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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 **9351 - 9375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	GLI3 SHH	2737 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080328	Culler-Jones syndrome	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	GLI2 NOG SHH	2736 6469 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	GLI1 PTCH1 SHH SMO	2735 5727 6469 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GLG1 GPH1 GSY1 GSY2 PFK1 PFK2 VVS1	850569 850962 852543 853155 853932 855245 856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GLG1 GLG2	853304 853932	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060559	lethal congenital contracture syndrome 1 Aliases: LCCS1 multiple contracture syndrome, Finnish type	GLE1	851320	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	GLC3	856705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GLC3	856705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	GLC3 SMF3 STE6	850721 853671 856705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110796	hereditary spastic paraplegia 44 Aliases: SPG44 autosomal recessive spastic paraplegia 44	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC Aliases: LMPH1C	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources

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