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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 **3351 - 3375** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:1148	polydactyly Aliases: postaxial polydactyly	ACHE DHCR7 EBP GPC3 HADHB INPP5E PIGX PIK3CA PNPLA6 PTEN SC5D UMOD	10682 10908 1717 2719 3032 43 5290 54965 56623 5728 6309 7369	Homo sapiens (human)
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	ACE ALDH3A2 ALOX12B AMY2B CERS3 COG7 DGAT1 EBP ELOVL4 GBA1 HSD17B6 LPIN2 MPDU1 PNPLA2 PNPLA6 SGPL1 STS SULT2B1	10682 10908 1636 204219 224 242 2629 280 412 57104 6785 6820 8630 8694 8879 91949 9526 9663	Homo sapiens (human)
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB 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 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:4702	mongolian spot Aliases: Mongolian Macula	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB 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 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	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:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	ACE ALDH3A2 ALOX12B AMY2B ARSA CERS3 DGAT1 DOLK EBP ELOVL3 ELOVL4 GBA1 HS6ST1 HSD17B6 LPIN2 MPDU1 MSMO1 PIGL PNPLA2 PNPLA6 SGPL1 SRD5A3 STS SULT2B1 SUMF1	10682 10908 1636 204219 224 22845 242 2629 280 285362 410 412 57104 6307 6785 6820 79644 83401 8630 8694 8879 9394 9487 9526 9663	Homo sapiens (human)
DOID:1699	obsolete congenital ichthyosiform erythroderma	ACE ADH5 ALDH3A1 ALDH3A2 ALOX12B AMY2B CD44 CERS3 COG7 DGAT1 EBP ELOVL4 FCER2 GBA1 HSD17B6 LPIN2 MPDU1 MRC1 NSDHL PIGA PNPLA2 PNPLA6 PRSS8 SGPL1 STS SULT2B1	10682 10908 128 1636 204219 218 2208 224 242 2629 280 412 4360 50814 5277 5652 57104 6785 6820 8630 8694 8879 91949 9526 960 9663	Homo sapiens (human)
DOID:1921	Klinefelter syndrome Aliases: 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy	CYP19A1 EBP GK IL1RAPL1 PNPLA6 SOAT1 STS	10682 10908 11141 1588 2710 412 6646	Homo sapiens (human)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:987	alopecia	ABO ACAT1 ACE ACER1 AGA AGXT AKR1C4 ALOX12B ATP6V0A2 CERS3 CYP17A1 CYP19A1 CYP27B1 DCN DGAT1 EBP EOGT FADS2 FAR2 FUT3 HPGDS HSD11B1 HSD3B1 ICAM1 KDSR KLRK1 LSS PARP1 PCYT1A PLCD1 PNPLA6 PRNP PRSS8 PTGDS PTGS2 SHMT1 SOAT1 SRD5A1 SRD5A2 ST3GAL4 STS VCAN	10682 10908 1109 125981 142 1462 1586 1588 1594 1634 1636 175 189 204219 22914 23545 242 2525 2531 27306 28 285203 3283 3290 3383 38 4047 412 5130 5333 55711 5621 5652 5730 5743 6470 6484 6646 6715 6716 8694 9415	Homo sapiens (human)
DOID:2021	placenta cancer Aliases: Placental tumors malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta placental cancer primary malignant neoplasm of placenta	ABO AKR1C3 ALPI ALPP ANXA5 APRT ATRNL1 CAT CD1D CD44 CHST3 CYP11A1 CYP19A1 CYP1B1 CYP4F3 DHRS11 DLD EBP ENPP3 HMMR HPRT1 HPSE HSD11B2 HSD17B1 HSD17B7 HSD3B1 IL1R1 KLRC1 LGALS1 MCAT MRC1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTEN SDC1 SDHC SLC2A3 VCAN	10682 10855 1462 1545 1583 1588 1738 248 250 26033 27349 28 308 3161 3251 3283 3291 3292 353 3554 3821 3956 4051 4360 4973 51478 5169 5290 5291 5293 5294 5315 5728 6382 6391 6515 79154 847 8644 912 9469 960	Homo sapiens (human)
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	ABO AKR1C3 ALPI ALPP ANXA5 APRT ATRNL1 CAT CD1D CD44 CHST3 CYP11A1 CYP19A1 CYP1B1 CYP4F3 DHRS11 DLD EBP ENPP3 HMMR HPRT1 HPSE HSD11B2 HSD17B1 HSD17B7 HSD3B1 IGF2 IL1R1 KLRC1 LGALS1 MCAT MRC1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTEN SDC1 SDHC SLC2A3 SMUG1 VCAN	10682 10855 1462 1545 1583 1588 1738 23583 248 250 26033 27349 28 308 3161 3251 3283 3291 3292 3481 353 3554 3821 3956 4051 4360 4973 51478 5169 5290 5291 5293 5294 5315 5728 6382 6391 6515 79154 847 8644 912 9469 960	Homo sapiens (human)
DOID:11111	hydronephrosis	ACE B3GLCT B4GAT1 CHST14 COG1 COG7 CPT2 CYP1A1 EBP G6PC3 GPC3 HPSE2 IDH2 MASP1 NAGLU NSDHL OGA PGAP2 PGAP3 PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PLD1 PTGES PTGS2 TBXAS1 VNN1	10682 10724 11041 113189 1376 145173 1543 1636 23556 2719 27315 284098 3418 4669 50814 5337 55650 5648 5743 60495 6916 84720 84992 8876 9091 91949 92579 93210 9382 9487 9536	Homo sapiens (human)
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	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:0060476	Perlman syndrome Aliases: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism	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:5572	Beckwith-Wiedemann syndrome	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: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:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ABO ACACA ACE ACSM3 ACYP2 ALOX5 B4GALT1 B4GALT7 C1GALT1 C1GALT1C1 CD14 CD44 CD55 CHGA CHPF CLEC14A CYP11B2 CYP19A1 CYP21A2 DCN EPHX2 FCGR3B GAPDH HPSE HSPG2 ICAM1 KL LMAN1 MAN2B1 MBL2 MPDU1 MPG MTM1 MTMR3 NEU1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLA2R1 PLB1 PTEN QTRT1 SACM1L SELE SELL SLC17A5 SLC3A1 ST6GAL1 ST6GALNAC2 STT3A TLR1 TNF UMOD VCAM1 VTCN1	10610 10855 1113 11285 142 151056 1585 1588 1589 1604 161198 1634 1636 2053 2215 22908 22925 240 2597 26503 2683 28 29071 31 3339 3383 3703 3998 4125 4153 4350 4534 4758 5290 5291 5293 5294 5319 56913 5728 6296 6401 6402 6480 6519 7096 7124 7369 7412 7941 79586 79679 81890 8897 929 9365 9526 960 98	Homo sapiens (human)
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	FKRP FKTN GMPPB GNPTAB LARGE1 POMGNT1 POMK POMT1 POMT2 SLC2A10	10585 2218 29925 29954 55624 79147 79158 81031 84197 9215	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:1088	meningocele	B3GALNT2 FKRP FKTN GMPPB LARGE1 LFNG POMGNT1 POMT1 POMT2 SC5D	10585 148789 2218 29925 29954 3955 55624 6309 79147 9215	Homo sapiens (human)
DOID:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)

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