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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 **2301 - 2325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060476	Perlman syndrome Aliases: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:8729	milker's nodule Aliases: Milkers' node Paravaccinia milker nodule	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	ACE ALOX5 AMY1A AMY1B AMY1C CAT CD14 FCGR3B GPNMB IL18R1 LGALS9 LYZ MBL2 PNP PTGS2 RECK SELL SLC2A4 SMPD1 VCAM1	10457 1636 2215 240 276 277 278 3965 4069 4153 4860 5743 6402 6517 6609 7412 8434 847 8809 929	Homo sapiens (human)
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	Akt1 Pcna	24185 25737	Rattus norvegicus (Norway rat)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	usta	557218	Danio rerio (zebrafish)
DOID:10932	obsessive-compulsive personality disorder Aliases: OCPD	ACAN COMT	1312 176	Homo sapiens (human)
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	PNP	4860	Homo sapiens (human)
DOID:9505	cannabis abuse Aliases: marijuana abuse	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	oxt wol	34134 38288	Drosophila melanogaster (fruit fly)
DOID:3127	proctitis	CALR CAT CEACAM5 CEACAM6 CEACAM7 COG6 GP2 LYZ MUTYH PARP1	1048 1087 142 2813 4069 4595 4680 57511 811 847	Homo sapiens (human)
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	dpagt1	100487779	Xenopus tropicalis (tropical clawed frog)
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)
DOID:0060496	respiratory allergy Aliases: airway allergy	MBL2 TLR4	4153 7099	Homo sapiens (human)
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	xylt1	100145490	Xenopus tropicalis (tropical clawed frog)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)
DOID:0050852	limb ischemia	cs	322339	Danio rerio (zebrafish)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	689765	Rattus norvegicus (Norway rat)
DOID:0110491	autosomal recessive nonsyndromic deafness 32 Aliases: DFNB32 HIIMS autosomal recessive deafness 105 autosomal recessive deafness 32 hearing impairment infertile male syndrome	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	CIT1 CIT2 CIT3 CTS2 MDH1 MDH2 MDH3 ZWF1	850361 851481 851977 853777 853994 855480 855732 856107	Saccharomyces cerevisiae S288C
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	Trp53 Tymp	22059 72962	Mus musculus (house mouse)
DOID:0060550	ablepharon macrostomia syndrome	ACE	1636	Homo sapiens (human)
DOID:14270	ascending cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)

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