GlyCosmos Portal

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

Displaying entries **5751 - 5775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	IDS	3423	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	ABCD3	5825	Homo sapiens (human)	Alliance of Genome Resources
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	LDLR	3949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080860	primary ovarian insufficiency 3	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	ABCC3 ABCG2 ABL1 ACSL6 ASXL1 BMI1 BRD7 CALR CBL CCL2 CD86 CDH1 CDKN1B CFHR1 CHI3L1 CREBBP CSF2 CSF3 CSF3R CTLA4 CXCR4 CYP1A1 CYP2B6 DNMT1 EZH2 F3 FADD FAS FGFR1 FLT3 GATA2 GPI GPX1 HLA-DQB1 IDH1 IDH2 IL10 IL1A IL6 ITGAV ITGB3 KAT6A KIT KMT2A KRAS LPP MDM2 MEFV MLLT10 MYBL2 NCOA2 NF1 NOS3 NPM1 NRAS NSD1 NUP214 NUP98 PHF6 PICALM PLCB1 RUNX1 SAMHD1 SF3B1 SH3GL1 SOD2 SRSF4 TERT TET2 TFPI2 TFR2 TOP2A TOP2B TP53 TYMS VEGFA ZRSR2	1027 10499 1116 1387 1437 1440 1441 1493 1543 1555 171023 1786 2146 2152 2260 2322 23236 23305 23451 25 25939 2624 2821 2876 29117 3078 3119 3417 3418 355 3552 3569 3586 3685 3690 3815 3845 4026 4193 4210 4297 4605 4763 4846 4869 4893 4928 54790 6347 6429 64324 6455 648 6648 7015 7036 7153 7155 7157 7298 7422 7852 7980 7994 8021 8028 811 8233 8301 84295 861 867 8714 8772 942 9429 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	Homo sapiens (human)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	EFTUD2 NOLC1 POLR1B TCOF1	6949 84172 9221 9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081155	common variable immunodeficiency 13	IKZF1	10320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060264	pontocerebellar hypoplasia Aliases: PCH	AMPD2 TOE1	114034 271	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	DAXX MGMT PGF	1616 4255 5228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112329	pontocerebellar hypoplasia type 2F Aliases: PCH2F	TSEN15	116461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	COL8A2	1296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050748	marginal zone lymphoma Aliases: marginal zone B-cell lymphoma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112158	De Sanctis-Cacchione syndrome Aliases: xeroderma pigmentosum with neurologic manifestation	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:1019	osteomyelitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources

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