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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 **2076 - 2100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:5667	sweat gland carcinoma Aliases: carcinoma of the Sweat gland	CEACAM5 SMUG1	1048 23583	Homo sapiens (human)
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:14070	vestibular nystagmus Aliases: Nystagmus associated with disorder of the vestibular system	PRNP	5621	Homo sapiens (human)
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0110560	autosomal dominant nonsyndromic deafness 30 Aliases: DFNA30 autosomal dominant deafness 30	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)
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:11201	parathyroid gland disease Aliases: disease of parathyroid glands	AMY1A AMY1B AMY1C APRT CAT CYP19A1 HPGDS KL L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847 9365	Homo sapiens (human)
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AMY1A AMY1B AMY1C CD14 PTGS1 PTGS2	276 277 278 5742 5743 929	Homo sapiens (human)
DOID:2163	nasal cavity disease	ACHE	43	Homo sapiens (human)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD72 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CERS6 CHI3L1 CHST9 CLEC12A CNTFR COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 EBP EFNA5 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GAPDH GGT1 GML GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST4 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1RL1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LIPA LPL LSS MBL2 MOGS MTAP NAAA NAMPT NCAM1 NT5E PARP9 PGP PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PLCG2 PNP PNPLA3 PRKAA2 PRPS1 PTEN PTGS2 SACM1L SCD SELE SFTPD SHMT1 SLC27A5 SMUG1 SOAT1 SPHK2 ST8SIA6 UGT1A1 UMOD UNG	1012 10135 1048 1056 10584 10682 10855 1087 10998 1116 1271 1464 1543 1544 1545 1555 1557 1558 1571 1576 1577 160364 1604 1946 2026 2131 2271 22908 22914 231 23583 23659 248 250 2526 253782 2539 2571 2597 2678 27087 27163 27306 2765 28 2821 283871 2876 308 3098 3161 3251 3383 338596 3417 3418 3425 353 3635 3956 3958 3988 3992 4023 4047 4051 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 5336 54658 5563 55902 5631 56848 5728 5743 60495 6319 6401 6441 6470 6646 7369 7374 7841 80339 811 83539 83666 847 8644 8809 912 9173 929 933 945 9487 952 960 962 971 9951	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:0110442	dilated cardiomyopathy 1Q Aliases: CMD1Q	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:936	brain disease Aliases: encephalopathy	ACE ACHE ACSF3 AMACR AMT APRT ARSA ATP6V1A CAT CEL CLN5 COG8 CPT2 CYB5R3 CYP2B6 CYP2R1 CYP46A1 DLD ENO2 FCN2 FDPS FH FUT8 GBA1 GCDH GCSH GLDC GLUL GLYCTK HIBCH HMGCL HPGDS IDH3A IDS LGALS3 MCAT NCAN NTNG1 OGG1 PARP9 PDHX PGAP1 PIGA PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLCB1 POMT1 PPT1 PRNP PTEN PTGES PTGS2 RTN4R SDC2 SDHA SLC27A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SMUG1 SUCLG1 SYNJ1 TM7SF2 UGT1A1 VCAN	10559 1056 10585 10858 10998 120227 1203 132158 1376 1462 1463 1555 1636 1727 1738 197322 2026 2220 2224 2271 22854 23236 23583 23600 2530 26275 2629 2639 2653 27306 2731 27349 275 2752 3155 3419 3423 353 3958 410 43 4968 51604 523 5277 5290 5291 5293 5294 5315 54658 5538 5621 5728 5743 6383 6389 65078 6515 7108 7355 80055 8050 83666 8398 84342 847 8802 8867 9197 9536	Homo sapiens (human)
DOID:4479	pseudohypoaldosteronism	MRC1	4360	Homo sapiens (human)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	ACADS AMT ARSA ARSD B4GALT7 BAAT BRAF CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 673 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)
DOID:12139	dysthymic disorder Aliases: dysthymia	ACACA ACE ACHE ACOT7 ACOX1 ACSL4 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DHDDS DLD EPM2A FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IMPA2 INPP5K INPPL1 KL LDHA LGALS1 LGALS3 LIPA LMAN2L LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDH2 ME1 MPG MUTYH NANS NCAM1 NDST1 NEIL1 NT5E OCRL OGG1 PAFAH1B1 PARP1 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TUSC3 UGCG VCAM1 XYLT2	1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 125 126 1298 1312 1374 142 1431 1464 148789 151056 1555 1557 1559 1571 1576 1588 1593 159371 1607 1636 1646 166929 1738 217 218 2182 2224 22901 22933 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 307 31 3290 3340 3383 340075 3423 3425 353 3613 3636 3939 3956 3958 3988 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 501 5048 5067 51 51495 51548 51763 5226 5279 5290 5291 5293 5294 5319 5320 5321 54187 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 811 81562 8398 847 8560 8803 9104 9197 9365 9394 952 9524 9896	Homo sapiens (human)
DOID:10175	optic papillitis Aliases: papillitis	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:6053	childhood germ cell cancer Aliases: paediatric germ cell cancer paediatric germ cell neoplasm pediatric germ cell cancer pediatric germ cell neoplasm	AKR1C1 AKR1C3 DHDH GOLPH3 GPC3 PARP1 PRSS21 SMUG1	10942 142 1645 23583 2719 27294 64083 8644	Homo sapiens (human)
DOID:10969	hemiplegia Aliases: Infantile hemiplegia Postnatal infantile hemiplegia	ACHE ACSM1 ACSM2A ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 250 2571 26033 2639 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)

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