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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 **12051 - 12075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2972	renal artery obstruction	APOC3 CD40 SOD1	345 6647 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:2222	factor X deficiency Aliases: disease, Stuart-Prower	F10	2159	Homo sapiens (human)	Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	EWSR1 KDM3A	2130 55818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ABCG2 APOE HAVCR1 INS LCN2 SLC22A2 SLC2A9 STAT3	26762 348 3630 3934 56606 6582 6774 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	AKAP12 ARHGAP26 CBL CSF2 FLT3 JAK3 KRAS NF1 PTPN11 PTPN6	1437 23092 2322 3718 3845 4763 5777 5781 867 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE ARHGEF7 G6PD GLCE GPX3 GRP LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 2878 2922 348 4000 6401 64805 8874	Homo sapiens (human)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	FUCA1	2517	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB	229	Homo sapiens (human)	Alliance of Genome Resources
DOID:289	endometriosis	AR BAX CCL11 CCL2 CCL5 CD36 CSF1 CTNNB1 CYP19A1 CYP1A1 DNMT1 EGR1 ESR1 EZH2 FGFR2 GC HDAC2 HDAC3 HLA-DRB1 IFNG IL10 KDR KRAS MDK MMP2 MMP9 PGR PLK1 PTGES PTGS2 PTK2 RUNX1 SELL SERPINF1 TNF TNFRSF1B VAV1 VEGFA	1435 1499 1543 1588 1786 1958 2099 2146 2263 2638 3066 3123 3458 3586 367 3791 3845 4192 4313 4318 5176 5241 5347 5743 5747 581 6347 6352 6356 6402 7124 7133 7409 7422 861 8841 948 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070279	primary autosomal recessive microcephaly 14 Aliases: MCPH14	SASS6	163786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111268	autosomal recessive hyaline body myopathy Aliases: MSMB Myopathy, myosin storage, autosomal recessive congenital myopathy 7B	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080958	primary hypoalphalipoproteinemia 2 Aliases: Apolipoprotein A-I deficiency	APOA1	335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110883	inflammatory bowel disease 17 Aliases: IBD17	IL23R	149233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	ADAR CD274 EGFR FGFR3 HLA-DPB1 HLA-DRB1 IL1RL1 TLR3 TLR9	103 1956 2261 29126 3115 3123 54106 7098 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:1255	trichostrongyloidiasis	FOXP1	27086	Homo sapiens (human)	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	ANXA1 PIK3CA	301 5290	Homo sapiens (human)	Alliance of Genome Resources

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