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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 **8476 - 8500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	DNAAF2	55172	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090120	hereditary neutrophilia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081146	common variable immunodeficiency 3	CD19	930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080696	Winchester syndrome	MMP14	4323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112189	thyroid dyshormonogenesis 6 Aliases: TDH6 genetic defect in thyroid hormonogenesis 6	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABCE1 ABCG2 ADAM28 AFDN AMACR APEX1 ATM ATP7B BIN1 BRCA1 CA9 CADM1 CD46 CD59 CD82 CD9 CDC25A CDC25B CDH13 CTCF CYP24A1 DCN DDR1 EGFR ENO2 EP300 ESR1 FAS FZD1 FZD2 HDAC1 HLA-DRB1 IGF2R KDM6B KDR KLK6 KMT2D LZTS1 MDC1 MMP14 MRE11 MSH2 MSH6 NCOA1 NCOA3 NME1 PDGFRA PDGFRB PLCG1 PLK1 PLK3 POLE PRSS8 RHOA SNW1 SRD5A1 SRD5A2 STAT1 TFRC THOC5 TIMP3 TWIST1 VEGFC WNT2 ZFHX3	1012 10664 10863 11178 1263 1591 1634 1956 2026 2033 2099 22938 23135 23600 23705 2535 274 2956 3065 3123 328 3482 355 3732 3791 387 4179 4301 4323 4361 4436 463 472 4830 5156 5159 5335 5347 540 5426 5652 5653 6059 6715 6716 672 6772 7037 7078 7291 7424 7472 768 780 8085 8202 8321 8563 8648 928 9429 9656 966 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110313	hypertrophic cardiomyopathy 7 Aliases: CMH7 cardiomyopathy, familial hypertrophic 7	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	APEX1 CD9 EFEMP2 ERAP1 FGFR3 MGMT PTGS1 PTK2 SPARC TK1	2261 30008 328 4255 51752 5742 5747 6678 7083 928	Homo sapiens (human)	Alliance of Genome Resources
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	TFF1 TFRC TP53	7031 7037 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	CES1 SMAD4	1066 4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	BACE1	23621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1	2683	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:680	tauopathy	CD2AP ENAH EVL MAP4 MAPT SH3KBP1 SNRPB VASP	23607 30011 4134 4137 51466 55740 6628 7408	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TEK TG	7010 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081111	osteosclerotic metaphyseal dysplasia	LRRK1	79705	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	RFT1	91869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ATP4B HLA-DQB1 HLA-DRB1 PTPN11	3119 3123 496 5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	CCR2 KRAS PDGFRA	3845 5156 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	CHRNA5 DLL4 NOTCH1 PTPN13	1138 4851 54567 5783	Homo sapiens (human)	Alliance of Genome Resources
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	ANP32B ANP32E ARPC5 ARPC5L CCT2 DHX36 EIF4E ELOA2 ELOA FTH1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT9 LTF PRKD2 RRAGC SEC13 SMAP1 SMAP2 SMARCE1 UBXN4	10092 10541 10576 10690 170506 1977 23190 2495 2525 2526 2527 2528 2529 25865 4057 51224 60682 6396 64121 64744 6605 6924 81611 81873	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	IGFBP3	3486	Homo sapiens (human)	Alliance of Genome Resources

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