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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1426 - 1450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:841	extrinsic allergic alveolitis Aliases: alveolitis hypersensitivity pneumonitis	ACE ATP6AP2 CEL CHI3L1 CYP2E1 LGALS9 PARP9 SFTPA1 SLC27A5 TNF	10159 1056 10998 1116 1571 1636 3965 653509 7124 83666	Homo sapiens (human)
DOID:4692	endophthalmitis	NTM TNF	50863 7124	Homo sapiens (human)
DOID:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	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)
DOID:0090090	hypogonadotropic hypogonadism 19 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:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CERS1 CFC1 PHKA2	10715 5256 55997	Homo sapiens (human)
DOID:0050568	spondylocostal dysostosis Aliases: Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia	LFNG SLC35A3	23443 3955	Homo sapiens (human)
DOID:0080145	childhood T-cell acute lymphoblastic leukemia Aliases: T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia	ARSA CD33 FCER2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 SULT1E1 TALDO1	2208 410 4507 4684 5290 5291 5293 5294 56983 6783 6888 945	Homo sapiens (human)
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ADH7 ELOVL4 ENO2 HSD17B6 LPCAT1 PCYT1A PNPLA6	10908 131 2026 5130 6785 79888 8630	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	CHIT1 COMT CYP2B6	1118 1312 1555	Homo sapiens (human)
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT TALDO1	6888 847	Homo sapiens (human)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
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)
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	HACD1	9200	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	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:1555	urticaria	ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE VCAM1	1608 1636 189 2215 224 240 27306 2876 3383 4056 410 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 847 952	Homo sapiens (human)
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	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:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ACE ACSL1 AGK AKR1B10 APRT CACNA2D2 CALR CANX CAT CD44 CEACAM5 CYP1A1 CYP2B6 CYP2E1 EXT1 HACD1 HPGDS HPSE HS3ST2 KLRD1 KLRK1 LGALS3 LGALS9 LIPA LPIN1 MASP2 MBL2 MICA MMUT MPG MUTYH OGG1 PARP1 PDIA3 PIK3CA PLAUR PTEN PTGS2 SDHD SMUG1 ST6GALNAC5 ST8SIA4 STS SULF1 VTCN1	100507436 1048 10747 10855 142 1543 1555 1571 1636 2131 2180 22914 23175 23213 23583 27306 2923 353 3824 3958 3965 3988 412 4153 4350 4594 4595 4968 5290 5329 55750 57016 5728 5743 6392 7903 79679 811 81849 821 847 9200 9254 960 9956	Homo sapiens (human)
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	CHI3L1	1116	Homo sapiens (human)
DOID:2800	acute interstitial pneumonia Aliases: AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis	AMY2A ARSA CHI3L1 DCN DEGS1 ENO1 MBL2 PKD1 PTEN PTGS2 RECK SDC4 SFTPA1 SFTPA2 SFTPC SFTPD SMUG1 VCAN	1116 1462 1634 2023 23583 279 410 4153 5310 5728 5743 6385 6440 6441 653509 729238 8434 8560	Homo sapiens (human)
DOID:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant deafness 5	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)

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