinal carcinoma	MRC1 PTEN UGT1A1	4360 54658 5728	Homo sapiens (human)	DisGeNET
DOID:5828	endometrioid ovary carcinoma Aliases: Ovarian endometrioid carcinoma endometrioid carcinoma ovary	MRC1 PIK3CA PTEN PTGS2	4360 5290 5728 5743	Homo sapiens (human)	DisGeNET
DOID:10146	thymus lymphoma	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	4360 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0050465	Muir-Torre syndrome	MRC1 MUTYH	4360 4595	Homo sapiens (human)	DisGeNET
DOID:8872	penis carcinoma in situ Aliases: Bowen's disease of penis Penile intraepithelial neoplasia grade III Queyrat's erythroplasia carcinoma in situ of penis grade III squamous Intraepithelial Lesion of penis	CD44 MMUT MRC1 PIK3CA PLD2	4360 4594 5290 5338 960	Homo sapiens (human)	DisGeNET
DOID:8110	periampullary adenocarcinoma	MRC1 MTAP	4360 4507	Homo sapiens (human)	DisGeNET
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi	43582	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9282	ocular hypertension	Tpi	43582	Drosophila melanogaster (fruit fly)	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	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	Axn	43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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