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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 **9701 - 9725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0081225	autosomal recessive intellectual developmental disorder 64	LINGO1	84894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070205	familial partial lipodystrophy type 4 Aliases: FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations	PLIN1	5346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	VIPAS39 VPS33B	26276 63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:2527	nephrosis	ACE ANGPT1 ANGPT2 CAT CCL1 CCL7 CD36 CD59 CFH CX3CL1 CYP11A1 CYP27B1 EDN1 F2 GATA3 GPX1 HAVCR1 LAMB2 LRP2 NES NPPA NPPB PDPN PTPRU SREBF2 VIM	10076 10630 10763 1583 1594 1636 1906 2147 2625 26762 284 285 2876 3075 3913 4036 4878 4879 6346 6354 6376 6721 7431 847 948 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	FMOD IL6 VEGFA	2331 3569 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	SGCE	8910	Homo sapiens (human)	Alliance of Genome Resources
DOID:3382	liposarcoma Aliases: lipomatous cancer	FUS IL22	2521 50616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060917	facioscapulohumeral muscular dystrophy 3 Aliases: FSHD3 facioscapulohumeral muscular dystrophy type 3	LRIF1	55791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060500	drug allergy	IL2	3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	HLA-DQB1 LRP2	3119 4036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111487	combined oxidative phosphorylation deficiency 7 Aliases: COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	ETFB	2109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110076	arrhythmogenic right ventricular dysplasia 8 Aliases: ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	COL18A1 GPNMB	10457 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081154	common variable immunodeficiency 12	NFKB1	4790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6PD	9563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources

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