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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 **11551 - 11575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050593	primary congenital glaucoma	CDK7	1022	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050610	oral cavity carcinoma in situ	NUF2	83540	Homo sapiens (human)	Alliance of Genome Resources
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:8867	molluscum contagiosum	TLR2	7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110801	hereditary spastic paraplegia 49 Aliases: SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49	TECPR2	9895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	SIN3A	25942	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:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS	35	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110607	primary ciliary dyskinesia 28 Aliases: CILD28 primary ciliary dyskinesia 28 with or without situs inversus	SPAG1	6674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050654	Baller-Gerold syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	ASPH ATXN2 ATXN2L CDIPT DOC2B KIF3C PAGR1 PPP4C TAOK1 TAOK2 TBX6	10423 11273 3797 444 5531 57551 6311 6911 79447 8447 9344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080386	nephrotic syndrome type 10	EMP2	2013	Homo sapiens (human)	Alliance of Genome Resources
DOID:9976	heroin dependence	ABAT ABCB1 ACHE ADRA1A ALDH2 BCHE BDNF CHRM2 COMT CREB1 CYP2B6 CYP2C19 DRD1 DRD2 DRD3 DRD4 FAS FOSB GABBR1 GABRB3 GABRG2 GAD1 GAD2 GDNF GRIA1 GRIN2A GRM2 HTR3A NGF NPY1R OPRD1 OPRK1 OPRM1 POMC SLC6A3	1129 1312 1385 148 1555 1557 18 1812 1813 1814 1815 217 2354 2550 2562 2566 2571 2572 2668 2890 2903 2912 3359 355 43 4803 4886 4985 4986 4988 5243 5443 590 627 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	LAS1L	81887	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080472	developmental and epileptic encephalopathy 91 Aliases: infantile or early childhood epileptic encephalopathy 1	PPP3CA	5530	Homo sapiens (human)	Alliance of Genome Resources
DOID:4247	coronary restenosis	BCHE CDH13 CXCR3 ITGB2 LOX MBL2 MYC NPY5R SPP1 TNF TP53 UCP3	1012 2833 3689 4015 4153 4609 4889 590 6696 7124 7157 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:6432	pulmonary hypertension	ACE2 ACVRL1 ADM AGER AGT AGTR1 AHR ALAS1 ALOX5 ANGPT1 ANGPT2 ATP5F1A BDKRB2 BMPR1A BMPR1B BMPR2 CASR CAVIN1 CCDC80 CCL2 CCL5 CCN2 CD209 CD28 CD40 CD40LG CD86 CDH5 CDKN1B CLU COL1A1 COL4A1 CSF3 CTNND1 CX3CL1 CXCR4 CYBB CYP1A1 CYP2J2 CYSLTR1 ECE1 EDN1 EDN2 EDNRA EDNRB EGFR EGR1 EPAS1 EPHX2 EPO ESR1 F5 FGFR1 GATA4 GPR182 HAS1 HAS2 HAS3 HDAC1 HDAC2 HDAC3 HDAC4 HIF1A HK1 HMGB1 HMGCR HP HYAL1 HYAL2 ICAM1 IFNGR1 IL10 IL13 IL13RA1 IL13RA2 IL1RN IL23R IL6 KCNK3 LCN2 MIF MMP1 MMP9 MTOR MYC NAMPT NFATC2 NOS2 NOS3 NOX1 NPPA NPPB PDE3A PDE5A PDGFA PDGFB PDIA3 PECAM1 PGF PTGIS PTGS2 PTK2 RAMP2 RELA RHOA RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SLC1A5 SLC2A4 SLC6A4 SLC8A1 SMAD4 SMAD6 SMPD3 TACR1 TACR2 TEK TERT TGFB1 TGFBR1 TGFBR2 THBD THPO TNC TNF TP53BP1 TRPC3 TRPC6 TWIST1 VCAM1 VEGFB VIM VWF	1003 10135 10266 1027 10800 11318 1191 1277 1282 133 1440 1490 149233 1500 151887 1536 1543 1573 177 183 185 1889 1906 1907 1909 1910 1956 1958 196 2034 2053 2056 2099 211 2153 2260 240 2475 2626 27035 284 284119 285 2923 3036 3037 3038 3065 3066 30835 3091 3098 3146 3156 3240 3371 3373 3383 3459 3557 3569 3586 3596 3597 3598 3777 387 3934 4089 4091 4282 4312 4318 4609 4773 4843 4846 4878 4879 498 5054 5139 5154 5155 5175 5228 5265 55512 5740 5743 5747 59272 5970 624 6261 6262 6263 6347 6352 6376 6510 6517 6532 6546 657 658 659 6865 6869 7010 7015 7040 7046 7048 7056 7066 7124 7158 7222 7225 7291 7412 7423 7431 7450 7852 846 8654 8692 8841 94 940 942 958 959 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060545	Hermansky-Pudlak syndrome 7	DTNBP1	84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources

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