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 **9201 - 9225** of **15957** in total

« First

‹ Prev

…

365

366

367

368

369

370

371

372

373

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:9409	diabetes insipidus	AQP2 AVP HAS2	3037 359 551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111945	immunodeficiency 31A Aliases: IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 CAMK2A CAMK2B CAMK2D CAMK2G ETNK1 ETNK2 KCNH2 KCNH6 KCNH7 KCNK10 KCNK17 KCNK18 KCNK2 KCNK4 KCNK5 KCNK7 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNU1 MME MMEL1 PHEX PYGO2 SLC6A2 SREBF1 SREBF2	10089 157855 338567 3757 3776 3778 3785 3786 4311 50801 5251 54207 55224 55500 55799 56479 6530 6720 6721 79258 81033 815 816 817 818 8645 89822 90134 90780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	TACR3	6870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	TARS1 TARS2 TARS3	123283 6897 80222	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	ABCG2 ALAS1 CLPX UROS	10845 211 7390 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ATM ATR BAX HDAC4 IFNG IL2 IL6	3458 3558 3569 472 545 581 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111727	geleophysic dysplasia 3 Aliases: GPHYSD3	LTBP3	4054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080299	partial lipodystrophy	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	TLR6	10333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080663	atrial standstill 2	NPPA	4878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1PR2	9294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110909	inflammatory bowel disease 25 Aliases: IBD25 early onset autosomal recessive inflammatory bowel disease 25	IL10RB	3588	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050557	congenital muscular dystrophy	COL6A1 COL6A3 DYNC1H1 LMNA LMNB1 LMNB2	1291 1293 1778 4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111478	combined oxidative phosphorylation deficiency 20 Aliases: COXPD20	VARS1	7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:12986	leukostasis	ACE SERPINF1	1636 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2 TNS2	23371 3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD2	1106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	BIN1	274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	APP	351	Homo sapiens (human)	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