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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 **7701 - 7725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	AMBRA1 COQ2 FAS IGF2 KLK6 SLC1A1 SLC6A6 SNCA	27235 3481 355 55626 5653 6505 6533 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060796	hypomyelinating leukodystrophy 12 Aliases: HLD12	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C2 C3 CCL2 CCR1 CCR5 CD59 CFB CFH HLA-B IL1RN NOS2 TLR2 TLR4 TNF	1230 1234 3075 3106 3557 4843 629 6347 7097 7099 7124 717 718 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	SVIL	6840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ADRA2A BDNF CNR2 CREB1 CTNND2 CYP3A5 DRD2 ELK1 GAD1 GDNF HCN1 HDAC2 HTR1A HTR1B HTR2C HTR7 KDM3B L1CAM LEF1 MANEA MC4R NCOR1 NODAL NPY1R NTRK2 POMC SCN1A SCN2A SCN3A SCN9A SLC18A2 SLC6A4 TSC2	1269 1385 150 1501 1577 1813 2002 2571 2668 3066 3350 3351 3358 3363 348980 3897 4160 4838 4886 4915 51176 51780 5443 627 6323 6326 6328 6335 6532 6571 7249 79694 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	IGF2	3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	PYCR1 PYCR2	29920 5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias Aliases: TANGO2 deficiency metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2	128989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	KRAS MAP2K1	3845 5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060939	dystonia 32 Aliases: DYT32	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:11678	onchocerciasis Aliases: Infection by Onchocerca volvulus Onchocerca volvulus infection volvulosis	HLA-DPA1 HLA-DQA1 IL13	3113 3117 3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	ABL1 ARID1A CDC5L CTSB CYP19A1 CYP24A1 FAS FOXA1 FOXP1 GHRL GPX3 GRB7 KDR MMP12 MMP14 MMP1 MMP3 MMP9 NOS3 PTGS1 PTGS2 SMO SOD2 TNFRSF10A	1508 1588 1591 25 27086 2878 2886 3169 355 3791 4312 4314 4318 4321 4323 4846 51738 5742 5743 6608 6648 8289 8797 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080855	Parkinsonism	ABAT ABCC8 ABCC9 BAD BDNF CASP9 CNR1 COMT COX1 CSF2 CX3CL1 DRD2 DRD3 EGFR ENO2 ESR1 GBA1 GDNF GFRA1 GFRA2 GRM8 GSK3A HSPA1A HSPA9 KCNJ11 LRRK2 MAPT MMP3 NDUFS3 NFKB2 NGF NGFR NOS1 NTRK1 PARK7 PINK1 PTGS2 RELA RET SHH SLC11A2 SLC17A8 SLC6A3 SLC6A4 SRC TNFRSF1B VDAC1	10060 11315 120892 1268 1312 1437 18 1813 1814 1956 2026 2099 246213 2629 2668 2674 2675 2918 2931 3303 3313 3767 4137 4314 4512 4722 4791 4803 4804 4842 4891 4914 572 5743 5970 5979 627 6376 6469 65018 6531 6532 6714 6833 7133 7416 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	ATM CHD4 MALT1 PAFAH1B2 RELA	10892 1108 472 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B BICC1 CC2D1A CC2D2A CCDC39 CFAP53 CFC1 CFC1B DNAAF3 DNAH11 DNAH5 DRC1 FOXH1 GDF1 IFT74 MEGF8 MMP21 NODAL ODAD2 OSBPL1A PCSK5 PHKA2 PKD1L1 PSME4 SLIT2 TBC1D32 TMEM67	114876 118856 168507 1767 1954 220136 221322 23198 2657 339829 352909 4838 5125 5256 54862 55130 55997 57545 653275 80114 80173 8701 8928 91147 92749 93 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110786	hereditary spastic paraplegia 35 Aliases: FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia	FA2H	79152	Homo sapiens (human)	Alliance of Genome Resources

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