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 **6301 - 6325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)	DisGeNET
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3	27329	Homo sapiens (human)	Alliance of Genome Resources
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:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)	DisGeNET
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B Aliases: ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)	DisGeNET
DOID:10426	Klippel-Feil syndrome Aliases: Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)	DisGeNET
DOID:4233	clear cell sarcoma Aliases: Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues melanoma, malignant, of soft parts	MRC1 PTEN	4360 5728	Homo sapiens (human)	DisGeNET
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:9286	priapism Aliases: Mentulagra	G6PD GLA KL PTDSS1	2539 2717 9365 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3324	mood disorder Aliases: episodic mood disorder	ABAT ABO ACE CAT CD44 COMT CRYL1 CYP19A1 DGKG DGKH GAD1 GAD2 GLO1 GLUL HPGDS HSD11B2 IMPA2 KL LDHA NCAM1 PAFAH1B1 PDIA3 PFKFB3 PFKL PGD PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PLCB1 PLCB4 PNPLA3 PRNP PTGS1 PTGS2 SIRT2 SOAT1 ST8SIA2 STS TM7SF2	1312 151056 1588 1608 160851 1636 18 22933 23236 2571 2572 27306 2739 2752 28 2923 3291 3613 3939 412 4684 5048 51084 5209 5211 5226 5236 5290 5291 5293 5294 5321 5332 5621 5742 5743 6646 7108 80339 8128 847 9365 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1025	tuberculoid leprosy Aliases: Smooth leprosy type T leprosy	ICAM1 ICAM2 VCAM1	3383 3384 7412	Homo sapiens (human)	DisGeNET
DOID:8781	rubella Aliases: german measles	ABO CANX FCN2 HPGDS IL18R1 MRC1	2220 27306 28 4360 821 8809	Homo sapiens (human)	DisGeNET
DOID:1876	sexual dysfunction	ACE ALDH7A1 CYP19A1 CYP2B6 MDGA2 PGP	1555 1588 161357 1636 283871 501	Homo sapiens (human)	DisGeNET
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ALDH7A1 AMT CYP2C19 GAPDH GPC3 HK2 IDH3A IDH3B IDH3G PIGA PIGP PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 SMUG1 ST3GAL3 SYNJ1	1557 23236 23583 2597 2719 275 3099 3419 3420 3421 501 51227 5277 5290 5291 5293 5294 5563 6487 8867 9091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources

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