GlyCosmos Portal

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

Displaying entries **6451 - 6475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	Rai1	19377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	EEF2 NCAM1	1938 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	EEF2 KDM6A SLC7A5 STAT3 STAT4 STAT6	1938 6774 6775 6778 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	EEF2	1938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050905	inflammatory myofibroblastic tumor	Ranbp2	19386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060668	anencephaly	EFNA5 NUAK2 RPGRIP1L	1946 23322 81788	Homo sapiens (human)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	EFNB1	1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	DLL4 EFNB2 LUM MMP1 MMP9 PECAM1 VIM	1948 4060 4312 4318 5175 54567 7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	ALB EGF IGF1R	1950 213 3480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	EGF HNRNPA2B1 PSMC5 TNF VCP	1950 3181 5705 7124 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	EGF OSGEP	1950 55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	MEGF8	1954	Homo sapiens (human)	Alliance of Genome Resources
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	CAT CDC73 EGFR ERBB2 ERBB3 ERBB4 FOXL2 GPX1 MAP2K4 MLH1 MMP2 MSH2 PLCG1 RELA	1956 2064 2065 2066 2876 4292 4313 4436 5335 5970 6416 668 79577 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:571	median neuropathy	EGFR ERBB2 ERBB3 ERBB4 MT1E MT1H MT2A NRG1	1956 2064 2065 2066 3084 4493 4496 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	BMP4 CCL5 EGFR F11R IL13 IL5 PTGES TJP1 TNF	1956 3567 3596 50848 6352 652 7082 7124 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	EGR2 MPZ PMP22	1959 4359 5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	EGR2 SLC12A6	1959 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110150	Charcot-Marie-Tooth disease type 1D Aliases: CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112142	retinitis pigmentosa 85 Aliases: RP85	AHR	196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111910	spermatogenic failure Aliases: SPGF	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112336	spermatogenic failure 56 Aliases: SPGF56	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources

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