GlyCosmos Portal

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

Displaying entries **7901 - 7925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110361	retinitis pigmentosa 75 Aliases: RP75	AGBL5	60509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070038	autosomal dominant intellectual developmental disorder 8 Aliases: MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080329	cold-induced sweating syndrome 1	CRLF1	9244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110918	hereditary spherocytosis type 3 Aliases: HS3 SPH3 hereditary spherocytosis 3	SPTA1	6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050905	inflammatory myofibroblastic tumor	RANBP2	5903	Homo sapiens (human)	Alliance of Genome Resources
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ABCC8 AQP1 AQP3 AQP4 AVPR1A C5 CACNA1B CP DMD F2 F2R GFAP ICAM1 KCNN4 MMP9 PLAT PLAU SCN3B SERPINE2 SERPINF1 SOD2 VEGFA	1356 1756 2147 2149 2670 3383 358 360 361 3783 4318 5176 5270 5327 5328 552 55800 6648 6833 727 7422 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	APOB	338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	GATA4 IGF2 MMP9 NFATC1 SALL4	2626 3481 4318 4772 57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	BMP4 MMP3	4314 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	FMR1 FXR1 FXR2 MMP9	2332 4318 8087 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	ATP7A	538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111496	combined oxidative phosphorylation deficiency 17 Aliases: COXPD17	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	ABCA3 CSF2 CSF2RA CSF2RB DEFB1 MARS1 SFTPA1 SFTPB SFTPC SFTPD	1437 1438 1439 1672 21 4141 6439 6440 6441 653509	Homo sapiens (human)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	C3 CCL7 CD36 CHIA CSF2 CTLA4 EGR1 ELN HLA-DQB1 HNRNPA3 IL1RN KIF3A MARCO MMP13 TERT TNF	11127 1437 1493 1958 2006 220988 27159 3119 3557 4322 6354 7015 7124 718 8685 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:10952	nephritis	ACE AGTR1 CCL2 CXCR2 CYP2J2 EDN1 ICAM1 IFNG IL4 ITGA4 ITGAL ITGB2 NOS3 PARP1 PTK2 SERPINB7 SMAD6 SNRPD1	142 1573 1636 185 1906 3383 3458 3565 3579 3676 3683 3689 4091 4846 5747 6347 6632 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	SYT1 SYT2	127833 6857	Homo sapiens (human)	Alliance of Genome Resources

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