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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4026 - 4050** of **4115** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	PLOD2	5352	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050680	Boomerang dysplasia	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	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:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111580	Behr syndrome Aliases: Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE CCL2 CCR5 CTLA4 CYP1A1 DHCR7 FCGR3A HLA-B HLA-DQB1 HLA-DRB1 ICAM1 IL10 IL21R IL23R IL2 IL4 ITGA2 MBL2 NAT2 NOD2 NOS3 PROZ SLC11A1 STAT3 STAT4 TGFB1 TLR2 TLR4 TNF VIM VWF	10 1234 149233 1493 1543 1636 1717 2214 3106 3119 3123 3383 3558 3565 3586 3673 4153 4846 50615 5243 6347 64127 6556 6774 6775 7040 7097 7099 7124 7431 7450 8858	Homo sapiens (human)	Alliance of Genome Resources
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050660	Beare-Stevenson cutis gyrata syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110147	Bartter disease type 5 Aliases: BARTS5 Bartter syndrome, type 5, antenatal, transient	MAGED2	10916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources

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