GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **8101 - 8125** of **15957** in total

« First

‹ Prev

…

321

322

323

324

325

326

327

328

329

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	56922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11	78989	Homo sapiens (human)	Alliance of Genome Resources
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	ADA2 CCR2 CCR5 IL1RN MMP9 TLR4 TNC	1234 3371 3557 4318 51816 7099 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	CD3D	915	Homo sapiens (human)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CGA ESR1 FLT1 INHA LHCGR PDGFA PDGFB PDGFRA PDGFRB PRMT5	10419 1081 2099 2321 3623 3973 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	LMNA LMNB1 LMNB2 SIRT6 VCPIP1	4000 4001 51548 80124 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	C3 C5 CXCR4 HLA-DQA1 HLA-DQB1 PIGA PIGT	3117 3119 51604 5277 718 727 7852	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080866	primary ovarian insufficiency 9	HFM1	164045	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	EIF2S3 SMPD3	1968 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements