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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 **8676 - 8700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	Pomk	306549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	316091	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	497644	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2.L	444520	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	lilli	33496	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	Yars1	107271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atpalpha Ctl2 Rh5 Rh6 dysc nrv1 nrv2 scb wfs1	33952 33953 34615 36692 39533 41889 42679 43440 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atp1a1 Atp1b1 Clcnka Clcnkb Ednrb Eya4 F2 F5 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Ifng Il2 Itga2 Lnx1 Mbl2 Myh9 Myo1a Myo6 Ngf Opn4 Ptgds Scarb1 Slc12a2 Slc44a4 Slc7a14 Sod2 Strc Tecta Tmprss3 Tnf Wfs1	110557 11928 11931 12733 13618 140476 14051 14061 14067 140765 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15978 16183 16398 16924 17195 17886 17920 18049 19215 20496 20656 20778 21683 21926 22393 241919 30044 432516 56365 70129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atp1b1 Ednrb Ifng Il2 Ngf Opn4 Ptgds Scarb1 Slc44a4 Sod2 Tnf	116562 192223 24787 24835 25073 25526 25650 25712 294255 310738 50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	chtl-1 nkb-1 nkb-3 scav-3 tmc-1	176673 180809 181494 182726 188483	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ngf.S	108709389	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	APOE ATP1A1 ATP1B1 CAT DIAPH1 DNAAF4 DNAH17 DNAH9 EDNRB EYA4 F2 F5 GATA3 HLA-B HLA-DRB1 IFNG IL2 ITGA2 MBL2 MYH14 MYH9 MYO15A MYO1A MYO6 MYO7A NGF PSMC3 PTGDS SCARB1 SLC12A2 SLC44A4 SLC7A14 SLITRK6 SOD2 STRC TECTA TMPRSS3 TNF WFS1 WHRN	161497 161582 1729 1770 1910 2070 2147 2153 25861 2625 3106 3123 3458 348 3558 3673 4153 4627 4640 4646 4647 476 4803 481 51168 5702 5730 57709 64699 6558 6648 7007 7124 7466 79784 80736 84189 847 8632 949	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	BNI1 MMP1 PUT4 SAM3	850665 854530 855450 855854	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ngfb opn4.1 slc12a2 slc44a4	352918 393385 415170 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	Ret	24716	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	ret.S	373625	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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