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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 **10251 - 10275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Aliases: IDDBAS	PUS7	54517	Homo sapiens (human)	Alliance of Genome Resources
DOID:1073	renal hypertension	AGTR1 CYP2C8 CYP2J2 HSPA8 IL6 MMP2 MMP9 NOS2 NOS3 NPPA NPPB TNF	1558 1573 185 3312 3569 4313 4318 4843 4846 4878 4879 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112133	severe congenital neutropenia 3 Aliases: Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis	HAX1	10456	Homo sapiens (human)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	GLI3 SHH	2737 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 ABCC3 CALB1 F7 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 2155 28234 3082 54658 6648 793 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	ABHD12	26090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	TFF1	7031	Homo sapiens (human)	Alliance of Genome Resources
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	HDAC2	3066	Homo sapiens (human)	Alliance of Genome Resources
DOID:8440	ileus Aliases: Ileus of intestine	KIT MMP9 NOS3	3815 4318 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	BTK CALR CD40 CD79B MYC	4609 695 811 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060851	pemphigus vulgaris Aliases: familial pemphigus vulgaris	DSG3 HLA-DQB1	1830 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	ELN LTA TNF VEGFA	2006 4049 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080136	multiple mitochondrial dysfunctions syndrome 4	ISCA2	122961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL12A1 COL6A1 COL6A2 COL6A3	1291 1292 1293 1303	Homo sapiens (human)	Alliance of Genome Resources
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	HIF1A ICAM1 IL1A IL1R1 IL2 IL6 MMP1 MMP2 MMP9 RELA TLR2 TLR4 TNF TP53 VEGFA	3091 3383 3552 3554 3558 3569 4312 4313 4318 5970 7097 7099 7124 7157 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:14702	branchiootorenal syndrome Aliases: Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia	EYA3 EYA4 SIX1 SIX4 SIX5	147912 2070 2140 51804 6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080633	developmental cardiac valvular defect	MTHFD1 PLD1 PLD2	4522 5337 5338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	KCNA2	3737	Homo sapiens (human)	Alliance of Genome Resources

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