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 **3026 - 3050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	ARSA ARSB ARSG DEGS1 FUT1 GALC GALNS GBA1 GLB1 IDS PSAP SMPD1 STS SUMF1	22901 2523 2581 2588 2629 2720 285362 3423 410 411 412 5660 6609 8560	Homo sapiens (human)
DOID:1073	renal hypertension	ACE CHGA CYP2C8 CYP2J2 CYP3A4 CYP3A5 CYP4A11 ICAM1 SLC3A1 TM7SF2 TNF UMOD	1113 1558 1573 1576 1577 1579 1636 3383 6519 7108 7124 7369	Homo sapiens (human)
DOID:0090085	hypogonadotropic hypogonadism 9 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)
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)
DOID:0080176	meningococcal meningitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0090080	hypogonadotropic hypogonadism 16 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)
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ACADL ACADM ACADSB ACADVL ACAT1 ACE ACSF3 AGL AKT2 ALDOB APRT BCKDHA BCKDHB CHAT CHGA CHPT1 COG7 COG8 CPT1A CPT1C CPT2 CRYL1 CYP21A2 CYP2C8 CYP2C9 DBT DHDDS DLD ENO1 ENO2 FBP1 G6PC1 GALT GCDH GCK GK GLA GPC3 GYS1 GYS2 H6PD HADH HADHA HK1 HMGCL HMGCS2 IDS KHK KL LGALS1 LPL MGAM MLYCD MPI PC PCCA PCCB PCK1 PCK2 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PRKAA2 PTEN PYGL SELP SGPL1 SI SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC37A4 SLC3A1 SLC5A1 ST3GAL4 SUCLG1 TIGAR UGDH VCAM1	1103 1113 126129 1374 1376 1558 1559 1589 1629 1636 1738 178 197322 2023 2026 208 2203 229 23417 2538 2542 2592 2639 2645 2710 2717 2719 2997 2998 3030 3033 3098 3155 3158 33 34 3423 353 36 37 3795 38 3956 4023 4351 5091 5095 5096 5105 5106 51084 51548 5209 5236 5290 5291 5293 5294 5506 5563 56994 57103 5728 5836 593 594 6403 6476 6484 6514 6515 6517 6519 6523 7355 7358 7412 79947 84342 8802 8879 8972 91949 9365 9563	Homo sapiens (human)
DOID:824	periodontitis Aliases: chronic pericementitis	Adrb1 Hmgb1 Nampt Ppara Tnf	11554 15289 19013 21926 59027	Mus musculus (house mouse)
DOID:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)
DOID:0110053	amelogenesis imperfecta type 4 Aliases: AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	tmtc3	100145573	Xenopus tropicalis (tropical clawed frog)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	PyK Sirt4 Tl Zw	31480 32974 42620 43222	Drosophila melanogaster (fruit fly)
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	50567	Rattus norvegicus (Norway rat)
DOID:0110209	Charcot-Marie-Tooth disease X-linked dominant 1 Aliases: CMT1X CMTX1 Charcot-Marie-Tooth neuropathy X-linked dominant 1 X-linked Charcot-Marie-Tooth disease type 1	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)
DOID:0060815	Miles-Carpenter syndrome Aliases: MCS MRXS4 X-linked intellectual disability, Miles-Carpenter type mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and low fingertip arches	CAT	847	Homo sapiens (human)
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)
DOID:0060549	Barber-Say syndrome	XYLT1	64131	Homo sapiens (human)
DOID:0040099	livedoid vasculitis Aliases: livedoid vasculopathy	AGA FUCA1 NEU1 PTEN	175 2517 4758 5728	Homo sapiens (human)
DOID:0110253	cataract 14 multiple types Aliases: CTRCT14	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:420	hypertrichosis	ACACA AGPAT2 ARSB COG7 CYP11B1 CYP21A2 ECHS1 FUCA1 GLB1 GNS GUSB H6PD HGSNAT HSD3B2 IDS MAN2B1 NAGLU NANS PAPSS2 PDHA1 PTGDS SDHA SGSH SMC3 SRD5A3 XYLT1	10555 138050 1584 1589 1892 2517 2720 2799 2990 31 3284 3423 411 4125 4669 5160 54187 5730 6389 64131 6448 79644 9060 9126 91949 9563	Homo sapiens (human)
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	ARSA ASAH1 CERS1 EPM2A GAPDH GBA1 NAGLU NEU1 PFKL PRNP TMED9	10715 2597 2629 410 427 4669 4758 5211 54732 5621 7957	Homo sapiens (human)

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