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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 **1901 - 1925** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	AQP2	359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081063	DICER1 syndrome Aliases: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	ZFHX2	85446	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	Zfhx2	239102	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	ARHGAP26 CBFB FLT3 GMPS	23092 2322 865 8833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081101	nonautoimmune hyperthyroidism Aliases: Congenital nonautoimmune hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081108	keratosis palmoplantaris striata 1	DSG1	1828	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081109	keratosis palmoplantaris striata 2	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081110	keratosis palmoplantaris striata 3	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081111	osteosclerotic metaphyseal dysplasia	LRRK1	79705	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	ACTB	60	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CTLA4 ICAM1 IL10 IL1RN IL23R IL2 IL3 TNF TSHR	149233 1493 3383 3557 3558 3562 3586 7124 7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	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:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources

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