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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4476 - 4500** of **5716** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080661	nonsyndromic aplasia cutis congenita	BMS1	9790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080079	nonsyndromic congenital nail disorder 1 Aliases: nonsyndromic congenital nail disorder 10 twenty-nail dystrophy	FZD6	8323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	RSPO4	343637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10b Wfs1	22393 380959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	Cwh43	231293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	CFAP43	80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080170	normophosphatemic familial tumoral calcinosis	SAMD9	54809	Homo sapiens (human)	Alliance of Genome Resources
DOID:13963	nuclear senile cataract Aliases: Senile nuclear cataract Senile nuclear sclerosis	FTO	79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	NDUFAF2	91942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	Acad9	229211	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACAD9	28976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112091	nuclear type mitochondrial complex I deficiency 34 Aliases: MC1DN34	NDUFAF8	284184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112066	nuclear type mitochondrial complex I deficiency 6 Aliases: MC1DN6	NDUFS2	4720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources
DOID:9970	obesity	ABCA1 ABCG8 ADRB2 ADRB3 AGT APOD AR BBS2 CADM2 CAPN10 CCKAR CNR1 COMT CPE CRHR1 CYP27B1 CYP2R1 DRD2 EDN1 ENPP1 F7 FTO GFPT1 GHRL GHSR GIPR GLP1R GNAS HFE HK1 HK2 HSD11B2 HSPA1B HTR2A HTR2C IGFBP2 IGFBP6 IL6 IL6R INPPL1 LEPR MBL2 MC3R MC4R MIF NCOA3 NMB NMU NPPB NPY2R NPY5R NR1H3 NR3C1 OPRM1 PCSK1 PDP1 PGR PLIN1 POMC PPARG PPARGC1B SDC3 SERPINF1 SLC2A1 SLC6A14 SLC6A3 SOCS3 SORBS1 STAT3 UCP2 UCP3 WNT10B	10062 10580 10874 11132 11254 120227 1268 1312 133522 1363 1394 154 155 1594 1813 183 19 1906 2155 253559 2673 2693 2696 2740 2778 2908 3077 3098 3099 3291 3304 3356 3358 347 3485 3489 3569 3570 3636 367 3953 4153 4159 4160 4282 4828 4879 4887 4889 4988 5122 5167 51738 5176 5241 5346 5443 5468 54704 583 64241 6513 6531 6774 7351 7352 7480 79068 8202 886 9021 9672	Homo sapiens (human)	Alliance of Genome Resources
DOID:9970	obesity	PK1-R PlexB Stim ds fj ft gbb sdk wg	31017 32556 33245 33627 34009 37089 37778 41713 43766	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9970	obesity	Alms1 Angptl6 Cpe Gpr12 Gucy2c Kdm3a Lep Lepr Mc3r Mc4r Ncoa1 Neil1 Npy1r Pcsk1 Pomc Prkci Snap25 a	104263 12876 14738 14917 16846 16847 17201 17202 17977 18166 18548 18759 18976 20614 236266 50518 70726 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9970	obesity	eif-6 glp-1 gon-1	173169 176286 177850	Caenorhabditis elegans	Alliance of Genome Resources

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