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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 **1626 - 1650** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Aliases: IDDBAS	PUS7	54517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Aliases: PAMDDFS	TUBGCP2	10844	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ APOA4 CTLA4 F3 FAS FASLG FCGR3A HGF HLA-A HLA-B HLA-C HLA-DPB1 HLA-E HLA-F HLA-G HSPA1A HSPA1B HSPA8 IFNG IL10 IL10RB IL1A IL1RN IL2 JAK3 MKI67 NOD2 PDGFB SELL TFPI TP53 VEGFA	1493 2152 2214 28 3082 3105 3106 3107 3115 3133 3134 3135 3303 3304 3312 337 3458 355 3552 3557 3558 356 3586 3588 3718 4288 5155 6402 64127 7035 7157 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081268	pulmonary venoocclusive disease 1	BMPR2	659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081270	Smith-McCort dysplasia 1	DYM	54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081271	Smith-McCort dysplasia 2	RAB33B	83452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	EMC1	23065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081288	white sponge nevus 2	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081289	Antley-Bixler syndrome Aliases: Antley Bixler syndrome Antley and Bixler's syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081290	Antley-Bixler syndrome without disordered steroidogenesis	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081292	traumatic brain injury	ADAM10 AHR APP BAD CAPN1 CD163 CIT CYP2D7 DRD1 DRD2 FTO FUBP1 GRIA1 LAMP2 LCN2 MAPT MMP2 NFE2L2 NGF NOX1 PDE10A TGFB1 TP53	102 10846 11113 1564 1812 1813 196 27035 2890 351 3920 3934 4137 4313 4780 4803 572 7040 7157 79068 823 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081294	neuronal intranuclear inclusion disease	OPTN	10133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081297	oculopharyngodistal myopathy 1	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	MTSS1 MTSS2	92154 9788	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:0081317	multiple synostoses syndrome 1	GDF5 NOG	8200 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081318	multiple synostoses syndrome 2	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081319	multiple synostoses syndrome 3	FGF9	2254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD2	1106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources

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