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 **3076 - 3100** of **15957** in total

« First

‹ Prev

…

120

121

122

123

124

125

126

127

128

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080977	aortic valve disease 3	ROBO4	54538	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:12720	cerebral atherosclerosis	Kalrn	545156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:110	lens disease	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070007	Seckel syndrome 1 Aliases: SCKL1 microcephalic primordial dwarfism I	ATR	545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ATR ATRIP CDK5RAP2	545 55755 84126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Aliases: Cerebro-facio-thoracic dysplasia Cerebrofaciothoracic dysplasia Pascual-Castroviejo syndrome TMCO1 defect syndrome	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080925	cytochrome P450 oxidoreductase deficiency	POR	5447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	POR	5447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070150	hereditary sensory and autonomic neuropathy type 2B Aliases: HSAN2B hereditary sensory and autonomic neuropathy type IIB	RETREG1	54463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081211	autosomal recessive intellectual developmental disorder 47	Fmn2	54418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	Atp6ap1	54411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	WNT4	54361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	Pdpn	54320	Rattus norvegicus (Norway rat)	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