GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9501 - 9525** of **15957** in total

« First

‹ Prev

…

377

378

379

380

381

382

383

384

385

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111512	metachondromatosis Aliases: METCDS	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:8476	Whipple disease Aliases: Whipple's disease intestinal lipodystrophy	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111447	progressive myoclonus epilepsy 7 Aliases: EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7	KCNC1	3746	Homo sapiens (human)	Alliance of Genome Resources
DOID:9240	erythromelalgia Aliases: erythermalgia	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	SLC9A3	6550	Homo sapiens (human)	Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABCG2 ACE ALB APOE B2M CBL CCN1 CD40 CD40LG CD46 CD86 CFHR1 CHI3L1 CTLA4 CYP1A1 CYP2C19 DSG2 ENG EXOSC2 FASLG FCGR2A FGG FLT3LG FTO GPX1 GPX3 HFE HK1 ICAM1 IGF2R IL10 IL1A IL1RN IL4R IRF4 KRAS MEFV MET MTR NONO NOTCH2 NOX1 NRAS PON1 RANBP2 ROBO1 SOD2 SPARC SPP1 TERT TFRC TGFB1 TNF TNFRSF10A TNFRSF17 TP53 TYMS VEGFA XPO5 XRCC5	1116 1493 1543 1557 1636 1829 2022 213 2212 2266 2323 23404 27035 2876 2878 3077 3078 3098 3383 348 3482 3491 3552 3557 356 3566 3586 3662 3845 4179 4210 4233 4548 4841 4853 4893 5444 567 57510 5903 608 6091 6648 6678 6696 7015 7037 7040 7124 7157 7298 7422 7520 79068 867 8797 942 9429 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:12574	posterior uveitis Aliases: Uveitis, posterior	CCL5 CCR2 CCR5 CFH	1234 3075 6352 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	AFF4 AGT BRCA2 CCL2 CD40 CHAF1B CTCF DDR1 FANCD2 GRM1 HIF1A ICAM1 MMP1 MMP2 MMP9 OCA2 PDCD4 STAT3 TYR	10664 183 2177 27125 27250 2911 3091 3383 4312 4313 4318 4948 6347 675 6774 7299 780 8208 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:591	phobic disorder	HRAS MED12	3265 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	FGFRL1 LETM2 NSD2	137994 53834 7468	Homo sapiens (human)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 COX4I2	4512 84701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	ATP4B	496	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060496	respiratory allergy Aliases: airway allergy	F2RL1 IL13 MBL2 NOS2 NOS3 TLR4	2150 3596 4153 4843 4846 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050789	tarsal-carpal coalition syndrome	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	C5	727	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements