GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4176 - 4200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE AGTR2 ALDH1A2 ATP7A BMP4 CBL ELN EP300 FREM1 GATA4 HTR2A IGF2 IGFBP3 IGFBP5 LCN2 LRP1 MYRF NDST1 NOS3 NR2F2 PDGFRA PLS3 SFTPA1 SFTPA2 SFTPB SLC6A4 SLIT2 SLIT3 SOD1 SOD2 SOX7 TNF VEGFA	158326 1636 186 2006 2033 2626 3340 3356 3481 3486 3488 3934 4035 4846 5156 5358 538 6439 652 6532 653509 6586 6647 6648 7026 7124 729238 7422 745 83595 867 8854 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	FREM1	158326	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:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	CYP11B1	1584	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:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ANK2 ARHGAP36 KCNE1 KCNE2 KCNH2 KCNH6 KCNH7 KCNQ1 KCNQ2 KCNQ3 KCNQ5 SCN5A	158763 287 3753 3757 3784 3785 3786 56479 6331 81033 90134 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:11801	protein-energy malnutrition	ALB CYP19A1 LIPC	1588 213 3990	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	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:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	CYP19A1	1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:225	syndrome	APOO CDC42 NSD1 NSD2 NSD3 SCAF4 SCAF8 SVIP ZDHHC15	158866 22828 258010 54904 57466 64324 7468 79135 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	Icam1 Il10 Il1rn	15894 16153 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Icam1 Il1a Il1r1 Il2 Mmp1a Mmp2 Mmp9 Rela Tlr2 Tlr4 Tnf Trp53 Vegfa	15894 16175 16177 16183 17390 17395 19697 21898 21926 22059 22339 24088 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	Icam1 Mmp9 Pdgfa Pdgfra	15894 17395 18590 18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	Gsn Icam1 Sele Vcam1	15894 20339 22329 227753	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	Icam1 Mtor	15894 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13252	mesenteric vascular occlusion	Icam1 Trem1	15894 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	Icam1	15894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	Icam1	15894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	ADSS2 ATRX CCL2 FUS HSPB1 KDR KNL1 MDM2 MET PDHX PTPRB SREBF2 TP53	159 2521 3315 3791 4193 4233 546 57082 5787 6347 6721 7157 8050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	CYP24A1 EZH2 F5 FOS GPX2 GPX3 JUN PTCH1 PTGIS RAF1 SELENOP SMAD4 TNFRSF1A TTR	1591 2146 2153 2353 2877 2878 3725 4089 5727 5740 5894 6414 7132 7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 846	Homo sapiens (human)	Alliance of Genome Resources

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