GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2926 - 2950** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	SMARCD1	6602	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112373	autosomal dominant auditory neuropathy 3 Aliases: AUNA3	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	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	84892	Homo sapiens (human)	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	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	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: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:1002	endometritis	CASP6 CASP7 CASP9 IL1A	3552 839 840 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:10021	duodenum cancer Aliases: Duodenal cancer cancer of duodenum duodenal neoplasm	POLE	5426	Homo sapiens (human)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	ATP1A2 CACNA1A DBH DRD2	1621 1813 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	IL4 PTX3	3565 5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	FOS NOS2 PIGB	2353 4843 9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2M BCHE IL4	2 3565 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:10123	pigmentation disease	ASIP ELN HERC2 IRF4 KITLG MC1R MMP9 OCA2 SLC24A4 SLC45A2 TPCN2 TYR TYRP1	123041 2006 219931 3662 4157 4254 4318 434 4948 51151 7299 7306 8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:10124	corneal disease	CD86	942	Homo sapiens (human)	Alliance of Genome Resources
DOID:10126	keratoconus Aliases: conical cornea	BDNF BMP4 FGA HGF IL1A IL1RN KERA MMP2 PON1	11081 2243 3082 3552 3557 4313 5444 627 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ANXA1 AQP5 CCR5 FAR2 IL10 IL1RN IL6 MUC16 MUC1 MUC5AC PLTP SOD1 TLR2 TLR4	1234 301 3557 3569 3586 362 4582 4586 5360 55711 6647 7097 7099 94025	Homo sapiens (human)	Alliance of Genome Resources

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