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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 **12026 - 12050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 HFE	1543 1544 3077	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	CYP19A1	1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 NOS1 TGFB1	1588 4842 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	CYP11B1	1584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080430	developmental and epileptic encephalopathy 65 Aliases: DEE65 early infantile epileptic encephalopathy 65	CYFIP2	26999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111715	Schaaf-Yang syndrome Aliases: MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG	CYFIP1 MAGEL2	23191 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060393	chromosome 15q11.2 deletion syndrome Aliases: 15q11.2 microdeletion syndrome	CYFIP1 CYFIP2 UBE3A	23191 26999 7337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080202	adenoid cystic carcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	CYC8 KEX2 PBS2 RNY1	852410 853313 855483 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CYBB IFNG TLR5 TLR9	1536 3458 54106 7100	Homo sapiens (human)	Alliance of Genome Resources

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