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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 **12526 - 12550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ALDH1A2 CHRD CRKL DICER1 DOCK1 DVL1 ESS2 FGF8 HOXA3 KAT6A NDST1 PLXND1 TGFBR2 UFD1 VEGFA	1399 1793 1855 2253 23129 23405 3200 3340 7048 7353 7422 7994 8220 8646 8854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:1188	mononeuropathy	GAL	51083	Homo sapiens (human)	Alliance of Genome Resources
DOID:11400	pyelonephritis	ACE AMBP B2M BMP7 CALCA CFB CXCR1 IL1RN IL3 PGF TLR1	1636 259 3557 3562 3577 5228 567 629 655 7096 796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	BMP4 CTNNB1 GNAS SPARC SPP1	1499 2778 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110864	congenital stationary night blindness 1F Aliases: CSNB1F congenital stationary night blindness 1F autosomal recessive	LRIT3	345193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	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:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	PPIA	5478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC1 DSC2 DSC3 DSG2 DSP IL6R JUP LMNA PKP2 PPP1R13L RYR2 SCN5A TGFB3 TMEM43	1000 10848 1674 1823 1824 1825 1829 1832 3570 3728 4000 5318 6262 6331 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:12143	neurogenic bladder Aliases: Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111001	Joubert syndrome 6 Aliases: JBTS6	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	ZFYVE26	23503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	PRICKLE1 ROR2	144165 4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	DOCK8 HLA-DQB1 HLA-DRB1 IL10 IL2 MAGT1 MBL2 RELA RELB SDC4 SLC35A2 TUSC3	3119 3123 3558 3586 4153 5970 5971 6385 7355 7991 81704 84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110013	advanced sleep phase syndrome 3 Aliases: FASPS3 familial advanced sleep phase syndrome 3	PER3	8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081164	dilated cardiomyopathy 3B	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	ACTR2 AGER AKAP12 ANTXR1 BMI1 BRCA1 BRCA2 BRD7 CA12 CALU CAT CD59 CHI3L1 CSF1R CXCR4 EFNB2 ERCC6 EZH2 FUBP1 GPX2 GPX3 IL2 IL6 ITGB3 MAPK14 MBD4 MSH6 MYD88 NCOA2 NF1 PHF6 PIK3CA PTPRB RAC1 SELENOP SMAD4 SMARCC1 SRC STAT3 STRAP TP53 XPO1 XRCC1	10097 10499 1116 11171 1432 1436 177 1948 2074 2146 2877 2878 29117 2956 3558 3569 3690 4089 4615 4763 5290 5787 5879 6414 648 6599 6714 672 675 6774 7157 7514 7515 771 7852 813 84168 84295 847 8880 8930 9590 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources

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