GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **3626 - 3650** of **15957** in total

« First

‹ Prev

…

142

143

144

145

146

147

148

149

150

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	TUBB3	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Ace2 Ace Adipoq Adrb3 Ager Akr1b1 Akt1 Angpt1 Angpt2 Aoc3 Apob Apoc3 Apoh Aqp4 Bdkrb1 Bdnf Casp9 Ccl2 Cd34 Cd59a Cd59b Cdkal1 Cfb Cfh Cfhr4 Clu Dll4 Egfr Eng Ep300 Epo F13a1 F3 F7 Flt1 Fuca1 Gapdh Gc Ggt1 Glul H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hfe Hgf Icam1 Igf1r Il10 Il1a Ins1 Ins2 Insr Itga2 Itga4 Itgb3 Lta Mmp2 Mmp9 Nfe2l2 Ngf Nos3 Npr3 Pdx1 Pf4 Pgf Pon1 Ppargc1a Rbp4 Robo1 Serpinf1 Slit2 Sod1 Sod3 Thbs1 Tlr4 Tnf Vcam1 Vegfa Vps26a Vtn Vwf Wfs1	110557 11421 11450 11556 11596 11600 11601 11651 11677 11754 11814 11818 11829 12061 12064 12371 12490 12509 12628 12759 13649 13805 13856 14066 14068 14254 14433 14473 14598 14645 14961 14962 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15216 15234 15894 16001 16153 16175 16333 16334 16337 16398 16401 16416 16992 17390 17395 18024 18049 18127 18162 18609 18654 18979 19017 19662 19876 20296 20317 20563 20655 20657 214403 21825 21898 21926 22329 22339 22370 22371 22393 238055 30930 328572 333883 54485 56744 68916 70008 71665 74145	Mus musculus (house mouse)	Alliance of Genome Resources
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:0081098	autosomal recessive intellectual developmental disorder 13	TRS120	852016	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Aliases: NEDMCR syndrome	GEMIN4	50628	Homo sapiens (human)	Alliance of Genome Resources
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	C3 C5 CFB CFP F2 F8 FCGR2A HLA-DQA1 IFNG IL10 PLAT TFPI TGFB1	2147 2157 2212 3117 3458 3586 5199 5327 629 7035 7040 718 727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	Atp10a Sema7a Slc51a	106407 11982 20361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:9402	epididymitis	IL6 TNF	3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	hs3st2 rnf43	100491274 100492586	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	FCGR3A HGF HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-E HLA-F HLA-G IL1RN TNF	2214 3082 3105 3106 3107 3117 3119 3123 3133 3134 3135 3557 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	74653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	Pnpt1	71701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ADAMTS19 ADCY2 CDC34 CHD6 CHD7 CHD8 CHD9 CMA1 CRIPTO DNMT1 FOXP1 GATA4 GDF1 GPX3 HCFC1 HCFC2 ITPR1 JAG1 JPT1 KMT2A KMT2B KMT2C KMT2D LEFTY2 LRP2 MYBPC1 MYBPC2 MYBPC3 MYH7 NAA15 NAA16 NFATC1 NOTCH1 PLCB2 RFC1 RNF20 RNF40 RPS24 SAP130 SMYD4 SON SP4 TAB2 TLL1 UBE2R2 USP17L3 USP42 VEGFA WDR5	108 11091 114826 1215 171019 1786 182 23118 2626 2657 27086 2878 29915 3054 3708 4036 4297 4604 4606 4607 4625 4772 4851 51155 5330 54926 55636 56254 57680 58508 5981 6229 645836 6651 6671 6997 7044 7092 7422 79595 79612 80155 80205 8085 84132 84181 9757 9810 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	cxcr4 fgfr1 has1 has2 has3 hyal2	100038176 100144942 100145711 100487554 100491673 548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	if	32661	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	Cdkn1b	83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	Igfbp3	24484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	comta comtb	561372 565370	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080799	sinonasal undifferentiated carcinoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga	791759	Danio rerio (zebrafish)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements