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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 **9476 - 9500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050912	colon adenoma	Rbp4 Tet2	19662 214133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	Rbp3	19661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080297	Coffin-Siris syndrome 6	ARID2	196528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANO6	196527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	Robo1 Robo2 Robo3 Slc25a10 Slc6a1 Vars1	19649 19876 22321 232333 268902 27376	Mus musculus (house mouse)	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
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112142	retinitis pigmentosa 85 Aliases: RP85	AHR	196	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: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: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: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: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: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: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: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:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	MEGF8	1954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	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: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:0050782	Zollinger-Ellison syndrome	ALB EGF IGF1R	1950 213 3480	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

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