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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 **7901 - 7925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111779	X-linked panhypopituitarism Aliases: PHPX pituitary dwarfism IV	Sox1	20664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	RBM10	8241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	Rbm10	236732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	Map3k7	313121	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111786	frontometaphyseal dysplasia 1 Aliases: FMD1	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	Map3k7	313121	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	Map3k7	26409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	SH3PXD2B	285590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	Sh3pxd2b	268396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	Gpr143	18241	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	GPR143	4935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	58946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	Clcn5	12728	Mus musculus (house mouse)	Alliance of Genome Resources

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