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 **3651 - 3675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:9351	diabetes mellitus Aliases: diabetes	EMI2 GLK1 HXK1 HXK2 ZWF1	850317 850614 852128 852639 855480	Saccharomyces cerevisiae S288C
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	EMI2 GLK1 HXK1 HXK2 OGG1	850317 850614 852128 852639 854942	Saccharomyces cerevisiae S288C
DOID:9970	obesity	EMI2 GCY1 GLK1 HXK1 HXK2 RHO1 TDH1 TDH2 TDH3 YPR1 ZWF1	850317 850614 851974 852128 852639 853106 853395 853465 854287 855480 856294	Saccharomyces cerevisiae S288C
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	EMI2 GAC1 GIP2 GLK1 HXK1 HXK2	850317 850614 852128 852639 854350 856781	Saccharomyces cerevisiae S288C
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	EMI2 FBP26 GLK1 HXK1 HXK2	850317 850614 852128 852639 853286	Saccharomyces cerevisiae S288C
DOID:9839	accommodative esotropia	ELOVL6	79071	Homo sapiens (human)
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)
DOID:0050882	spinocerebellar ataxia type 5	ELOVL5	60481	Homo sapiens (human)
DOID:0050956	spinocerebellar ataxia type 6	ELOVL5 MPI	4351 60481	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:0110406	retinitis pigmentosa 30 Aliases: RP30	ELOVL4 GPX3 RPE	2878 6120 6785	Homo sapiens (human)
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)
DOID:0111060	Ambras type hypertrichosis universalis congenita Aliases: Ambras syndrome HTC1	EFNA5	1946	Homo sapiens (human)
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	EFNA5 PLA2G7	1946 7941	Homo sapiens (human)
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)

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