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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 **10526 - 10550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	Ptgs2	19225	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	Rnaset2a Rnaset2b	100037283 68195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081051	microcephaly, growth deficiency, seizures, and brain malformations	Wdr4	57773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	Manba	110173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4398	pustulosis of palm and sole Aliases: Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles	Lta Tnf	16992 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	Rspo2	239405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	F12	58992	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	Tfr2	50765	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	Gp1ba Gp1bb Gp9 Vwf	14723 14724 22371 54368	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexb	15212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	Arl3	56350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	Serpinh1	12406	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	Cacng6 Cysltr2 H2-Aa H2-Ab1 H2-Eb1 Il4 Ptgs2 Tbxa2r	14960 14961 14969 16189 19225 21390 54378 70086	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	Als2 Aqp4 Atp13a2 Atp13a3 Atp13a5 C3 C5ar1 Casp9 Dctn1 Dpp6 Epo Ewsr1 Fus Gdnf Got1 Grn Gsk3a Gsk3b Hdac4 Hmgb1 Igf1r Igf2r Itih4 Kdr Lcn2 Map4 Mapt Mmp1a Mmp2 Mmp9 Mstn Nefh Nefl Nefm Nfe2l2 Pgf Pon2 Pon3 Ppargc1a Psmc5 Ptgs2 Ptprz1 Sarm1 Serpinf1 Slc11a2 Slc1a2 Sod1 Sod3 Sqstm1 Txnrd1 Ubqln2 Ubqln4 Unc13a Vapa Vegfa	11829 12266 12273 12371 13191 13483 13856 14030 14573 14718 14824 15289 16001 16004 16427 16542 16819 17390 17395 17700 17758 17762 18024 18039 18040 18174 18412 18654 19017 19184 19225 19283 20317 20511 20655 20657 208727 22339 224088 233908 237868 268878 269823 30960 330260 380684 382018 50493 54609 56637 606496 74018 74772 83995 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency Aliases: THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	Abcb1a Abcb1b Abce1 C3 Ccl11 Ccl2 Ccr5 Cd163 Cd209a Cd209b Cd209c Cd209d Cd274 Cd40 Cd40lg Cd68 Cxcr1 Ephb2 Fas Fcgr4 Gc H2-Aa H2-Ab1 H2-D1 H2-Ea H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Ifng Il10 Il15 Il21 Il21r Il27 Kmt2e Lepr Mbl2 Mki67 Nefl Nefm Oprm1 Pdcd1 Plaur Ppia Prf1 Ptgs2 Selp Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Tlr3 Tnf Trem1	100504404 110557 12266 12514 12774 13844 14102 142980 14473 14960 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15978 16153 16168 16847 170776 170779 170786 17195 17345 18039 18040 18390 18566 18646 18669 18671 18793 19225 20292 20296 20344 20700 20701 20702 20703 20704 21926 21939 21947 227288 24015 246256 246779 268373 58217 60504 60505 60533 69165 69188 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10811	nasal cavity cancer Aliases: malignant neoplasm of nasal cavities malignant tumor of the nasal cavity	Sox2 Trp53	20674 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	Ank2 Kcne1 Kcne2 Kcnh2 Kcnh7 Kcnq1 Kcnq2 Kcnq3 Scn5a	109676 110862 16509 16511 16535 16536 170738 20271 246133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	Gabrd	14403	Mus musculus (house mouse)	Alliance of Genome Resources

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