GlyCosmos Portal

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

Displaying entries **6726 - 6750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	IGF1R MET MGMT SLC2A2	3480 4233 4255 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ADIPOQ ADRB2 BTNL2 C4A C4B CAT CD40 CD40LG CTLA4 CYP1A1 DNMT1 FAS GC HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB3 ICAM1 IFNG IGF1R IL10 IL13 IL17A IL23R IL2 IL3 IL6 IL6R ITGB3 LTA OGG1 SERPINE1 SLC25A16 TG TNF TP53 TSHR VEGFA	149233 1493 154 1543 1786 2638 3106 3117 3119 3123 3125 3383 3458 3480 355 3558 3562 3569 3570 3586 3596 3605 3690 4049 4968 5054 56244 7038 7124 7157 720 721 7253 7422 8034 847 9370 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	PCCA PCCB	5095 5096	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	HNRNPA1 HNRNPA3 HNRNPAB HNRNPD MSI1	220988 3178 3182 3184 4440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	TENM4	26011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	CACNA1G	8913	Homo sapiens (human)	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	GPER1 HTR1A HTR1B HTR1D HTR1E HTR2B NR3C1 SLC6A4 ZNF462	2852 2908 3350 3351 3352 3354 3357 58499 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	SPAST	6683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1	2683	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	TPRN	286262	Homo sapiens (human)	Alliance of Genome Resources
DOID:2959	hyperimmunoglobulin syndrome	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	AVPR1B USP8	553 9101	Homo sapiens (human)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	AQP1 AQP4 F2 F5 IL6 ITGA2 MMP2 NRP1 PON1 SERPINE1 SERPINF1 VEGFA VEGFB	2147 2153 3569 358 361 3673 4313 5054 5176 5444 7422 7423 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE2 NRG1	3084 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TRPA1	8989	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:11382	corneal neovascularization	FLT1 IL1RN ITGAV MUC4 SERPINF1 TNFAIP6	2321 3557 3685 4585 5176 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6V1E1	529	Homo sapiens (human)	Alliance of Genome Resources

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