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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3251 - 3275** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:12698	gynecomastia	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)
DOID:8580	obsolete malignant histiocytosis Aliases: Stewart's granuloma	ABO ANXA5 CD14 CLEC10A FCGR3B KLRD1 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 TMTC3	10462 160418 2215 28 308 3824 4069 4684 5290 5291 5293 5294 5728 6646 929	Homo sapiens (human)
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9 ATP6V0A2	23545 79796	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:1024	leprosy	ACACA ACOT7 AKR1B10 CD14 CD209 CEACAM5 CLEC9A CYP19A1 CYP2E1 FCN1 FCN2 FCN3 GAL3ST4 HSD11B2 IL18R1 IL1RL1 LGALS3 LTA4H MASP2 MBL2 MICA MRC1 NCAM1 NTM PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC4 SDHD SFTPD SIGLEC5 SMPD2 SMPD3 SOAT1 STS TLR1 TLR2 TNF	100507436 1048 10747 11332 1571 1588 2219 2220 283420 30835 31 3291 3958 4048 412 4153 4360 4684 50863 5105 5290 5291 5293 5294 55512 57016 5728 5743 6385 6392 6441 6610 6646 7096 7097 7124 79690 8547 8778 8809 9173 929	Homo sapiens (human)
DOID:4791	supratentorial primitive neuroectodermal tumor Aliases: Supratentorial PNET	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	PTEN	5728	Homo sapiens (human)
DOID:13068	renal osteodystrophy Aliases: renal rickets	ACE ACLY ATP6AP2 CD44 DLST FASN FH GPX1 ICAM1 ISYNA1 KL LCAT MBL2 MDH2 NAGLU NT5E OGA OLR1 PTGS2 SDHA SDHB SDHC SDHD ST3GAL4 VCAN VNN1	10159 10724 1462 1636 1743 2194 2271 2876 3383 3931 4153 4191 4669 47 4907 4973 51477 5743 6389 6390 6391 6392 6484 8876 9365 960	Homo sapiens (human)
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ACE AKR1C4 ALPI ALPP CALR CAT CD177 CEACAM5 CEACAM6 CHI3L1 CHIT1 FREM1 G6PD IDH1 IDH2 IL18R1 LDHA LDHB LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PRG2 SELP SOAT1 STS TBXAS1 TP53	1048 1109 1116 1118 158326 1636 248 250 2539 3417 3418 3939 3945 3956 3958 412 4680 5290 5291 5293 5294 5553 57126 6403 6646 6916 7157 811 847 8809	Homo sapiens (human)
DOID:5608	dental pulp calcification Aliases: pulp calcification pulp calcifications pulpal calcifications	GALNT3	2591	Homo sapiens (human)
DOID:0060432	chromosome 17p13.3 duplication syndrome Aliases: 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3	PAFAH1B1	5048	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:0110754	type 1 diabetes mellitus 17 Aliases: IDDM17 Insulin-Dependent Diabetes Mellitus 17	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3149	keratoacanthoma	B3GAT1 CAT CD44 CYP24A1 HK2 INPP5A MMUT MOGS MRC1 PIK3CA PLD2 PPT1 PTGS1 PTGS2 SDC1 SDHD	1591 27087 3099 3632 4360 4594 5290 5338 5538 5742 5743 6382 6392 7841 847 960	Homo sapiens (human)
DOID:1240	leukemia	A4GALT ABO ACACA ACE ACHE ACSL6 AKR1C3 AKR1C4 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CBR1 CD14 CD1D CD22 CD33 CD38 CD44 CD48 CDH13 CH25H CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP3A5 DAG1 DGKA DLAT DLD EBP ENO2 ENOSF1 EXT1 FASN FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GGT1 GLB1 GPI GPX1 GPX3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRC1 KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MBL2 ME2 MICA MRC1 NAMPT NCAM1 NYX OGG1 PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SDC1 SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC35G1 SLC39A8 SMPD2 SMPD3 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C TP53 UGCG UMOD UNG VCAM1 VTCN1	100507436 1012 10135 10682 10855 1109 142 143 1464 151056 1543 1545 1555 1577 1591 159371 160364 1605 1606 1636 1737 1738 2026 2131 2194 2208 2215 22914 22925 22933 23305 2331 248 250 2523 2525 2526 2539 2678 2683 27036 27087 2720 27306 28 2821 283871 2876 2878 28992 3098 3099 31 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3821 3939 3956 3958 4069 4153 4200 43 4360 4684 4968 5048 51548 5226 5290 5291 5293 5294 5305 5315 5319 5335 5336 53947 55300 55512 55556 5563 56983 57103 5728 5742 5743 60506 6184 6382 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7157 7357 7369 7374 7412 7903 79679 811 8505 8644 873 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0110569	autosomal dominant nonsyndromic deafness 44 Aliases: DFNA44 autosomal dominant deafness 44	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)

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