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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 **4701 - 4725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0060400	chromosome 16p12.2-p11.2 deletion syndrome Aliases: 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	CYP11A1 FREM1 NEIL1 PAFAH1B1 PRNP	1583 158326 5048 5621 79661	Homo sapiens (human)
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	AMT CYP11A1 FREM1 GLDC PAFAH1B1 PRNP	1583 158326 2731 275 5048 5621	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7A1 CYP7B1	1581 9420	Homo sapiens (human)
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	CYP7A1 GAD2 GGT1 INPP5K PTGS2 TKTL1	1581 2572 2678 51763 5743 8277	Homo sapiens (human)
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	ACHE APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MDH1 MGAM PRNP PYGL PYGM SI SLC37A4	1581 2538 2542 2632 2992 2998 353 4190 43 5621 5836 5837 6476 8972	Homo sapiens (human)
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADIPOQ CBR4 CD14 CFC1 CYP7A1 ENPP2 FCGR3B GGT1 GPC1 ICAM1 MBD4 NCAM1 PCK1 PTEN SELE	1581 2215 2678 2817 3383 4684 5105 5168 55997 5728 6401 84869 8930 929 9370	Homo sapiens (human)
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	ACE CD55 CH25H CYP27B1 CYP7A1 FUT4 GPC5 PIK3CA PIK3CB PIK3CD PIK3CG RGMA SDC1	1581 1594 1604 1636 2262 2526 5290 5291 5293 5294 56963 6382 9023	Homo sapiens (human)
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ALPP ATRNL1 CYP27A1 CYP7A1 CYP8B1 HMGCS2 LGALS1	1581 1582 1593 250 26033 3158 3956	Homo sapiens (human)
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	ACE CAT CYP4A11	1579 1636 847	Homo sapiens (human)
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	AKR1C3 CYP3A5 TP53	1577 7157 8644	Homo sapiens (human)
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)
DOID:0060903	thrombosis	ANXA5 CD177 CD55 CYP3A5 DCN FUT4 PIK3CB PTGS1 PTGS2 TBXAS1	1577 1604 1634 2526 308 5291 57126 5742 5743 6916	Homo sapiens (human)
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	CYP3A4 FUT4 NYX PCYT1B RPE SORD	1576 2526 60506 6120 6652 9468	Homo sapiens (human)
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:12252	obsolete Cushing's syndrome	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	ALPP ATRNL1 CALR CLEC1B CYP2J2 FUT1 G6PD GOLPH3 HPRT1 ICAM5 IDH2 IL18R1 LMAN1 MCFD2 PIGA PIK3CD PKLR POGLUT1 SMUG1 SOAT1 UGT1A1	1573 23583 250 2523 2539 26033 3251 3418 3998 51266 5277 5293 5313 54658 56983 64083 6646 7087 811 8809 90411	Homo sapiens (human)
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	CYP2E1	1571	Homo sapiens (human)
DOID:0070172	spermatogenic failure 15 Aliases: SPGF15	CYP2E1	1571	Homo sapiens (human)
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	CYP2E1 LYZ PAFAH1B1 PTEN PTGS2	1571 4069 5048 5728 5743	Homo sapiens (human)

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