Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease 1.000 None 1.000 101 102 1982 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		disease 0.410 None 1.000 0 4 2017 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C2749283
Disease: Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Variant B1 		disease 0.400 None 0 1
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0268276
Disease: Juvenile GM 2 gangliosidosis
Juvenile GM 2 gangliosidosis 		disease 0.110 None 1.000 0 2 2008 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C2874270
Disease: GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, ADULT 		disease 0.110 None 1.000 0 1 1997 1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1848913
Disease: Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Juvenile 		disease 0.110 None 1.000 0 1 2010 2010
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 16 13 1986 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 11 1 1986 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 11 2 1986 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 1.000 5 15 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 5 11 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0034880
Disease: Hyperacusis
Hyperacusis 		phenotype 0.100 None 1.000 5 8 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		phenotype 0.100 None 1.000 5 14 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype 0.100 None 1.000 4 5 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 1.000 4 5 1992 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		phenotype 0.100 None 1.000 4 5 1997 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 1.000 3 2 2012 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 2
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4310892
Disease: BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF 		disease 0.100 None 0 1
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4310891
Disease: GM2-GANGLIOSIDOSIS, LATE ONSET
GM2-GANGLIOSIDOSIS, LATE ONSET 		disease 0.100 None 0 2
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4310890
Disease: GM2-GANGLIOSIDOSIS, SUBACUTE
GM2-GANGLIOSIDOSIS, SUBACUTE 		disease 0.100 None 0 2
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4310843
Disease: TAY-SACHS DISEASE, JUVENILE/ADULT
TAY-SACHS DISEASE, JUVENILE/ADULT 		disease 0.100 None 0 1
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4017633
Disease: HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE 		phenotype 0.100 None 0 1
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C4016988
Disease: GM2-GANGLIOSIDOSIS, CHRONIC
GM2-GANGLIOSIDOSIS, CHRONIC 		phenotype 0.100 None 0 2