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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050691	branchiooculofacial syndrome	TFAP2A	7020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	PER2 POMC	5443 8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	LTA MBL2 TNF	4049 4153 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ADIPOQ DGAT1 DTNA HFE JUP KLK1 MLYCD MYH7 NONO NOS3 POMT1 SLC22A5 SOD2 SRF TAB2 TSHR	10585 1837 23118 23417 3077 3728 3816 4625 4841 4846 6584 6648 6722 7253 8694 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1	5052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	LMBRD1	55788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1	2348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050724	PSPH deficiency Aliases: PSPHD Phosphoserine phosphatase deficiency	PSPH	5723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	FUT2	2524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ADH1B ADH1C ADH4 ADRA2A AGO1 AGO2 ALDH2 ANGPT1 AR BMAL1 BPTF CCK CHRNA3 CHRNB3 COMT CPE CREB1 DBI DRD2 FMN1 GABBR1 GABRA2 GABRB3 GABRG2 GAD1 GAD2 GEMIN4 GRIN2A GRM8 HTR1A HTR1B HTR2A HTR3A KCNB2 LEP NCAM1 NR3C1 NRXN3 NTRK2 OPRD1 OPRK1 OPRM1 PDE4B PER2 POMC SLC6A1 SLC6A2 SLC6A4 TAS2R16	1136 1142 125 126 127 1312 1363 1385 150 1622 1813 217 2186 2550 2555 2562 2566 2571 2572 26523 27161 284 2903 2908 2918 3350 3351 3356 3359 342184 367 3952 406 4684 4915 4985 4986 4988 50628 50833 5142 5443 6529 6530 6532 885 8864 9312 9369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A APBB1 APC2 CCK CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNB3 CHRNB4 COMT CYP2B6 DRD2 DRD4 FIGNL1 GABBR1 GABBR2 GALR1 GRIN2B HTR1B HTR2A HTR3A IL1RN LCP1 NCAM1 NPY1R NR3C1 NRG1 NRXN3 NTRK2 OPRM1 POMC RAPGEF3 RPTOR SLC6A3 TPH1	10297 10411 1136 1137 1138 1142 1143 1312 150 1555 1813 1815 2550 2587 2904 2908 3084 322 3351 3356 3359 3557 3936 4684 4886 4915 4988 5443 57521 63979 6531 7166 885 8973 9369 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050744	anaplastic large cell lymphoma	IRF4	3662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B FCGR2A IL21R MYD88	2212 4615 50615 84433 933 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050746	mantle cell lymphoma	BTK CCDC50 CD79B TNFRSF10A	152137 695 8797 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050748	marginal zone lymphoma Aliases: marginal zone B-cell lymphoma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050749	peripheral T-cell lymphoma	IRF4	3662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPB	9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	L2HGDH RPGRIP1L SYNE1	23322 23345 79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050754	ataxia with oculomotor apraxia type 1	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources

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