Source: INFERRED

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: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		disease 0.930 strong 1.000 34 132 2004 2019
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease 0.900 strong 1.000 0 0 2004 2020
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		disease 0.730 strong 1.000 32 86 2004 2019
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2673375
Disease: Mucolipidosis III Alpha Beta, Atypical
Mucolipidosis III Alpha Beta, Atypical 		disease 0.400 None 1.000 0 1 2008 2008
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease 0.200 None 0.947 7 6 2005 2020
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.120 None 1.000 0 0 2019 2019
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 9 1 2005 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 9 1 2005 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 9 2 2005 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 1.000 3 1 2006 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		disease 0.100 None 1.000 3 1 2006 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype 0.100 None 1.000 3 1 2006 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.100 None 1.000 3 1 2006 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 3 1 2006 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype 0.100 None 1.000 1 6 2018 2018
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854913
Disease: Soft tissue swelling of interphalangeal joints
Soft tissue swelling of interphalangeal joints 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854934
Disease: Progressive alveolar ridge hypertropy
Progressive alveolar ridge hypertropy 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854940
Disease: Lower thoracic interpediculate narrowness
Lower thoracic interpediculate narrowness 		phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3 		phenotype 0.100 None 0 0