GlyCosmos Portal

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

Displaying entries **1976 - 2000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060714	autosomal recessive congenital ichthyosis 5 Aliases: ARCI5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis	ALDH3A2 ALOX12B CERS3 COG7 CYP2B6 GBA1 STS SULT2B1	1555 204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060655	autosomal recessive congenital ichthyosis Aliases: ARCI lamellar ichthyosis non bullous congenital ichthyosiform erythroderma	ALDH3A2 ALOX12B CERS3 COG7 EBP ELOVL4 GBA1 NSDHL STS SULT2B1	10682 204219 224 242 2629 412 50814 6785 6820 91949	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	ALOX12B STS	242 412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	ALOX12B STS	242 412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)	DisGeNET
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ACAA1 ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1 SCP2	2819 30 3295 5048 51478 6342 8309 8443 847 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0110850	xeroderma pigmentosum group B Aliases: XP group B XPB XPBC	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0050427	xeroderma pigmentosum	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	CAT COMT CYP1B1 HPGDS HPRT1 MPG OGG1 PIK3CA PIK3CD PIK3CG PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4350 4968 5290 5293 5294 5728 5743 64132 6888 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110843	xeroderma pigmentosum group A Aliases: XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A	CAT COMT CYP1A1 CYP1B1 HPGDS HPRT1 OGG1 PARP1 PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 142 1543 1545 23583 27306 3251 4968 5728 5743 64132 6888 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	ACAT1 ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4 SMPD1 SOAT1	1048 1593 2053 240 2538 2542 2817 38 5742 6609 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	FCER2 FUT1 G6PC3 G6PD PGK1 PKD2	2208 2523 2539 5230 5311 92579	Homo sapiens (human)	DisGeNET

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