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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:0050894	ameloblastoma	CD44 DAG1 GGT1 GPC1 GPC3 HPSE HSPG2 MOGS PTGS2 RECK SDC1 SDC2	10855 1605 2678 2719 2817 3339 5743 6382 6383 7841 8434 960	Homo sapiens (human)	DisGeNET
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4 Aliases: AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5 Aliases: AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110058	amelogenesis imperfecta type 1E Aliases: AIH1 X-linked amelogenesis imperfecta 1 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type IE	AKR1C1 AKR1C2 MMP25 SLC17A5 TMEM165	1645 1646 26503 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110053	amelogenesis imperfecta type 4 Aliases: AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2187	amelogenesis imperfecta	AKR1C1 AKR1C2 ENPP1 MMP25 TMEM165	1645 1646 5167 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)	DisGeNET
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:670	amphetamine abuse	ACHE ACSL6 CD55 CDH13 COMT GAD1 GAD2 HS3ST4 LARGE1 NPY1R	1012 1312 1604 23305 2571 2572 43 4886 9215 9951	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:670	amphetamine abuse	Comt Npy1r	12846 18166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:670	amphetamine abuse	Comt	24267	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3502	ampulla of Vater adenocarcinoma Aliases: ampullary adenocarcinoma	CD44 PTEN	5728 960	Homo sapiens (human)	DisGeNET
DOID:10022	ampulla of Vater benign neoplasm Aliases: tumor of the ampulla of Vater	CALR	811	Homo sapiens (human)	DisGeNET
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)	DisGeNET

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