GlyCosmos Portal

GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Database	Last Updated
Alliance of Genome Resources	February 28, 2024
DisGeNET	February 14, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Disease ID ▼	Disease Name	Gene Symbol	Gene ID
DOID:0050575	D-2-hydroxyglutaric aciduria	IDH1	3417
DOID:0050574	L-2-hydroxyglutaric aciduria	L2HGDH L2HGDH	35156 79944
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH L2HGDH	35156 79944
DOID:0050572	cone-rod dystrophy	PDE6C Pde6 Pde6c eys	110855 41760 493780 5146
DOID:0050571	congenital disorder of glycosylation type II	ATP6AP2 ATP6AP2 EDEM3 Edem2 Edem3 GALNT2 Galnt2 Galnt2 Pgant2 SLC35C1 SLC37A4 TMEM165 edem3.L galnt2.L galnt2.S galnt2 galnt2 gly-4 nac	100488284 101027298 10159 108148 108716128 180302 2542 2590 292090 33556 34714 40981 41104 443907 55343 55858 570248 66967 80267
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG12 ALG1 ALG1 ALG1L2 ALG5 ALG5 ALG6 ALG6 ALG8 ALG8 ALG9 ALG9 Alg12 Alg12 Alg12 Alg1 Alg1 Alg1 Alg5 Alg5 Alg6 Alg6 Alg8 Alg8 Alg9 Alg9 Alg9 DOLK DPM1 DPM1 DPM3 Dolk Dpm1 Dpm1 Dpm1 Dpm2 Dpm3 MPI PMM1 PMM2 RFT1 RFT1 SRD5A3 alg12 alg12 alg1 alg1 alg5 alg6 alg6 alg8 alg8 alg9 alg9 algn-12 algn-1 algn-5 algn-6 algn-8 algn-9 dpm-1 dpm1 dpm1 gny wol xit	100497477 102580 13480 13481 174542 174633 175920 176874 178822 179185 182392 208211 223774 22845 293129 295051 296394 29880 29929 315212 31623 320438 327601 334161 34134 34409 35240 360475 362547 367083 36856 381903 3885575 393598 41191 42146 43031 4351 445202 445327 448472 496884 496948 5372 5373 54344 548388 548874 56052 569494 594994 644974 66248 79053 79087 79644 79796 852261 852407 854163 854233 855502 855764 855874 856313 8813 91869
DOID:0050567	orofacial cleft	ACSS2	55902
DOID:0050565	autosomal recessive nonsyndromic deafness	AFG2B Afg2b Afg2b afg2b	214616 691729 780248 79029
DOID:0050564	autosomal dominant nonsyndromic deafness	PI4KB	5298
DOID:0050563	nonsyndromic deafness	ALG10 ALG10B Alg10 Alg10 Alg10b DIE2 alg10 alg10 algn-10	100331575 144245 172855 245960 326193 380959 548946 84920 853142