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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 **10651 - 10675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	IGFBP3	3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	NIPAL4	348938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050830	peripheral artery disease	ADIPOQ B2M CCN1 NPY1R NPY2R NPY5R P2RY12 SERPINE1	3491 4886 4887 4889 5054 567 64805 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	CCN1 NTF3	3491 4908	Homo sapiens (human)	Alliance of Genome Resources
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	CCN1	3491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS	35	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S Aliases: CMT2S Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S autosomal recessive axonal Charcot-Marie-Tooth type 2S	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	APP	351	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 35307 40079 41334 41574 42538 53501 53502 53503 53504 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2 htl tor	35105 35137 35138 35139 35717 40079 41334 41574 42160 42538 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Oatp74D Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 39954 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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