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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 **3751 - 3775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050336	hypophosphatemia	ACOT8 ALDOB ALG13 CTNS CYP27B1 CYP2R1 ENPP1 KL NAMPT OCRL SLC2A2 SUCLG1	10005 10135 120227 1497 1594 229 4952 5167 6514 79868 8802 9365	Homo sapiens (human)
DOID:5660	lymphoepithelioma-like carcinoma Aliases: Nasopharyngeal type Undifferentiated carcinoma lymphoepithelial carcinoma	PIK3CA SMUG1	23583 5290	Homo sapiens (human)
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	ACE ALDH2 ATP6AP2 CYP2E1 GAPDH	10159 1571 1636 217 2597	Homo sapiens (human)
DOID:0080468	developmental and epileptic encephalopathy 1 Aliases: DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1	CACNA2D2 PIGP PIGQ PLCB1 SMUG1 SYNJ1	23236 23583 51227 8867 9091 9254	Homo sapiens (human)
DOID:2789	parasitic protozoa infectious disease Aliases: mastigophora infectious disease sarcomastigophora infectious disease	CYP51A1 HK1	1595 3098	Homo sapiens (human)
DOID:12986	leukostasis	ACE ALOX15 ICAM1 PNPLA2 VCAM1	1636 246 3383 57104 7412	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:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)
DOID:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)
DOID:0110235	cataract 2 multiple types Aliases: CTRCT2 cataract 2 multiple types with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC17A5 SLC33A1 SORD	1593 2262 2584 26503 2651 4047 4952 501 51084 51763 5290 5291 5293 5294 55750 5728 6652 9197	Homo sapiens (human)
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	ABO ACOT7 CD44 GGT1 HMMR HPSE2 LGALS1 MGAT4A MRC1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAN	11320 11332 1462 23583 2678 28 3161 3956 4360 5236 5290 5291 5293 5294 5728 60495 960	Homo sapiens (human)
DOID:12399	pathological gambling Aliases: Compulsive gambling	CHPT1 COMT DHDDS HTR2A	1312 3356 56994 79947	Homo sapiens (human)
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH NTHL1 OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SDHA SDHC SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4913 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6389 6391 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ABO ACACA ACADM ACADS ACAN ACAT1 ACE ACHE ACLY ACOT7 ACSL5 ACSL6 ACSS2 ADIPOQ ADRB3 AGPAT2 AKR1B1 ALDH2 ALDH7A1 ALG12 ALG9 ALOX12 ALOX15 AMACR ANXA5 APRT ARSB ARSD ATP6AP2 ATP6V1A BDH1 CALR CAT CBR3 CD14 CD44 CDS1 CDS2 CERS1 CERS5 CHGA CHI3L1 CHPT1 CNTN5 COG7 CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F3 DAG1 DCN DGAT1 DLD DLST EBP ELOVL6 ENO2 ENPP1 EPHX2 FADS1 FADS2 FASN FDPS FH FKRP FKTN FMOD G6PD GAD1 GAL3ST1 GALNT1 GAPDH GBA1 GBE1 GLA GLB1 GNPTAB GPD1L GUSB HADH HADHA HADHB HJV HK2 HMGCL HPGDS HSD11B1 HSPG2 HTR2A ICAM1 IDS IGF2R IL1RL1 INPPL1 ISYNA1 ITPK1 KL KLRK1 LCAT LEPR LGALS16 LGALS1 LGALS3 LIPC LPIN2 LPL LY75 LYZ MCAT MDH2 ME1 MGAT1 MMUT MPI MRC1 NAGLU NAMPT NANS NCAM1 NDUFAB1 NPL NT5E NTM OGA OGDH OGT OLR1 PAFAH1B1 PARP1 PCK1 PGK1 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLA2G2A PLA2G7 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP3 PNPLA2 POFUT1 PPP1CC PPP1R3A PPT1 PRKAA2 PTEN PTGIS PTGS1 PTGS2 RBP4 RENBP SCD SDC1 SDC2 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELP SFTPD SGPL1 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMPD2 SMUG1 SOAT1 SPHK1 SRGN STS SUCLA2 SULT1E1 TM7SF2 TMTC3 TNF TPI1 UCP2 UGT1A1 UGT2B7 UMOD VCAM1 XYLT1 XYLT2	10135 10159 1040 10555 10559 10682 10715 10724 1113 1116 11332 1374 1375 1376 142 1431 148003 148738 1543 1544 1545 155 1555 1557 1571 1573 1576 1577 1584 1585 1594 160418 1605 1634 1636 1738 1743 176 1836 2026 2053 217 2194 2218 2224 2271 22914 231 23171 23305 2331 23509 23583 23600 23659 239 246 2539 2571 2589 2597 2629 2632 26503 27111 2717 2720 27306 27349 28 2990 3030 3032 3033 308 3099 31 3155 3290 3339 3356 3383 34 3423 3482 35 353 3636 3705 38 3931 3953 3956 3958 3990 3992 4023 4051 4065 4069 411 412 414 4191 4199 4245 43 4351 4360 4594 4669 4684 47 4706 4907 4967 4973 501 5048 50863 5105 51196 51477 51548 5167 51703 523 5230 5281 5290 5291 5293 5294 5310 5311 5320 5333 5335 5337 5338 53942 54187 54658 5501 5506 5538 5552 5563 55902 56994 57104 5728 5740 5742 5743 5950 5973 622 6319 6382 6383 6385 6389 6390 6391 6392 6401 6403 64116 64131 64132 6441 6517 6523 6609 6610 6646 6783 7108 7124 7167 7351 7364 7369 7412 79071 79087 79147 79158 7941 79796 80896 81031 811 847 8473 8613 8694 874 8760 8803 8877 8879 91012 9173 91949 9197 929 9365 9370 9415 9514 960 9663	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	Homo sapiens (human)
DOID:3946	pituitary-dependent Cushing's disease Aliases: Overproduction of ACTH pituitary-dependent Cushing disease	CD14 CNTN3 CYP11B1 HSD11B1 HSD11B2 SMUG1	1584 23583 3290 3291 5067 929	Homo sapiens (human)
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)
DOID:5376	skin pilomatrix carcinoma Aliases: Pilomatricoma, malignant malignant Pilomatricoma	SMUG1	23583	Homo sapiens (human)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE ADIPOQ ADRB3 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 INS ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PDX1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PPARGC1A PRKAA2 PRNP PTEN PTGS2 RBP4 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TLR4 TM7SF2 TNF UMOD UPP1 VCAM1	1012 10159 10327 10891 142 155 1636 207 217 231 23409 23545 2517 2571 2572 2597 2645 266722 2678 2739 2752 3099 3383 3630 3651 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5950 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7099 7108 7124 7369 7378 7412 7903 7941 847 8473 8704 929 9370 9388 972	Homo sapiens (human)

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