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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 **2951 - 2975** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0060872	isolated growth hormone deficiency type II Aliases: IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0060873	isolated growth hormone deficiency type IA Aliases: IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:0110213	isolated cleft palate	ALPP ATRNL1 B3GALT6 B3GAT3 B3GLCT CAT CHST14 CHST3 COL9A2 COLEC10 COLEC11 COMT CYP1A2 CYP24A1 DHCR24 EBP FKRP FKTN G6PC3 GAD1 GAS1 GMPPB GPC3 HSPG2 INPP5E INPPL1 LARGE1 LFNG MASP1 MRC1 MTMR3 NT5E PGAP2 PGAP3 PGM1 PIGL PIGN PIGO PIGP PIGQ PLCB4 POMT1 POMT2 SC5D SELENOI SLC26A2 SLC35D1 SMC3 SRD5A3 SRGN TGDS TIGAR TKTL1 XYLT1	10584 10585 10682 113189 126792 1298 1312 145173 1544 1591 1718 1836 2218 23169 23483 23556 250 2571 26033 2619 26229 2719 27315 29925 29954 3339 3636 3955 4360 4907 51227 5236 5332 5552 5648 56623 57103 6309 64131 78989 79147 79644 8277 847 84720 85465 8897 9091 9126 9215 92579 93210 9469 9487	Homo sapiens (human)
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CHPT1 CLC CNTN1 CYP3A4 DHCR24 DHDDS DLD ENPP7 FUT4 GALNT12 GLB1 GUSB HPGDS ICAM1 KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1576 1604 1718 1738 192134 220 22914 22934 23583 23659 246 250 2526 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5336 54659 5563 55902 56994 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 79947 811 8398 8399 8658 873 9536 960	Homo sapiens (human)
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)
DOID:0060181	ischemic colitis	PC PTGS2 SMUG1	23583 5091 5743	Homo sapiens (human)
DOID:326	ischemia	ABAT AKT2 ANXA5 CYP2E1 LIPC PTGES PTGS2 SELL TP53	1571 18 208 308 3990 5743 6402 7157 9536	Homo sapiens (human)
DOID:326	ischemia	Akt2 Trp53	11652 22059	Mus musculus (house mouse)
DOID:326	ischemia	Akt2 Tp53	24842 25233	Rattus norvegicus (Norway rat)
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 GLB1 GLUL HSD11B1 HSD11B2 IL18R1 KLB LCT MBL2 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SI SLC26A2	1113 1312 152831 1555 1636 175 1836 231 23205 2720 2752 2923 3290 3291 3938 4051 410 4153 43 4680 5290 5291 5293 5294 5315 5743 6476 847 8809 929	Homo sapiens (human)
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:11758	iron deficiency anemia	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:11758	iron deficiency anemia	Tnf	21926	Mus musculus (house mouse)
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)
DOID:240	iris 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)
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:6945	inverted follicular keratosis Aliases: Inverted folicular keratosis	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)
DOID:3283	invasive malignant thymoma Aliases: Infiltrating Thymoma Thymoma malignant Invasive	SMUG1	23583	Homo sapiens (human)
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 IDH1 PIK3CA PLAUR PTGS2 PYGM	3417 5290 5329 5743 5837 960	Homo sapiens (human)
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	Akt1 Pcna	11651 18538	Mus musculus (house mouse)

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