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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 **701 - 725** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060883	intestinal hypomagnesemia 1 Aliases: HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia	TRPM6	140803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	CNNM2	54805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060891	Parkinson's disease 19A Aliases: juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A	GAK	2580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ADH1C ATXN2 ATXN3 EIF4G1 GBA1 HLA-DRA LRRK1 MAPT PMPCB PSAP TBP UQCRC1	126 1981 2629 3122 4137 4287 5660 6311 6908 7384 79705 9512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	PARK7 PINK1 SYNJ1 SYNJ2	11315 65018 8867 8871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	CXCR4 FCGR3A GPX3 IL10 IL6 IRF4 MYD88	2214 2878 3569 3586 3662 4615 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060903	thrombosis	ACE2 APOH C5AR1 CD40LG F11 F2 F3 F5 FCGR2A FGB HRG ITGA2 ITGAM MMP1 MMP3 MMP9 P2RY12 PIK3CB PLAU PROC SERPINC1 SERPINE1 TBXAS1 VTN	2147 2152 2153 2160 2212 2244 3273 350 3673 3684 4312 4314 4318 462 5054 5291 5328 5624 59272 64805 6916 728 7448 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060912	craniosynostosis 7 Aliases: CRS7	SMAD6	4091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060916	proteasome-associated autoinflammatory syndrome 3 Aliases: PRAAS3	PSMB4	5692	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:0060929	non-syndromic X-linked intellectual developmental disorder 111 Aliases: XLID111	SLITRK2	84631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060931	developmental dysplasia of the hip 1 Aliases: DDH1	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2AF2	11338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	KMT2B	9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060937	dystonia 30 Aliases: DYT30	VPS16	64601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060939	dystonia 32 Aliases: DYT32	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060940	dystonia 33	EIF2AK2	5610	Homo sapiens (human)	Alliance of Genome Resources

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