Source: HPO

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: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.400 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C4024677
Disease: Anterior wedging of L1
Anterior wedging of L1 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C4023114
Disease: Anterior wedging of L2
Anterior wedging of L2 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C4023009
Disease: Constrictive median neuropathy
Constrictive median neuropathy 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1854774
Disease: Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 0