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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6876 - 6900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	CLEC10A CYP19A1 GFPT1 MTM1 MTMR14 OVGP1 SIRT4	10462 1588 23409 2673 4534 5016 64419	Homo sapiens (human)	DisGeNET
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	CPT1B IL1R1 LPIN2 PIGN RPE	1375 23556 3554 6120 9663	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)	DisGeNET
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	ACAN CANX COL9A2 DCN	1298 1634 176 821	Homo sapiens (human)	DisGeNET
DOID:8368	chordoid meningioma Aliases: meningioma, chordoid	PTEN	5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	ACAN ACOT7 CHST3 COMT FADS1 FADS2 GLB1	11332 1312 176 2720 3992 9415 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	Homo sapiens (human)	DisGeNET
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111266	geroderma osteodysplasticum Aliases: GO Walt Disney dwarfism geroderma osteodysplastica gerodermia osteodysplastica	ATP6V0A2 B3GAT3	23545 26229	Homo sapiens (human)	DisGeNET
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	Homo sapiens (human)	DisGeNET
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	CAT PIK3CA PIK3CB PIK3CD PIK3CG PTEN SPHK2	5290 5291 5293 5294 56848 5728 847	Homo sapiens (human)	DisGeNET
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)	DisGeNET
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	COMT LCT	1312 3938	Homo sapiens (human)	DisGeNET
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET

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