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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 **14976 - 15000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	SPTLC1 SPTLC2 SPTLC3	10558 55304 9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:811	lipodystrophy	AGPAT2 BSCL2 CCL2 LMNA LPIN1 PPARG	10555 23175 26580 4000 5468 6347	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:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	Abo Afp F5 Golm1 Ifng Lipc Ogg1 Pdcd1 Spp1 Trf	105348 11576 14067 15450 15978 18294 18566 20750 22041 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Abcb11 Abcb4 Ace Adamts13 Adar Adipoq Ager Akap12 Azgp1 Ccl2 Cd163 Cd36 Csf1r Cygb Dnmt1 Drd4 Egfr Egr1 Entpd2 F2 F3 F5 Fbn1 Fgfr4 Flt1 Gclc Gdf1 Ggt1 Gli3 Glul Golm1 Gp1ba Gpc3 Gpt H2-Aa H2-Ab1 H2-Eb1 Hc Hfe Hp Icam1 Ifna11 Ifna12 Ifna13 Ifna16 Ifna1 Ifna4 Ifna9 Ifng Ifnl2 Igf1r Igf2 Il10 Il18bp Il21 Il27 Irf5 Itgb6 Itih4 Kdr Klkb1 Krt18 Krt8 Lbp Mbl2 Mmp1a Mmp2 Mpo Myc Nfe2l2 Nos3 Pdgfb Pdgfd Pdia3 Pecam1 Pgf Phkg2 Plaur Pnpla3 Ptgs2 Rbp4 Rela Reln Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinh1 Slc6a4 Smo Sod2 Spag9 Spint1 Tfpi Tgfb1 Tgfb2 Thpo Tlr3 Tlr4 Tnf Vcam1 Vegfa Vegfc	105348 11421 11450 114886 11596 116939 12007 12406 12491 12496 12978 13433 13491 13649 13653 14061 14066 14067 14118 14186 14254 142980 14559 14598 14629 14634 14645 14723 14734 14827 14960 14961 14969 15139 15216 15439 15567 15894 15962 15964 15967 15972 15978 16001 16002 16068 16153 16420 16427 16542 16621 16668 16691 16803 17195 17390 17523 17869 18024 18127 18591 18613 18654 18670 18793 19225 19662 19697 19699 20296 20656 20700 20701 20702 20703 20704 20732 21788 21803 21808 21832 21898 21926 22329 22339 22341 230396 230398 242519 246779 27056 27413 279028 319757 330496 56417 60505 68961 70834 71785 76282 83397 83995 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070411	autosomal recessive spinocerebellar ataxia 30 Aliases: SCAR30	PITRM1	10531	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	PITRM1 SIL1	10531 64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	CACNA1A CACNA1B CACNA1E PITRM1 SCYL1	10531 57410 773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050983	spinocerebellar ataxia type 36	NOP56	10528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	HYOU1	10525	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	DEAF1	10522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	DDX17 DDX5 GUCY2C LEP NEIL1 PPARG PPARGC1A SIRT3 SLC2A9	10521 10891 1655 23410 2984 3952 5468 56606 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	105193 13853 14936 232493	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	FBLN5	10516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070135	autosomal recessive cutis laxa type IA Aliases: ARCL1A	FBLN5	10516	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	AARS1 AARS2 CADM3 FBLN5 FGD3 FIG4 GSTT2B ITPR3 JAG1 MPZ MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 NARS1 NEFL NRG1 PMP22 POLR3B SGPL1 SLC12A6 TNFRSF11B YARS1	10516 16 182 3084 3710 4359 4534 4677 4747 4982 5376 55613 55703 57505 57863 653689 8565 8776 8879 8897 8898 89846 9107 9108 9110 9896 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	CCL2 CCR2 CD46 FBLN5 PPARGC1A	10516 10891 4179 6347 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ATF2 BMPR1B CEBPB CHST3 COL10A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP DYM FLNA FLNB GOLGB1 HSPG2 LIFR MATN3 NPPC PTH1R RNF146 RYR1 SLC26A2 TGFB1 TGFB2 TGFBR1 TRPS1	1051 1280 1297 1298 1299 1300 1302 1311 1386 1836 2316 2317 2804 3339 3977 4148 4880 54808 5745 6261 658 7040 7042 7046 7227 81847 9469	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	CCL7 CD46 CEBPB DOCK8 EHMT1 EHMT2 IL15	1051 10919 3600 4179 6354 79813 81704	Homo sapiens (human)	Alliance of Genome Resources

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