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*606869 - HEXOSAMINIDASE A; HEXA
Cytogenetic locations: 12954459
Gene summaries Genetic tests Medical literature
*613109 - GM2 ACTIVATOR; GM2A
Cytogenetic locations: 17713516
*612711 - GRIP AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; GCC2
Cytogenetic locations: 16885419
*609410 - SYNAPTOJANIN 2; SYNJ2
Cytogenetic locations: relaxed
*606945 - LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Cytogenetic locations: 19520913
*606873 - HEXOSAMINIDASE B; HEXB
ENC1, ANTISENSE, INCLUDED; ENC1AS, INCLUDED
Cytogenetic locations: 17633435
*604039 - O-GlcNAcase; OGA
Cytogenetic locations: 15485860
600333 - MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
#272800 - TAY-SACHS DISEASE; TSD
TAY-SACHS DISEASE, JUVENILE, INCLUDED
Cytogenetic locations: 12868052
#272750 - GM2-GANGLIOSIDOSIS, AB VARIANT
Cytogenetic locations: 21570834
#268800 - SANDHOFF DISEASE
SANDHOFF DISEASE, ADULT TYPE, INCLUDED
Cytogenetic locations: 18758829
#258870 - GYRATE ATROPHY OF CHOROID AND RETINA; GACR
Cytogenetic locations: 13939534
#252650 - MUCOLIPIDOSIS IV; ML4
Cytogenetic locations: mutation
#230800 - GAUCHER DISEASE, TYPE I; GD1
Cytogenetic locations: 17878420
#229600 - FRUCTOSE INTOLERANCE, HEREDITARY; HFI
Cytogenetic locations: 13673549
#180200 - RETINOBLASTOMA; RB1
Cytogenetic locations: WAS
*179050 - PYRUVATE KINASE, MUSCLE; PKM
PYRUVATE KINASE, MUSCLE, 1, INCLUDED; PKM1, INCLUDED
Cytogenetic locations: 30487609
*154550 - MANNOSEPHOSPHATE ISOMERASE; MPI
Cytogenetic locations: 12414827
142660 - HEXOSAMINIDASE C; HEXC
*141900 - HEMOGLOBIN--BETA LOCUS; HBB
Cytogenetic locations: 16762915
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