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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 **151 - 175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	ATM CHEK2 CTCF MAST1 PALB2 POLH	10664 11200 22983 472 5429 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	OPN1LW OPN1MW2 OPN1MW3 OPN1MW	101060233 2652 5956 728458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050680	Boomerang dysplasia	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 CHRM3 IKZF3 IL6 RB1 TERT TNF WIF1	1116 11197 1131 22806 3569 5925 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050686	organ system cancer	IL1R2	7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050689	brachydactyly-syndactyly syndrome	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	AGER FAS IL6 LTA MBL2 MMP9 TGFB1 TNF TREM1	177 355 3569 4049 4153 4318 54210 7040 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ACSL1 ADAM10 ADIPOQ AMN ASAH2 ATP5F1B BAG3 CASR CCL2 COL15A1 COL18A1 CXCR4 DES DGAT1 DOC2B DTNA EGFR ELAC2 EP300 ERBB2 ERBB3 ERBB4 GOT1 HDAC3 HFE HRAS IFNG IGF1R ITGA7 JPH1 JPH4 JUND JUP KLK1 KRAS LDB3 LEMD2 LRP1 MIF MLYCD MMP2 MMP9 MYH15 MYH1 MYH7 NCAM1 NONO NOS1 NOS3 NRAS PDLIM5 PDLIM7 POMT1 PPARGC1A PPP3CA RAF1 RRAGC SDHA SGCD SGCG SGCZ SLC22A5 SLC31A1 SLC4A1 SOD2 SPARC SPARCL1 SPHK1 SPHK2 SRF TAB2 TNF TNNI3 TSHR UTS2R	102 10585 10611 10891 11155 1306 1317 137868 1674 1837 1956 2033 2064 2065 2066 2180 221496 22989 23118 23417 2805 2837 3077 3265 3458 3480 3679 3727 3728 3816 3845 4035 4282 4313 4318 4619 4625 4684 4841 4842 4846 4893 506 5530 56624 56704 56848 5894 60528 6347 6389 64121 6444 6445 6521 6584 6648 6678 6722 7124 7137 7253 7852 80781 81693 8404 8447 84502 846 8694 8841 8877 9260 9370 9531	Homo sapiens (human)	Alliance of Genome Resources
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

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