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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 **8976 - 9000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	Crb2	241324	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	Fzd2	57265	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2 Igfals Igfbp3 Pmm1 Pmm2	16002 16005 16009 29858 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:559	acute pyelonephritis	Cxcr2 Rbp4	12765 19662	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	20273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	Gbe1	74185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Abca4 Bad Bax Bmp4 C2 C3 Cacng3 Ccl2 Cd36 Cfb Cfh Cfhr4 Cfi Cryab Efemp1 Esr1 Fas Gsr Hspa8 Il17a Kdr Mmp2 Mmp9 Nfe2l2 Pon1 Ppargc1a Prph2 Serpinf1 Serping1 Sod1 Srsf10 Tlr4	11304 12015 12028 12159 12258 12263 12266 12491 12628 12630 12955 13982 14102 14105 14782 14962 15481 16171 16542 17390 17395 18024 18979 19017 19133 20296 20317 20655 214403 216616 21898 54376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	Kremen1	84035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Abcb1b Abcc2 Abcc3 Abcg5 Abcg8 Acaca Acacb Acadm Acadvl Actb Adamts13 Adipoq Adrb3 Ahcy Ahcyl Akt1 Aldh2 Atp5f1a Azgp1 Ccl2 Cd163 Col1a1 Dgat2 Ezh2 Fasn Foxo1 Fto G6pd2 G6pdx Gpt Gsr Hadha Hfe Hmgcr Hp Ifna11 Ifna12 Ifna13 Ifna16 Ifna1 Ifna4 Ifna9 Igf1r Igfbp7 Il10 Il13 Il1rn Insr Irs1 Irs2 Krt18 Lep Lepr Lpl Mlxipl Mlycd Nampt Nfe2l2 Pla2g7 Plin1 Plin2 Plin3 Pnpla3 Pon2 Ppargc1a Sidt2 Sirt2 Sirt4 Sirt6 Slc7a3 Sod2 Srebf1 Stat3 Tfrc Tg Tlr4 Tlr9 Tnf Ubr2 Ucp2	100705 103968 107476 11364 11370 11450 11461 11520 11556 11615 11651 11669 116939 11946 11989 12007 12780 12842 14056 14104 14380 14381 14782 15216 15357 15439 15962 15964 15967 15972 16001 16153 16163 16181 16337 16367 16668 16846 16847 16956 18024 18669 19017 20296 20656 20787 20848 214597 21819 21898 21926 22042 22228 224826 230396 230398 242519 26383 269378 27226 27409 279028 29817 330260 384783 50721 56458 56690 58805 59027 64383 66905 67470 67800 75387 76282 76408 81897 93671 97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	Evc Gata4 Igf2 Mmp9 Sall4 Tbx20	14463 16002 17395 57246 59056 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070357	nephrotic syndrome type 20	Tbc1d9 Tbc1d9b	71310 76795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9588	encephalitis	Il1rn Mbp Rela Tnf	16181 17196 19697 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	Btk Lrrc8a	12229 241296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	Sdhc	66052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	Adipoq Anxa5 Apoc3 Bdh1 Cp Cs Csl Ctsl Gpx1 Gsr H2-Ab1 Igf1r Il10 Nr1d1 Pcsk1 Ppargc1a Serpina7 Slc34a1 Slc9a1 Sod1 Tshr Ugt1a1 Vim	11450 11747 11814 12870 12974 13039 14775 14782 14961 16001 16153 18548 19017 20505 20544 20655 217166 22095 22352 331535 394436 71832 71911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8506	bullous pemphigoid	F2 Icam1 Il2 Vegfa	14061 15894 16183 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090135	complex cortical dysplasia with other brain malformations 5 Aliases: CDCBM5	Tubb2a	22151	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	Bmp4 Eif4ebp1 Mmp9 Tsc1	12159 13685 17395 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	Amh Amhr2	110542 11705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	Cftr Mbl2 Mmp9 Tnf	12638 17195 17395 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	Bmpr1a	12166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Adrb2 Anxa5 Apoc3 Aqp3 Arsa Atp2a2 Bad Bdnf Col1a2 Col2a1 Cs Csl Dpysl2 Duox1 Entpd1 F7 Foxp3 Gpx1 Grk3 Gsn H2-Ab1 H2-Eb1 Ifng Il10 Il4 L1cam Lipc Map1a Map1b Mbp Mstn Myh6 Myh7 Ncam1 Ncoa1 Nefh Nefl Nefm Ngf Nos3 Nr1d1 Pam Pcna Pcsk1 Phka1 Plod1 Plod2 Plod3 Pnpla3 Reln Serpina7 Shh Slc26a5 Slc2a1 Slc34a1 Slc9a1 Sod1 Sod2 Tg Thbd Tomm70a Ucp2 Wnt3a	11555 116939 11747 11814 11828 11883 11938 12015 12064 12495 12824 12843 12934 12974 14068 140781 14775 14961 14969 15450 15978 16153 16189 16728 17196 17700 17754 17755 17888 17967 17977 18039 18040 18049 18127 18484 18538 18548 18679 18822 19699 20371 20423 20505 20525 20544 20655 20656 217166 21819 21824 22228 22416 227753 26432 26433 28185 320129 331535 380684 71832 80979 99439	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	Jag1 Notch2	16449 18129	Mus musculus (house mouse)	Alliance of Genome Resources

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