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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 **5701 - 5725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	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:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	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:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ARSA ASAH1 CHIT1 CYP11A1 GALC GBA1 GLA GLB1 IDUA OGA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A	10724 10924 1118 1583 2581 2629 2717 2720 3425 410 427 5660 6609 6610 8879	Homo sapiens (human)
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)
DOID:10533	viral pneumonia	ACE CHI3L1	1116 1636	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:268	liver angiosarcoma Aliases: angiosarcoma of liver hemangiosarcoma of the Liver	PIK3CA PLCG1 PTEN QTRT1	5290 5335 5728 81890	Homo sapiens (human)
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ABO ACACA ACAN ACE ACOT7 ACSBG1 ADIPOQ ADRB3 AGPAT1 AKR1D1 ALDH1A3 ALOX12 ALOX5 ALPP AMACR ANXA4 ANXA5 APRT ASAH1 ATRNL1 B3GAT1 B3GNT9 B4GALT1 B4GALT7 CALR CAT CD109 CD14 CD1D CD209 CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEMIP CHAT CHI3L1 CHID1 CHST3 CLEC10A CLEC12A CLEC16A CLEC1B CLEC4E CLEC6A CLEC7A CNTFR CNTN2 COG2 COG6 COL9A2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP7B1 DGKQ DHCR7 DPEP1 EBP ENGASE ENO1 ENPP1 ENPP2 EXT1 FADS1 FADS2 FBXO2 FCER2 FCGR3B FCN1 FCN2 FOLR2 FUT4 GALNT18 GCK GDPD5 GFRA1 GLB1 GNS GPC1 GPC5 GPI GPLD1 GPX1 GUSB GYS1 HAGH HAS1 HAS3 HEXA HEXB HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B6 HSD17B8 HTD2 HYAL2 ICAM1 IGF2 IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL6ST INPP5D ISYNA1 KAT2B KL KLRB1 KLRC1 KLRD1 KLRK1 LCAT LGALS1 LGALS2 LGALS3 LGALS8 LGALS9 LPIN2 LY6G6D LYZ MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MMP17 MMP25 MPG MRC1 MTMR3 MUTYH NAMPT NCAM1 NDST1 NEU1 NT5E OGG1 OLR1 OS9 PARP1 PARP2 PARP9 PCYT1A PDIA3 PFKFB3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG2 PLD1 PLD3 PLD4 PNPLA2 PTEN PTGES PTGS1 PTGS2 RECK RGMB SACM1L SCD5 SCD SDC1 SDC2 SDC3 SDC4 SELE SELL SELP SEMA7A SFTPA2 SFTPD SIGLEC1 SIGLEC7 SIGLEC9 SIRT6 SLC17A5 SLC2A3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST6GALNAC5 STS TM7SF2 TNF TPI1 TREH TYMP UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG VCAM1 VTCN1	10038 100507436 10135 10462 10554 10682 10747 10855 10956 109703458 1103 11141 1116 11181 11285 11332 120227 122618 1271 1298 135228 142 151056 1543 1544 155 1555 1557 1571 1576 1577 1586 1588 1589 160364 1604 1609 161357 1636 1717 176 1800 1890 2023 2131 220 2208 2215 2219 2220 2262 22796 22908 22914 23205 23274 2350 23583 23600 23646 239 240 250 2526 26033 26232 26253 2645 26503 2674 2683 27036 27087 27180 2720 27306 2799 28 2817 2821 2822 285704 2876 2923 2990 2997 3029 3036 3038 307 3073 3074 308 30835 3098 3099 31 3161 3251 3290 3291 3340 3383 3481 353 3554 3556 3572 3635 374378 3820 3821 3824 3931 3956 3957 3958 3964 3965 3992 4069 412 4153 4249 427 4326 4350 4360 4595 4684 4758 4907 4968 4973 51266 5130 51477 51548 5167 5168 5209 5230 5236 5290 5291 5293 5294 5310 5319 5320 5321 5329 5336 5337 54575 54576 54577 54578 54657 5648 56848 57104 57124 57214 5728 5742 5743 57511 58530 6319 6382 6383 6385 6401 6402 6403 64386 6441 64581 64772 6480 6515 66005 6609 6614 6646 6718 6900 7108 7124 7167 729238 7357 7374 7412 7923 7941 79679 79966 811 81544 81849 83666 8399 8434 847 84752 8482 8630 8692 8807 8809 8850 8877 8897 8930 912 929 933 9365 9370 93978 9415 9420 9469 952 9536 960 962 9663 9672 972	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	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:8649	tongue cancer Aliases: malignant neoplasm of tongue	CALR DAG1 GOLPH3 HPSE KLRC1 LGALS3 LSS NANS PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN PTGS2	10855 1605 3821 3958 4047 5290 5291 5293 5294 5329 54187 5728 5743 64083 811	Homo sapiens (human)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)
DOID:3156	hypomelanosis of Ito Aliases: Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CD44 G6PD GANC LMAN1 LPIN2 MAN2A1 MCFD2 MGAT2	2539 2595 3998 4124 4247 90411 960 9663	Homo sapiens (human)
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin 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:0090077	hypogonadotropic hypogonadism 4 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:594	panic disorder Aliases: panic anxiety syndrome	ACE AKR1C1 AKR1C3 ARSI CDS1 COMT CYP2B6 CYP2C19 DGKH DLST FH GAD1 GAD2 GANC GFRA4 GLO1 GPX1 IL1R1 LDHA LDHB MANEA MBL2 MDH2 NAGLU NPL OGA OGG1 PLA2G4E PSAP SDHA SDHB SDHC SIGLEC7 SLC3A1 SRD5A1	1040 10724 123745 1312 1555 1557 160851 1636 1645 1743 2271 2571 2572 2595 27036 2739 2876 340075 3554 3939 3945 4153 4191 4669 4968 5660 6389 6390 6391 64096 6519 6715 79694 80896 8644	Homo sapiens (human)
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)
DOID:3113	papillary carcinoma	ASAH1 B3GAT1 CD44 CYP1A1 ENO2 FUT4 FUT8 GPC3 GPLD1 HPSE HSPG2 IDH2 LGALS1 LGALS3 NCAM1 NEU1 PIGU PIK3CA PTEN PTGS1 PTGS2 SDC2 SLC2A3 SMUG1 VTCN1	10855 128869 1543 2026 23583 2526 2530 27087 2719 2822 3339 3418 3956 3958 427 4684 4758 5290 5728 5742 5743 6383 6515 79679 960	Homo sapiens (human)

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