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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 **3401 - 3425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080631	Elsahy-Waters syndrome Aliases: branchioskeletogenital syndrome	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:303	substance-related disorder	CDH13 FASLG GSK3B HTR2C KCNMA1 KCNU1 PTEN SLC18A2	1012 157855 2932 3358 356 3778 5728 6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	CDH16	1014	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Aliases: EEM syndrome EEMS ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	CDHR1	92211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	CDK13	8621	Homo sapiens (human)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	CDK5 GABRG1	1020 2565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112231	lissencephaly 7 with cerebellar hypoplasia Aliases: LIS7	CDK5	1020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070286	primary autosomal recessive microcephaly 3 Aliases: MCPH3	CDK5RAP2	55755	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050593	primary congenital glaucoma	CDK7	1022	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112221	developmental and epileptic encephalopathy 87 Aliases: DEE87 early infantile epileptic encephalopathy 87	CDK8	1024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	CDKL5	6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	CDKN1B CHGA DMBT1 HSD17B10 L1CAM RET SDHA SDHB	1027 1113 1755 3028 3897 5979 6389 6390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	CDKN1B DLST SDHA SDHAF2 SDHB SDHC SDHD SLC25A11	1027 1743 54949 6389 6390 6391 6392 8402	Homo sapiens (human)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	CDKN1B GHRL GHSR	1027 2693 51738	Homo sapiens (human)	Alliance of Genome Resources

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