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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 **5526 - 5550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081110	keratosis palmoplantaris striata 3	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ACKR3 AGER BAX CXCR4 DDR1 ENG EP300 F2 FTO GATA2 IGF1R KAT8 MMP12 MYC PAK4 PDGFB SETD2 SMARCB1 SRSF4 SRSF5 SRSF6 SRSF7 TP53	10298 177 2022 2033 2147 2624 29072 3480 4321 4609 5155 57007 581 6429 6430 6431 6432 6598 7157 780 7852 79068 84148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2 TNS2	23371 3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:12308	Dubin-Johnson syndrome Aliases: Dubin Johnson syndrome chronic idiopathic jaundice	ABCC2 ABCC3 RDX SLCO1A2	1244 5962 6579 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111424	branchiootorenal syndrome 2 Aliases: BOR2	SIX5	147912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	BAP1 CRNKL1 CTCF CTLA4 OCA2 OGG1 PTCH1 PTCH2 RASA1 SHH SMO TP53 XRCC5 XRCC6	10664 1493 2547 4948 4968 51340 5727 5921 6469 6608 7157 7520 8314 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	ABCG2 EZH2 JAK3 MRTFA SNCB	2146 3718 57591 6620 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050983	spinocerebellar ataxia type 36	NOP56	10528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:1962	fallopian tube disease	CCR5	1234	Homo sapiens (human)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C2 C3 CCL2 CCR1 CCR5 CD59 CFB CFH HLA-B IL1RN NOS2 TLR2 TLR4 TNF	1230 1234 3075 3106 3557 4843 629 6347 7097 7099 7124 717 718 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ADD1 AQP1 AQP4 CCDC39 CCDC88C CELSR2 HMGB1 HSPD1 HYDIN ITGB1 KIF27 L1CAM MBOAT7 MPDZ NTF3 POMK PPARA SMARCC1 TMEM67	118 1952 3146 3329 339829 358 361 3688 3897 440193 4908 5465 54768 55582 6599 79143 84197 8777 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	CYP1A1 FLNB FRAS1 GLI3 GRIP1 HOXD13 PITX1 RET	1543 2317 23426 2737 3239 5307 5979 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources

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