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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 **7626 - 7650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	osta-1 osta-2 osta-3	173966 175140 182062	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	369017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	Mllt10	17354	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	Yap1	22601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	Fkrp	308390	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a21 Slc22a5	20520 56517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 ADGRL4 AKT3 ASPM ATRX BAG3 BRD7 CBX8 CHAF1B CHI3L1 CPE CPEB1 CTSB CTSH DMBT1 E2F1 EGF ENPP1 EZH2 FLT3LG HEATR1 HRAS IDH1 IL16 KCNC2 KDR KRAS L1CAM MAP2K2 MAP2K3 MDM2 MGMT MMP2 MMP9 NRAS PDGFB PDGFRB PDPN PGF PIK3CB PIK3CD POLE PTGS1 PTGS2 PTPRB RB1 RPL35A SERPING1 SLC7A5 STAT3 STAT5A TNC TP53 XRCC1	10000 10630 1116 1363 1508 1512 1755 1869 1950 2146 2323 259266 29117 3265 3371 3417 3603 3747 3791 3845 3897 4193 4255 4313 4318 4893 5155 5159 5167 5228 5291 5293 5426 546 55127 5605 5606 57332 5742 5743 575 5787 5925 6165 64123 64506 6774 6776 710 7157 7515 8140 8208 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:66	muscle tissue disease	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	Abcb1a Abcb1b Adipoq Akt1 Atf3 C3 Ccl1 Ccl2 Ccr5 Cd14 Cd163 Cd1d1 Cd1d2 Cd209a Cd209b Cd209c Cd209d Cd274 Cd36 Cd86 Egfr Ereg Foxp3 Gbe1 H2-Ab1 H2-Eb1 Havcr2 Il13 Il15 Il1rn Il27 Il4ra Il6ra Itih4 Jun Lta Marco Mbl2 Pdcd1 Pdcd1lg2 Plaur Slc11a1 Tlr1 Tlr2 Tlr4 Tlr9 Tnf Trem1	11450 11651 11910 12266 12475 12479 12480 12491 12524 12774 13649 13874 14961 14969 16163 16168 16181 16190 16194 16427 16476 16992 170776 170779 170786 171285 17167 17195 18173 18566 18669 18671 18793 20290 20296 20371 21897 21898 21926 24088 246779 58205 58217 60533 69165 74185 81897 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	myca mycb	30686 393141	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110461	X-linked dilated cardiomyopathy Aliases: CMD3B DMD-related dilated cardiomyopathy	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	ATP7A ATP7B	538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	Fos Ptgs2	14281 19225	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3482	plague	Ccr5 Il17a	12774 16171	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	Asah1	11886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	DRD3	1814	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	scrib	44448	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	gar-3	179962	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	GIT1 PMT4	850462 853608	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	18293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080652	calcium oxalate nephrolithiasis	Ambp Casr F2 Fn1 Il1rn Oxgr1 Slc26a1	11699 12374 14061 14268 16181 231583 239283	Mus musculus (house mouse)	Alliance of Genome Resources

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