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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **1326 - 1350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4b	12268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081397	Vissers-Bodmer syndrome	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112143	retinitis pigmentosa 86 Aliases: RP86	D630045J12Rik	330286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	pdgfra	386856	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	GIT1 RNY1	850462 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ADRB2 APOA1 APOB APOE EPHX2 GHR GK LDLR MMP9 PCSK9 PON2 RBP4 SERPINE1	154 2053 255738 2690 2710 335 338 348 3949 4318 5054 5445 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060891	Parkinson's disease 19A Aliases: juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A	GAK	2580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070232	benign recurrent intrahepatic cholestasis 2 Aliases: BRIC type 2 BRIC2	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	TrpA1	39015	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	Pcsk1	25204	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:10247	pleurisy	srp-3	178672	Caenorhabditis elegans	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	C3 Ccl11 Ccl2 Ccr5 Cd40lg Crp Cxcr1 Fas Fcgr3a Ifng Il10 Il15 Il21 Kir3dl1 Lepr Nefl Nefm Oprm1 Plaur Ppia Ppial4d Ptgs2 Selp Serpina1 Tnf	100360977 117029 24232 24536 24588 246097 24648 24770 24835 25325 25419 25518 25601 25651 25670 25712 29397 29527 304966 353253 365769 50692 54258 83613 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	Crp Csf2 Erbb4 Ngf Vcam1 Vegfa	116630 25361 25419 310738 59323 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:305	carcinoma Aliases: epithelial cancer epithelioma malignant Epithelioma	Ctnnb1 Erbb3 Erbb4 Flt4 Jup Kdr Pdgfra Prkcz S1pr2	114110 25267 25522 25589 29415 29496 59323 81679 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	NPP1 NPP2	850391 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	GSY1 GSY2 NPP1 NPP2	850391 850569 850962 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	Scn4a	25722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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