Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 5 14 1992 2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.100 None 0 1
Entrez Id: 2760
Gene Symbol: GM2A
GM2A
P17900 GM2 ganglioside activator Transporter 66 0.678 0.692 3.1E-02 0.100 None 0 0
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.100 None 0 0
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 0