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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 **11926 - 11950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112367	Coffin-Siris syndrome 8 Aliases: CSS8	SMARCC2	6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	PHKA1	5255	Homo sapiens (human)	Alliance of Genome Resources
DOID:1561	cognitive disorder Aliases: cognitive disease	APOC3 APP BDNF CHRFAM7A CHRNA7 COMT CSF3 DBN1 DMD EPHB2 GRIN1 GRIN2A GRIN2B HTR7 IL4 IRAK1 LAMP2 MAPT MMP3 MMP9 PPARG	1139 1312 1440 1627 1756 2048 2902 2903 2904 3363 345 351 3565 3654 3920 4137 4314 4318 5468 627 89832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110599	primary ciliary dyskinesia 3 Aliases: CILD3 primary ciliary dyskinesia 3 with or without situs inversus	DNAH5	1767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2	23404	Homo sapiens (human)	Alliance of Genome Resources
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL	178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080062	autosomal recessive spinocerebellar ataxia 13 Aliases: SCAR13	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CIITA CLEC16A HLA-DQB1 HLA-DRB1	23274 3119 3123 4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060811	syndromic X-linked intellectual disability Turner type Aliases: Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type	HUWE1	10075	Homo sapiens (human)	Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	ACE ANK1 APC BMP6 EPO EPOR G6PD GDF15 GPX1 HBB HK1 IL10 IREB2 PON1 SLC11A2 SLC4A10 SLC4A11 SLC4A1 SLC4A2 SLC4A4 SLC4A5 SLC4A7 SLC4A8 SLC4A9 TF TNF TNFRSF1A VCAM1	1636 2056 2057 2539 286 2876 3043 3098 324 3586 3658 4891 5444 57282 57835 6521 6522 654 7018 7124 7132 7412 83697 83959 8671 9497 9498 9518	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ABCC8 AGTR2 AKT2 CDK7 CYP2C9 EPO GCK GLUD1 GRIN2B PPP1R3A PRL UCP3	1022 1559 186 2056 208 2645 2746 2904 5506 5617 6833 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111279	psoriasis 7 Aliases: PSORS7	IL23R	149233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	CACNA1A CACNA1B CACNA1E PITRM1 SCYL1	10531 57410 773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:8161	thyroid gland Hurthle cell carcinoma Aliases: oncocytic carcinoma of the thyroid	TIMM44	10469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060370	Parkinson's disease 7 Aliases: autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7	PARK7	11315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DBH HSPA5 SLC6A2 SLC6A3	1621 3309 6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	MUC1 MUC2 MUC4 MUC5AC MUC6 ZFHX3	4582 4583 4585 4586 4588 463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources

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