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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 **1926 - 1950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)
DOID:0060427	chromosome Xp21 deletion syndrome Aliases: Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21	GK IL1RAPL1	11141 2710	Homo sapiens (human)
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	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:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MAPK14 MICA MRC1 MUTYH NT5E 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 1432 1543 1544 1571 1586 1588 1591 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 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:13088	periventricular leukomalacia	ACE ECHS1 EOGT PC PLA2G6 PMM2 SFTPD TNF TPI1	1636 1892 285203 5091 5373 6441 7124 7167 8398	Homo sapiens (human)
DOID:10146	thymus lymphoma	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:4045	muscle cancer Aliases: malignant neoplasm of muscle malignant tumor of muscle malignant tumor of the Muscle myosarcoma	CDH13 FH	1012 2271	Homo sapiens (human)
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)
DOID:10354	breast fibrocystic disease Aliases: Diffuse cystic mastopathy Fibrocystic disease of breast breast Fibrocystic Change	ACE CEACAM5 CEACAM7 COMT CRLS1 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 DCN GFRA1 GLA HSD17B1 INPP4B LPCAT1 MICA NCAM1 PTEN PTGS2 SDC3	100507436 1048 1087 1312 1543 1545 1583 1586 1588 1634 1636 2674 2717 3292 4684 54675 5728 5743 79888 8821 9672	Homo sapiens (human)
DOID:2481	obsolete infantile epileptic encephalopathy	ABAT ALDH7A1 ALG13 ALG2 ALG3 AMT ATP6V1A B3GALNT2 CACNA2D1 CYP2C19 DHDDS EPM2A GAPDH GCK GLYCTK HIBCH HMGCL HSD17B4 LMAN2L MAN1B1 MBOAT7 NDST1 NGLY1 PAFAH1B1 PDHA1 PGAP1 PIGA PIGC PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 ST3GAL3 SYNJ1 TECR TUSC3	10195 11253 132158 148789 1557 18 23236 2597 26275 2645 275 284098 3155 3295 3340 501 5048 51227 5160 523 5277 5279 5373 55768 64116 6487 7355 781 79143 7957 79644 79868 7991 79947 80055 81562 85365 8867 9091 91869 9524	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
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)
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)
DOID:775	intraocular lymphoma Aliases: primary intraocular lymphoma	CAT	847	Homo sapiens (human)
DOID:0060831	Griscelli syndrome Aliases: Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome	FCGR3B IDS	2215 3423	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	GLB1 KL PLAUR	2720 5329 9365	Homo sapiens (human)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC18B CLEC9A CNTN6 COLEC11 COMT CTSA CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP3A4 CYP4F3 CYP7B1 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2 IGF2R KLRB1 KLRC1 KLRD1 LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 NTM OGG1 PARP1 PIK3C2A PIK3CA PLA2G15 PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SLC35F4 SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1589 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27255 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 341880 347527 3481 3482 3820 3821 3824 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 497190 50863 5286 5290 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 9420 952	Homo sapiens (human)
DOID:6376	hypersplenism Aliases: hypersplenia	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	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:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	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:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)

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