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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 **176 - 200** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ARX IDH3A IDH3B IDH3G SCN8A STXBP1	170302 3419 3420 3421 6334 6812	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 THAP11	5052 57215	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:0050718	vitamin metabolic disorder	SLC5A12 SLC5A5 SLC5A6 SLC5A8	159963 160728 6528 8884	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:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2 COQ9	27235 57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR CBS CD40LG CFL1 FUT2 GPX3 MTR PON1	1072 2524 2878 4548 5444 811 875 959	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:0050736	autosomal dominant disease	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050737	autosomal recessive disease	NCAPG2 PPP1R13L	10848 54892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ADH1B ADH1C ADH4 ADRA2A AGO1 AGO2 AHR ALDH2 ANGPT1 AR BDNF BMAL1 BPTF CACNA1C CCK CHRNA3 CHRNB3 COMT CPE CREB1 CYP2C9 CYP2E1 CYP3A5 DRD1 DRD2 DRD4 FMN1 FOS FOSB GABBR1 GABRA2 GABRB3 GABRG2 GAD1 GAD2 GDNF GEMIN4 GGT1 GGTLC1 GGTLC2 GRIN2A GRM8 HTR1A HTR1B HTR2A HTR3A IGF1R IL1RN INSR INSRR KCNB2 LEP NCAM1 NGF NGFR NR3C2 NRXN3 NUCB2 OPRD1 OPRK1 OPRM1 PDE4B PER2 POMC PRL RPS6KB1 SLC29A1 SLC6A1 SLC6A2 SLC6A4 TAS2R16 XRCC5	1136 1142 125 126 127 1312 1363 1385 150 1559 1571 1577 1812 1813 1815 196 2030 217 2186 2353 2354 2550 2555 2562 2566 2571 2572 26523 2668 2678 27161 284 2903 2918 3350 3351 3356 3359 342184 3480 3557 3643 3645 367 3952 406 4306 4684 4803 4804 4925 4985 4986 4988 50628 50833 5142 5443 5617 6198 627 6529 6530 6532 7520 775 885 8864 91227 92086 9312 9369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A CCK CHRFAM7A CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB3 CHRNB4 COMT CREB1 CYP2B6 DRD2 DRD3 FIGNL1 FOS GABBR1 GABBR2 GRIN2B HTR1A HTR1B HTR2A HTR2C HTR3A LCP1 NCAM1 NPY1R OPRM1 PLCB4 POMC RPTOR SLC6A3 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7	1136 1137 1138 1139 1142 1143 1312 1385 150 1555 1813 1814 2353 2550 2904 3350 3351 3356 3358 3359 3936 4684 4886 4988 5332 5443 57113 57521 63979 6531 7222 7223 7224 7225 885 8973 89832 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050744	anaplastic large cell lymphoma	IRF4 JUNB	3662 3726	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B DICER1 EZH2 FCGR2A ICAM1 IL21R IRF4 MKI67 MYD88 PRDM1 SMURF2 TP53	2146 2212 23405 3383 3662 4288 4615 50615 639 64750 7157 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 RC3H1	149041 3662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050750	splenic marginal zone lymphoma	CD79B	974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources

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