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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 **9676 - 9700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080499	ovarian dysgenesis 7	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	MAP2 PDIA3 XRCC1	2923 4133 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	ARSL EBP NSDHL	10682 415 50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	BMP4 CDH1 FGFR1 GDF6 MTHFD1 NECTIN1 NOG POMT1 SDC2 SLC19A1	10585 2260 392255 4522 5818 6383 652 6573 9241 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060453	Reis-Bucklers corneal dystrophy Aliases: RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080827	human cytomegalovirus infection	KIR3DS1 REN	3813 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110394	retinitis pigmentosa 44 Aliases: RP44	RGR	5995	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	DSG2	1829	Homo sapiens (human)	Alliance of Genome Resources
DOID:9507	ethmoid sinusitis Aliases: ethmoidal sinusitis ethmoiditis	CCL7	6354	Homo sapiens (human)	Alliance of Genome Resources
DOID:12365	malaria Aliases: induced malaria	ABCB1 ACKR1 ANK1 APOE AQP4 CBS CD163 CD36 CR1 CTLA4 EPHB3 FCGR2A FCGR2B FCGR2C G6PD GYPA GYPB GYPC HBB ICAM1 IFNG KIR3DL1 KIR3DS1 NCR3 NOS2 PKLR PROCR SLC19A1 TNF TREM1	10544 1378 1493 2049 2212 2213 2532 2539 259197 286 2993 2994 2995 3043 3383 3458 348 361 3811 3813 4843 5243 5313 54210 6573 7124 875 9103 9332 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	EFNB1	1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	MAP2K6 MAPT OGG1 SOD1 TARDBP	23435 4137 4968 5608 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	DCLRE1C FCGR2A HLA-DQB1 ICOS IL21R MBL2 NFKB2 PECAM1	2212 29851 3119 4153 4791 50615 5175 64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	CAT HNRNPK	3190 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	ALB CCL11 CCL2 CCR5 CLPTM1L CSF3 CXCR3 EDNRA EGR1 ELANE FGA FSTL1 FUT8 GCLC HDAC2 ITGB6 JUN KEAP1 KL MMP1 MMP2 MMP9 NFE2L2 NOS2 PTGS2 PTMA SERPINA1 SFTPC SMO SMPD3 TGFB1 TLR4	11167 1234 1440 1909 1958 1991 213 2243 2530 2729 2833 3066 3694 3725 4312 4313 4318 4780 4843 5265 55512 5743 5757 6347 6356 6440 6608 7040 7099 81037 9365 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Aliases: Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050328	congenital hypothyroidism	ARPC5 DUOX1 DUOX2 EGR1 FOS G6PD GH2 GHR INHBB NEFH NEFL NEFM NGFR PAX8 PPARGC1A RUNX2 SLC26A7 SLC5A5 TG TPO TRHR TSHR	10092 10891 115111 1958 2353 2539 2689 2690 3625 4741 4744 4747 4804 50506 53905 6528 7038 7173 7201 7253 7849 860	Homo sapiens (human)	Alliance of Genome Resources

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