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 **226 - 250** of **4649** in total

« First

‹ Prev

…

6

7

8

9

10

11

12

13

14

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	DOCK8 HLA-DQB1 HLA-DRB1 IL10 IL2 MAGT1 MBL2 RELA RELB SDC4 SLC35A2 TUSC3	3119 3123 3558 3586 4153 5970 5971 6385 7355 7991 81704 84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050754	ataxia with oculomotor apraxia type 1	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TEK TG	7010 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110482	autosomal recessive nonsyndromic deafness 24 Aliases: DFNB24 autosomal recessive deafness 24	RDX	5962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	NDRG1	10397	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	APC AURKB BSG CD82 CDH13 ERAP1 FGF7 GRB2 GSK3B HDAC3 HRAS JUN MMP8 MMP9 NCOA1 NCOR2 NOS3 POLE PRKCA PTGS1 PTK2 RUNX3 SFN SMAD4 SPARC TFF1 TIMP1 TP53 WNT2 WNT4 WNT5A	1012 2252 2810 2885 2932 324 3265 3725 3732 4089 4317 4318 4846 51752 5426 54361 5578 5742 5747 6678 682 7031 7076 7157 7472 7474 864 8648 8841 9212 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070121	Meckel syndrome 7 Aliases: MKS7 Meckel-Gruber syndrome, type 7	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	CD163 IL3	3562 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	COMP	1311	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:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	SLC45A2	51151	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:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	GABRG2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SLC32A1	11280 140679 2566 6323 6324 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080365	endometrial hyperplasia	CA9 CDC25B JUP KRAS PTK2 SKP2 TFF1	3728 3845 5747 6502 7031 768 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	BAD BAX EPAS1 MDM2 SIRT2	2034 22933 4193 572 581	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

Guidelines

International Collaboration

Acknowledgements