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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 **3276 - 3300** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:83	cataract	ACE ACSM3 AGA AGK AKR1B1 ALDH3A1 ALDH6A1 ALDH7A1 ALDOB ALG2 ALG8 ARSA ARSG ATP6V1A B3GALNT2 B3GLCT B4GALNT1 B4GAT1 CA4 CALR3 CAT CD14 CHPT1 CHST1 COG4 COL9A2 COMT CPT2 CRPPA CRYL1 CYP19A1 CYP27A1 CYP51A1 CYP7B1 DAG1 DHDDS DPAGT1 EBP EFNA5 EOGT FDFT1 FH FIG4 FKRP FKTN G6PD GALK1 GALT GBA2 GCLC GCNT2 GLA GMPPB GNPAT GPX1 HGSNAT HPGDS HSPG2 IDH3A IDH3B INPP5E INPP5K KDSR KLRB1 LARGE1 LSS NAGA NEU1 OCRL OGG1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PLOD3 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN PTGS2 RGN RXYLT1 SC5D SDHB SDHC SLC2A3 SLC33A1 SMC3 SORD SRD5A3 ST3GAL4 SUMF1 TKFC VCAN XYLT2	10329 10585 10682 10908 11041 125972 1298 1312 1376 138050 145173 1462 148789 151056 1588 1593 1595 1605 1636 175 1798 1946 218 2218 2222 2271 229 22901 231 2531 2539 2583 25839 2584 2592 26007 2651 2717 2729 27306 285203 285362 2876 29925 29954 3339 3419 3420 3820 4047 410 4329 4668 4758 4952 4968 501 51084 5130 51763 523 5286 5290 5291 5293 5294 5321 5373 55624 55750 56623 56994 5728 5743 57704 6296 6309 6390 6391 64132 6484 6515 6652 729920 762 79053 79147 79644 79947 84197 8443 847 84892 8534 85365 8985 9104 9126 9197 9215 929 9420 9896	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	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:6929	retinal edema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)
DOID:3878	obsolete intestinal pseudo-obstruction	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ABO ACE ACLY ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 ALDH2 ALDH7A1 ALOX12 ALOX12B AMACR ANXA5 ANXA9 ARSF ART1 ATRN B3GAT1 CALR CAT CD109 CD248 CD33 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHGA CHI3L1 CHKA CHPT1 CLEC10A CNTN1 COMT CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4F3 DAG1 DCN DGKA DHDDS DPAGT1 EBP EFNA1 ENO1 ENO2 FASN FBP1 FCER2 FCGR3B FDPS FOLR2 FUCA1 FUT1 FUT4 GALC GALNT2 GALNT3 GGT1 GPAA1 GPC1 GPC3 GPNMB GPX1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 HSD17B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IGF2R INPP5A KL KLRK1 L1CAM LDHB LGALS1 LGALS3 LGALS8 LGALS9 LIPA LSS LTA4H LY6K LYPD3 LYPD5 MASP1 MCAT ME1 MGAM MGLL MICA MRC1 MTAP NAMPT NANS NCAM1 NEIL1 NEIL2 NT5E NTHL1 OGG1 PARP1 PCYT1A PDIA3 PFKFB3 PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLAUR PLCD1 PLCE1 PLCG1 PLCH1 PLD2 PLPP2 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RTN4R SDC1 SDC2 SELE SFTPA1 SFTPA2 SFTPD SGPP1 SHMT1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC5A1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GAL1 ST8SIA4 STS SULF2 TALDO1 TKTL1 TNKS2 TP53 TPI1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A7 UGT1A9 UMPS UNG UPP2 VCAM1 VTCN1	100507436 1012 10135 10327 10457 10462 1048 10682 10855 1087 1113 1116 1119 11343 120227 125 126 127 1272 128 131 1312 135228 142 151531 1543 1544 1545 1555 1557 1558 1571 1573 1577 1591 1594 1605 1606 1634 1636 1645 1646 1798 1890 1942 2023 2026 217 2194 2203 2208 2215 2224 22914 22933 23007 23409 2350 23583 23600 239 242 2517 2523 2526 252969 253782 2581 2590 2591 2678 27036 27076 27087 2719 27306 27349 28 2817 283871 284348 2876 2923 3037 308 3098 3099 3161 3292 3339 3373 3383 3417 3482 3632 3897 3945 3956 3958 3964 3965 3988 4047 4048 4051 412 416 417 4199 4360 4507 4680 4684 47 4907 4913 4968 501 51196 5130 51548 5209 5223 5226 5290 5291 5293 5294 5315 5321 5329 5333 5335 5338 54187 54575 54577 54600 54658 54742 5563 55750 55959 5621 5648 56994 57016 57124 5716 5728 5730 5740 5742 5743 5968 60495 6382 6383 6401 6441 6470 6480 6484 65078 6514 6515 6517 6523 653509 6646 6677 6888 7087 7157 7167 729238 7372 7374 7412 7903 79661 79679 7991 79947 80351 811 81537 8277 8416 8434 8455 847 8612 8644 8692 8733 8972 9365 945 9536 960 972 9956	Homo sapiens (human)
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)
DOID:5757	endocervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)
DOID:1564	fungal infectious disease Aliases: mycosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:3029	colon mucinous adenocarcinoma Aliases: Colonic mucinous adenocarcinoma	CHST4	10164	Homo sapiens (human)
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss Aliases: SHFM1D congenital deafness with split hands and feet	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PARP1 PKD1 PPT1 PPT2 PSAP SCP2	1203 142 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:0110779	hereditary spastic paraplegia 28 Aliases: SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28	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:10793	chronic sphenoidal sinusitis Aliases: Sphenoidal sinus-chr.	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	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:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI PMM2	4351 5373	Homo sapiens (human)
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)

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