GlyCosmos Portal

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

Displaying entries **2501 - 2525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:5500	cellular ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CAT CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB GPX1 HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 2876 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 847 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:11823	hepatorenal syndrome	TLR4 TNF VCAM1	7099 7124 7412	Homo sapiens (human)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACE ACSL4 ALG12 ALG8 ARSD ART3 B3GLCT CD14 CD44 CEACAM6 CHST15 CLEC7A COMT CRYBG1 CYP19A1 CYP1B1 CYP2C19 CYP2C9 CYP4F2 CYP4F3 DHCR24 DPM1 ENO1 FASN G6PC3 GLB1 GPC3 IDH1 INPP5E LGALS1 LGALS3 LGALS9 MASP1 MBL2 MSLN NAMPT NTNG1 PARP1 PDHX PIGN PIGQ PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTEN PTGES PTGIS PTGS2 RECK SMPD2 STS TALDO1 TFAP2B TKT UMPS	10135 10232 1312 142 145173 151056 1545 1557 1559 1588 1636 1718 202 2023 2182 2194 22854 23556 2719 2720 3417 3956 3958 3965 4051 412 414 4153 419 4680 51363 51604 5290 5291 5293 5294 5648 56623 5728 5740 5743 64581 6610 6888 7021 7086 7372 79053 79087 8050 8434 8529 8813 9091 92579 929 9536 960	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
DOID:13200	substernal goiter Aliases: Retrosternal thyroid goiter Retrosternal thyroid goitre substernal goitre	ALPI ALPP CEACAM5 CYP1A1 GFRA1 HSD11B2 LGALS3 NCAM1 PTEN PTGS2 QPRT SMUG1	1048 1543 23475 23583 248 250 2674 3291 3958 4684 5728 5743	Homo sapiens (human)
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	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:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	CYP3A4 FUT4 NYX PCYT1B RPE SORD	1576 2526 60506 6120 6652 9468	Homo sapiens (human)
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:0110772	hereditary spastic paraplegia 19 Aliases: SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19	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:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	ACE ALDH1A3 ANXA5 APRT ARSA CALR CAT CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CNTN4 CYP17A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP39A1 CYP7A1 CYP7B1 FKTN GALNT3 GCNT2 GGT1 GPC1 GPC3 GPX3 HK2 HPGDS HPSE HSD17B7 HSPG2 IDH1 ISYNA1 LDHA MPG NT5E OGG1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLCE1 PSAP PTEN PTGS2 RBP4 SDC1 SDC2 SMUG1 SPHK1 ST8SIA4 SULT2B1 TYMP	1012 1048 10855 1087 152330 1543 1545 1555 1581 1586 1593 1636 1890 220 2218 23583 2591 2651 2678 2719 27306 2817 2878 308 3099 3339 3417 353 3939 410 4350 4680 4907 4968 5091 51196 51302 51477 51478 5230 5290 5291 5293 5294 5313 5315 5660 5728 5743 5950 6382 6383 6820 7903 811 847 8877 9420 960	Homo sapiens (human)
DOID:10816	duodenum adenocarcinoma Aliases: Duodenal adenocarcinoma	CD44 NTHL1	4913 960	Homo sapiens (human)
DOID:0060283	peeling skin syndrome Aliases: deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease	BST2 CHST8 GPI KLRB1	2821 3820 64377 684	Homo sapiens (human)
DOID:12169	carpal tunnel syndrome Aliases: CTS - Carpal tunnel syndrome Median nerve entrapment carpal tunnel median neuropathy	ACAN ACE CHPT1 COMT CYP19A1 OLR1 PTGS2 UMPS	1312 1588 1636 176 4973 56994 5743 7372	Homo sapiens (human)
DOID:0060239	Van der Woude syndrome	CNTN2 CPO CYP2E1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRKAA2 PTGS2 UMOD	130749 1571 5290 5291 5293 5294 5315 5563 5743 6900 7369	Homo sapiens (human)
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	B3GAT1 FH G6PD TNF	2271 2539 27087 7124	Homo sapiens (human)
DOID:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)
DOID:0060167	seasonal affective disorder Aliases: winter depression	ACE AMY1A AMY1B AMY1C COMT GAD1	1312 1636 2571 276 277 278	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)

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