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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 **4201 - 4225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TFR2	7036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	TFG	10342	Homo sapiens (human)	Alliance of Genome Resources
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	TFF1	7031	Homo sapiens (human)	Alliance of Genome Resources
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	TFF1 TFRC TP53	7031 7037 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080337	mitochondrial DNA depletion syndrome 15	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	TF	7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	TENM4	26011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TEK TG	7010 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110801	hereditary spastic paraplegia 49 Aliases: SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49	TECPR2	9895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	TEAD1	7003	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111913	spermatogenic failure 30 Aliases: SPGF30	TDRD9	122402	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110247	cataract 36 Aliases: CATC4 CTRCT36 autosomal recessive congenital cataract 4	TDRD7	23424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1 Aliases: SCAN1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 spinocerebellar ataxia with axonal neuropathy type 1	TDP1	55775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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