GlyCosmos Portal

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Displaying entries **2501 - 2525** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0110577	autosomal dominant nonsyndromic deafness 51 Aliases: DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome	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:0110582	autosomal dominant nonsyndromic deafness 58 Aliases: DFNA58 autosomal dominant deafness 58	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:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	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:0110588	autosomal dominant nonsyndromic deafness 67 Aliases: DFNA67 autosomal dominant deafness 67	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:0110473	autosomal recessive nonsyndromic deafness 18A Aliases: DFNB18A autosomal recessive deafness 18A	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:0110478	autosomal recessive nonsyndromic deafness 20 Aliases: DFNB20 autosomal recessive deafness 20	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:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	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:0110568	autosomal dominant nonsyndromic deafness 43 Aliases: DFNA43 autosomal dominant deafness 43	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:0110579	autosomal dominant nonsyndromic deafness 53 Aliases: DFNA53 autosomal dominant deafness 53	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:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	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:0110502	autosomal recessive nonsyndromic deafness 45 Aliases: DFNB45 autosomal recessive deafness 45	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:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant deafness 5	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:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PRPS1 PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5631 5660 7007	Homo sapiens (human)
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0110498	autosomal recessive nonsyndromic deafness 4 Aliases: DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP RENBP SMUG1 TECTA	135228 146183 220074 22856 23583 25839 340990 410 50 51 5660 5973 7007	Homo sapiens (human)
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)
DOID:9427	hypertensive encephalopathy	COMT PPARA	1312 5465	Homo sapiens (human)

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