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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 **6526 - 6550** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:591	phobic disorder	ABAT ABO ACACA ACE ACHE AKR1C1 AKR1C3 ALDH2 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSI B3GAT1 CAT CHGA CNTN3 COMT CYP17A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS GAD1 GAD2 GALNS GLO1 GOLPH3 GPNMB HSD11B2 INPP5K L1CAM LGALS3 LIPA LYPD6 MANEA MGLL MPI NANS PAFAH1B1 PARP1 PC PCYT1A PMM2 PSAP PTGS2 SDHD SIRT6 SLC33A1 SMUG1 SRD5A1 UGT2B15 UMOD	10457 1113 11343 130574 1312 142 1544 1555 1557 1571 1586 1636 1645 18 2023 217 2224 23583 249 2571 2572 2588 27087 2739 276 277 278 28 31 3291 340075 3897 3958 3988 410 414 43 4351 5048 5067 5091 5130 51548 51763 5373 54187 5660 5743 6392 64083 6715 7366 7369 79694 847 8644 9197	Homo sapiens (human)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	850370	Saccharomyces cerevisiae S288C
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk	33461	Drosophila melanogaster (fruit fly)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	24644	Rattus norvegicus (Norway rat)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	pgk-1	171965	Caenorhabditis elegans
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:3818	photoallergic dermatitis Aliases: Photoallergic contact dermatitis Photoallergic eczema	AGPS	8540	Homo sapiens (human)
DOID:0060281	photosensitive epilepsy Aliases: photogenic epilepsy photoparoxysmal response	CYP27A1 DHCR7 EPM2A FDPS KDSR	1593 1717 2224 2531 7957	Homo sapiens (human)
DOID:2960	photosensitive trichothiodystrophy Aliases: IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis	CAT ICAM1	3383 847	Homo sapiens (human)
DOID:3159	photosensitivity disease Aliases: Photodermatitis	DHCR7 EPM2A FDPS KDSR PTGS2	1717 2224 2531 5743 7957	Homo sapiens (human)
DOID:4407	phototoxic dermatitis Aliases: Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness	ANXA5 CAT DGAT1 FCGR3B FOLR1 INPP5K PARP1 PTGS2 RPE SMUG1 SOAT1 TMED9	142 2215 2348 23583 308 51763 54732 5743 6120 6646 847 8694	Homo sapiens (human)
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	ABO ALDH7A1 CD38 GPNMB PTGDS	10457 28 501 5730 952	Homo sapiens (human)
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)
DOID:4851	pilocytic astrocytoma Aliases: Piloid astrocytoma grade I Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	MUTYH SDC1	4595 6382	Homo sapiens (human)
DOID:5032	pineal gland cancer Aliases: Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	ALDH1A3 ALOX5 ALPL CAT CD33 CD44 CD55 CDH13 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 HSD11B2 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCP2 SDHA SDHB SDHC SDHD SMUG1 SOAT1 STS TBXAS1 TIPARP TMEM165 TNKS VCAN	1012 10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3291 3417 3418 3939 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5563 55858 5728 5730 5742 5743 6342 6389 6390 6391 6392 64386 6646 6916 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:1785	pituitary cancer Aliases: Pituitary gland neoplasm malignant Pituitary neoplasm malignant tumor of pituitary gland neoplasm of pituitary gland pituitary gland cancer pituitary neoplasm	CD44 CDH13 HSD11B2 IDH1 IDH2 LDHA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SCP2 SMUG1 STS TBXAS1	1012 23583 3291 3417 3418 3939 412 5290 5291 5293 5294 5563 5728 5743 6342 6916 960	Homo sapiens (human)
DOID:4916	pituitary carcinoma Aliases: carcinoma of the Pituitary gland	CD44 CDH13 HSD11B2 IDH1 IDH2 LDHA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SCP2 SMUG1 STS TBXAS1	1012 23583 3291 3417 3418 3939 412 5290 5291 5293 5294 5563 5728 5743 6342 6916 960	Homo sapiens (human)

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