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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 **3326 - 3350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5338	gingival hypertrophy Aliases: hypertrophy of gingivae	AGA CYP2C9 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	AMACR APEX1 CYP19A1 PRSS8 PTGS2	1588 23600 328 5652 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110512	autosomal recessive nonsyndromic deafness 6 Aliases: DFNB6 autosomal recessive deafness 6	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)	DisGeNET
DOID:0080534	myxofibrosarcoma Aliases: fibromyxoid sarcoma	CD44 CHSY1 DCN	1634 22856 960	Homo sapiens (human)	DisGeNET
DOID:11077	brucellosis Aliases: Maltese fever undulant fever	CD14 GLA IL18R1 MDH2 MICA SELE SELL SOAT1	100507436 2717 4191 6401 6402 6646 8809 929	Homo sapiens (human)	DisGeNET
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:6345	malignant melanocytic neoplasm of the peripheral nerve sheath Aliases: Melanotic malignant nerve sheath tumor Melanotic malignant peripheral nerve sheath tumor Melanotic malignant peripheral nerve sheath tumour melanocytic MPNST	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0110243	cataract 46 juvenile-onset Aliases: CTRCT46 juvenilae cataract Hutterite type	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:0110511	autosomal recessive nonsyndromic deafness 59 Aliases: DFNB59 autosomal recessive deafness 59	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)	DisGeNET
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	ACE ALG9 APRT DCN GANAB HAGH KL LGALS3 PDHX PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PRKAA2 PRKCSH PTGS2 SEMA7A SMUG1 SOAT1 UMOD	1634 1636 23193 23583 283871 3029 353 3958 5226 5290 5291 5293 5294 5310 5311 5563 5589 5743 6646 7369 79796 8050 8482 9365	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110252	cataract 37 Aliases: CTRCT37	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	ACACA B4GALT7 FCN2 FMOD LYZ OCRL OGA PTGS2 SELE SMC3	10724 11285 2220 2331 31 4069 4952 5743 6401 9126	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10935	dissociative disorder Aliases: dissociative disease dissociative reaction	ABO ACHE COMT GPC6 MDGA2 MMUT PIK3CA PRNP	10082 1312 161357 28 43 4594 5290 5621	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13034	relapsing fever	CYP11B2 CYP21A2 GALC LPIN2	1585 1589 2581 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110827	Usher syndrome type 2 Aliases: USH2	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)	DisGeNET
DOID:8729	milker's nodule Aliases: Milkers' node Paravaccinia milker nodule	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4473	sarcomatoid renal cell carcinoma Aliases: renal cell carcinoma, spindle cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ACE ALOX12 ALOX5 CALR CAT CD177 CD33 CD44 CEL CHI3L1 CHIT1 CYP3A4 FUT1 FUT4 G6PC1 G6PD GPX1 GUSB HPRT1 HPSE IDH1 IDH2 IDS IL18R1 INPP5D LGALS1 LGALS3 MUTYH NAAA OGG1 PAFAH1B1 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG POFUT1 SIGLEC7 SOAT1	1056 10855 1116 1118 142 1576 1636 23509 239 240 2523 2526 2538 2539 27036 27163 2876 2990 3251 3417 3418 3423 3635 3956 3958 4595 4968 5048 5130 5209 5277 5290 5291 5293 5294 57126 6646 811 847 8809 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13401	angioid streaks	ENPP1 GALNT3 PIK3CA PTEN XYLT1 XYLT2	2591 5167 5290 5728 64131 64132	Homo sapiens (human)	DisGeNET

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