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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 **4101 - 4125** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060668	anencephaly	EFNA5 NUAK2 RPGRIP1L	1946 23322 81788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	EPOR	2057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060651	MYH-9 related disease	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ELK3 ITGA9	2004 3680	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	IL1R1 IL1RN LPIN2 PSTPIP2	3554 3557 9050 9663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	ABCB4 CFTR DNASE1 GNRHR HLA-DQB1 KRT18 TNF VEGFA	1080 1773 2798 3119 3875 5244 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	COL7A1 GRIP1	1294 23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	DDX17 DDX5 GUCY2C LEP NEIL1 PPARG PPARGC1A SIRT3 SLC2A9	10521 10891 1655 23410 2984 3952 5468 56606 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	SERPINF2	5345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060599	Nance-Horan syndrome	NHS	4810	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

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