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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 **4401 - 4425** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	Acp3 Ctnnb1 Kras Tgfbr2	12387 16653 21813 56318	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	Ror2	26564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	Rho	212541	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	Ldb1	16825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	Ildr1	106347	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11044	gastroschisis	Lrp1	16971	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110828	Usher syndrome type 3 Aliases: USH3	Clrn1	229320	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	Lrp2	14725	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12387	nephrogenic diabetes insipidus	Aqp2 Aqp3 Avpr2 Clcnka Grn	11827 11828 12000 12733 14824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	Gpr179	217143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	Fras1 Frem1 Frem2 Grip1	231470 242022 329872 74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	Abcd3	19299	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	Scn3b	235281	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	Slc9a6	236794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	Lamb2 Tns2	16779 209039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	Grm6	108072	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: AR-PKD	Arl3 Pkd1 Pkhd1 Tsc1	18763 241035 56350 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	Lcat	16816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2229	factor XI deficiency Aliases: Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency	F11	109821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	Mstn	17700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	Kras Myc	16653 17869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	Dmp1	13406	Mus musculus (house mouse)	Alliance of Genome Resources

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