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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 **201 - 225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB PKD1 PRKCSH SEC63 UCP2	11231 23193 5310 5589 7351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	CDKN1B CHGA DMBT1 HSD17B10 L1CAM RET SDHA SDHB	1027 1113 1755 3028 3897 5979 6389 6390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	CDKN1B DLST SDHA SDHAF2 SDHB SDHC SDHD SLC25A11	1027 1743 54949 6389 6390 6391 6392 8402	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALX4 ARX CSTF2 FTSJ1 IQSEC2 THADA ZMYM3	1478 170302 2181 2182 23096 24140 60529 63892 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 CC2D2A IFT74 INPP5E	403 56623 57545 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	CC2D2A KIF14 RPGRIP1L TBC1D32 TMEM231 TMEM67 TXNDC15	221322 23322 57545 79583 79770 91147 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	ALB EGF IGF1R	1950 213 3480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	ACVR2A ACVR2B BMP2 BMP4 BMPR1A BMPR1B HIVEP1 HIVEP2 HIVEP3 SMAD4 SMAD5	3096 3097 4089 4090 59269 650 652 657 658 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050789	tarsal-carpal coalition syndrome	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050790	fibular hypoplasia and complex brachydactyly Aliases: Du Pan syndrome acromesomelic dysplasia-2B	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	FGF9 GDF5	2254 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	SLC6A8	6535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050804	glioblastoma proneural subtype	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1	3373	Homo sapiens (human)	Alliance of Genome Resources

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