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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 **10076 - 10100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Ctnnb1 Elp1 Gpr161 Ifng Pdgfra Ptch1 Ptch2 Smo Trp53	12387 15978 18595 19206 19207 22059 230233 240888 319757	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	Mbtps2	270669	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	Myo6	17920	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	50798	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	Acox2	93732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	Foxp1 Foxp3	108655 20371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	Fcgr2b Fcgr3 H2-Ab1 Icos Il21r Mbl2 Pecam1	14130 14131 14961 17195 18613 54167 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	Amh Ctnnb1 Fshr Kit Lhcgr Ptgs2 St14 Vegfa	11705 12387 14309 16590 16867 19143 19225 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Abcb11 Abcb1b Abcb4 Abcc2 Abcc3 Abcg5 Abcg8 Ace Adamts13 Aldh1l1 Apoc3 Cd14 Cd44 Cftr Clock Col1a1 Cp Eng G6pd2 G6pdx Hp Il1a Il4 Lamp2 Maob Mmp2 Nos3 Pdgfb Prkaa1 Pygm Slc10a1 Slco1a4 Slco1b2 Timp1 Tjp1	105787 107747 109731 11421 11814 12475 12505 12638 12753 12780 12842 12870 13805 14380 14381 15439 16175 16189 16784 17390 18127 18591 18669 18670 19309 20493 21857 21872 27409 27413 279028 28250 28253 67470 76408	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	Ep300	328572	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	Abl1 F13a1 F3 Flt3 Myb Stat5a Tfpi Tnfsf13 Trp53	11350 14066 14255 17863 20850 21788 22059 69583 74145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:431	myofascial pain syndrome	Ngf Ntrk1	18049 18211	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	Ecm1	13601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	Fzd4	14366	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	Rps14	20044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	80903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080719	congenital myopathy 6 Aliases: inclusion body myopathy 3 proximal myopathy and ophthalmoplegia	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	Sec23b	27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome Aliases: DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5	Ltbp3	16998	Mus musculus (house mouse)	Alliance of Genome Resources

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