GlyCosmos Portal

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

Displaying entries **76 - 100** of **4649** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	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 ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	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:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	PPIA	5478	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: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:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL12A1 COL6A1 COL6A2 COL6A3	1291 1292 1293 1303	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:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	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:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	NSDHL	50814	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:0050680	Boomerang dysplasia	FLNB	2317	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:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	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:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	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:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	PLOD2	5352	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1L	23171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources

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