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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 **3551 - 3575** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080222	pseudohypoparathyroidism type IB	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Aliases: SIFD	TRNT1	51095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ABCB1 ABCC2 ABCC3 ABCG5 ABCG8 ACACA ACACB ACADM ACADVL ACO1 ACTB ADAMTS13 ADIPOQ ADRB3 AHCY AKT1 ALDH2 APOE ATP5F1A AZGP1 CCL2 CCL5 CCR2 CD163 COL1A1 CYP2E1 DGAT2 EZH2 FASN FOXO1 FTO G6PD GPAM HADHA HFE HMGCR HP HPR IFNA2 IGF1R IGFBP7 IL10 IL13 IL1RN IL6 INSR IRS1 IRS2 KRT18 LEP LEPR LPL MLXIPL MLYCD NAMPT NFE2L2 PKLR PLA2G7 PLIN1 PLIN2 PLIN3 PLIN5 PNPLA3 PON2 PPARGC1A PPARGC1B PPDPF RARRES2 SAMM50 SCD SERPINE1 SIDT2 SIRT1 SIRT2 SIRT3 SIRT4 SIRT6 SLC7A3 SOD2 SREBF1 STAT3 TFRC TG TLR4 TLR9 TNF UBR1 UCP2	10135 10226 10891 11093 123 1244 1277 133522 155 1571 191 197131 207 2146 217 2194 22933 2308 23409 23410 23411 23417 2539 25813 3030 3077 31 3156 32 3240 3250 34 3440 348 3480 3490 3557 3569 3586 3596 3643 3667 37 3875 3952 3953 4023 440503 4780 48 498 5054 51085 51092 51548 5243 5313 5346 54106 5445 563 57678 5919 60 6319 6347 6352 64240 64241 6648 6720 6774 7037 7038 7099 7124 729230 7351 79068 79144 7941 80339 84649 84889 8660 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4 MMP9 TIMP1	4318 652 7076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	BMP4 HSPA1B LIFR NRIP1	3304 3977 652 8204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080202	adenoid cystic carcinoma	ATR KDM6A KMT2C NTRK3 SLC3A2 SLC7A5 TP53 XRN2	22803 4916 545 58508 6520 7157 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080200	bilateral renal aplasia	NPNT	255743	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:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 KDM6A TET2	1441 171023 2146 54790 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	ABHD12	26090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080178	mucositis	ELANE MKI67 MUC2 MUC4 NOS2 PCNA ULK1	1991 4288 4583 4585 4843 5111 8408	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:0080176	meningococcal meningitis	CD46 MARCO MMP13 MMP9 NOD2 TLR2 TLR4	4179 4318 4322 64127 7097 7099 8685	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	GLI2 NOG SHH	2736 6469 9241	Homo sapiens (human)	Alliance of Genome Resources

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