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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 **11826 - 11850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	Alliance of Genome Resources
DOID:4377	egg allergy Aliases: Allergy to eggs	GRIN2B IL13	2904 3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060211	amyotrophic lateral sclerosis type 20 Aliases: ALS20 amyotrophic lateral sclerosis 20	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABCA1 ABCB4 ABCC2 ACE2 ACE AGT AQP4 CCL5 CCN2 CD14 CD68 COL1A1 CPEB1 CPEB4 CTLA4 DAG1 DNASE1 ENTPD2 FAS HHIP HLA-DQA1 IFNG IL10 IL12A IL12RB1 IL4 IL6 KRT18 LBR LEP LEPR MAS1 MMP13 MMP2 MMP3 MMP9 MUC2 NOS2 NOS3 NR3C1 NUP62 PDE5A PPARGC1A RELA REN RPS6KB1 SLCO1A2 SLCO1C1 SOD2 STAT4 TLR9 TNF UTP4 VEGFA	10891 1244 1277 1490 1493 1605 1636 1773 183 19 23636 2908 3117 3458 355 3565 3569 3586 3592 3594 361 3875 3930 3952 3953 4142 4313 4314 4318 4322 4583 4843 4846 5244 53919 54106 59272 5970 5972 6198 6352 64399 64506 6579 6648 6775 7124 7422 80315 84916 8654 929 954 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	AFP CTNNB1 FGF8 SALL4 WNT2B	1499 174 2253 57167 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources
DOID:3482	plague	CCR5 IL17A	1234 3605	Homo sapiens (human)	Alliance of Genome Resources
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	ACE CCL2 CCN2 UTS2R	1490 1636 2837 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	ERLIN1	10613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	TFG	10342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111910	spermatogenic failure Aliases: SPGF	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	CC2D2A KIF14 RPGRIP1L TBC1D32 TMEM231 TMEM67 TXNDC15	221322 23322 57545 79583 79770 91147 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081312	T-cell non-Hodgkin lymphoma	FGFR1 IER3 JAK3 KDM2B TMEM260 TP53	2260 3718 54916 7157 84678 8870	Homo sapiens (human)	Alliance of Genome Resources
DOID:3275	thymoma	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources
DOID:670	amphetamine abuse	AKT1 BDNF CAT CD4 CD8A CFH COMT CREB1 FOS FOSB GABBR1 GABRG2 GAD1 GAD2 GRIA1 MAP3K6 NPY1R SLC18A1 SLC18A2 SNCA	1312 1385 207 2353 2354 2550 2566 2571 2572 2890 3075 4886 627 6570 6571 6622 847 9064 920 925	Homo sapiens (human)	Alliance of Genome Resources
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	CDH1 CXCR4 DNMT1	1786 7852 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2 Aliases: FHL2 HLH2 HPLH2	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)	Alliance of Genome Resources

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