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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5401 - 5425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11702	dysgammaglobulinemia	UNG	7374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)	DisGeNET
DOID:0050689	brachydactyly-syndactyly syndrome	MBOAT1	154141	Homo sapiens (human)	DisGeNET
DOID:4353	ciliary body disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)	DisGeNET
DOID:8689	anorexia nervosa	ACACA AMY1A AMY1B AMY1C CD38 CNTN4 CNTN5 CNTN6 COMT CSGALNACT1 CYP17A1 CYP19A1 CYP2B6 EPHX2 ERLEC1 HSD11B2 HTR2A LYZ NTNG1 PARP9 PTGS2 SCD SGSH	1312 152330 1555 1586 1588 2053 22854 27248 27255 276 277 278 31 3291 3356 4069 53942 55790 5743 6319 6448 83666 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8440	ileus Aliases: Ileus of intestine	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)	DisGeNET
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL ARSB B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP27B1 CYP2B6 CYP2C19 CYP2C9 DCN EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB GNPTG HS6ST1 HSPG2 HYAL1 IDS IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 SPAM1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 1594 1634 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3373 3423 3425 3955 411 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 6677 79158 79796 84572 8534 9060 9394 9469 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4551	anus benign neoplasm Aliases: anal neoplasm anal tumors neoplasm of anus	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:3516	adult fibrosarcoma	ACE AKR1A1 AKR1B1 ANXA5 APRT CD44 CHST3 DLD EBP GLB1 GLO1 GPI HK1 HPRT1 HSPG2 IDH1 MMP25 MTAP NAMPT PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTGES3 PTGS2 SDC1 SDC2 SIGLEC7 SMPD1 STS	10135 10327 10682 10728 142 1636 1738 231 27036 2720 2739 2821 308 3098 3251 3339 3417 353 412 4507 5091 5290 5291 5293 5294 5660 5743 6382 6383 64386 6609 9469 960	Homo sapiens (human)	DisGeNET
DOID:4440	seminoma Aliases: Seminoma, Pure	ACACA ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 KCNQ1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCNA PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PLAAT3 PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TYMP UGT1A1	1047 11145 124912 1543 1551 1555 1577 1586 1588 1636 1890 220 23213 23583 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3784 3897 3948 3958 412 4360 501 5111 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	ENPP1 GALNT3 IDUA	2591 3425 5167	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5348	adult endodermal sinus tumor Aliases: adult Yolk Sac neoplasm adult endodermal sinus neoplasm	GPC3	2719	Homo sapiens (human)	DisGeNET
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 CD14 CD44 CYP4A11 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1579 1636 207 22845 284541 285203 4351 5290 5310 5311 56623 7369 929 9420 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060474	familial erythrocytosis 2 Aliases: Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	BRAF IDH1 PIK3CA PIK3CB PIK3CD PIK3CG	3417 5290 5291 5293 5294 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060191	gastroduodenal Crohn's disease Aliases: upper GI Crohn's disease	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)	DisGeNET
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)	DisGeNET
DOID:12239	anal margin squamous cell carcinoma Aliases: Perianal skin squamous cell carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	BRAF CFC1	55997 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	PRKAA2	5563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6576	childhood optic nerve glioma Aliases: glioma of the pediatric visual pathway	APRT PIK3CA PIK3CB PIK3CD PIK3CG	353 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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