GlyCosmos Portal

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

Displaying entries **1901 - 1925** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	ABO ALDH9A1 ALDOA CD55 DGKE FBP1 FOLR2 G6PD GALT GCLC GPI H6PD HK1 HPGDS LCAT PFKM PGK1 PGM3 PIGA PIGT PKLR PTGS2 SLC35A2 SMUG1 TPI1 UGCG UGT1A1	1604 2203 223 226 2350 23583 2539 2592 2729 27306 28 2821 3098 3931 51604 5213 5230 5238 5277 5313 54658 5743 7167 7355 7357 8526 9563	Homo sapiens (human)
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	ABO ACSL4 ALDOA CAT CD55 FUT1 G6PD GPI HK1 NDUFAB1 NT5E PKLR SCD TPI1 UGT1A1 UGT8	1604 2182 226 2523 2539 28 2821 3098 4706 4907 5313 54658 6319 7167 7368 847	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:10393	secondary hypertrophic osteoarthropathy Aliases: Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy	CBR1 CD55 DPEP1 PTEN PTGS2 SFTPA1 SFTPA2 SFTPC	1604 1800 5728 5743 6440 653509 729238 873	Homo sapiens (human)
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ACE CAT CD55 G6PD GAPDH HK1 PGK1 PTGS2 ST8SIA4 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UMPS	1604 1636 2539 2597 3098 5230 54575 54576 54577 54578 54657 54658 5743 7372 7903 847	Homo sapiens (human)
DOID:4189	mutism	TMTC2	160335	Homo sapiens (human)
DOID:0050242	primary amebic meningoencephalitis Aliases: Naegleria fowleri infection	CYP51A1	1595	Homo sapiens (human)
DOID:0080159	Cryptococcal meningitis	CYP51A1 MBL2	1595 4153	Homo sapiens (human)
DOID:2789	parasitic protozoa infectious disease Aliases: mastigophora infectious disease sarcomastigophora infectious disease	CYP51A1 HK1	1595 3098	Homo sapiens (human)
DOID:9065	leishmaniasis	ACSS2 APRT CD44 CYP51A1 DPAGT1 FCN2 G6PD GAPDH GCK H6PD LGALS3 MBL2 MPG MRC1 PIK3CA PIK3CB PIK3CD PRKAA2 SELL SOAT1 UNG	1595 1798 2220 2539 2597 2645 353 3958 4153 4350 4360 5290 5291 5293 5563 55902 6402 6646 7374 9563 960	Homo sapiens (human)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	ACSS2 APRT CD14 CD44 CYP51A1 DPAGT1 FCN2 FH G6PD GAPDH GCK H6PD INPP5D LGALS1 LGALS3 LPL MBL2 MPG MRC1 NCAM1 PIGZ PIK3CA PIK3CB PIK3CD PRKAA2 SELL SLC17A5 SMPD2 SMUG1 SOAT1 TNF UNG	1595 1798 2220 2271 23583 2539 2597 2645 26503 353 3635 3956 3958 4023 4153 4350 4360 4684 5290 5291 5293 5563 55902 6402 6610 6646 7124 7374 80235 929 9563 960	Homo sapiens (human)
DOID:1564	fungal infectious disease Aliases: mycosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)
DOID:8913	dermatophytosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:7608	parathyroid adenoma Aliases: adenoma of the Parathyroid gland	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)
DOID:1540	parathyroid carcinoma Aliases: Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)
DOID:9775	diastolic heart failure	ACE CYP27B1 LEPR	1594 1636 3953	Homo sapiens (human)
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	PGK1 SLC35G1	159371 5230	Homo sapiens (human)
DOID:8446	intussusception Aliases: Intussusception of intestine Invagination of intestine or colon	PCYT1A PTEN SLC35G1	159371 5130 5728	Homo sapiens (human)
DOID:12680	pseudobulbar palsy Aliases: pseudobulbar paralysis	B4GALNT1 CYP27A1	1593 2583	Homo sapiens (human)
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	CD44 CYP27A1 LPL SMUG1 SULF2	1593 23583 4023 55959 960	Homo sapiens (human)
DOID:0110259	cataract 43 Aliases: CTRCT43	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:0110238	cataract 18 Aliases: CATC2 CTRCT18 autosomal recessive congenital cataract 2 cataract 18 autosomal recessive	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:0110261	cataract 35 Aliases: CATCN1 CTRCT35 autosomal recessive congenital nuclear cataract 1 cataract 35, congenital nuclear	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)

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