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: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1
disease 0.600 strong 1.000 1 9 2008 2011
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease 0.500 None 1.000 0 5 2008 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.400 None 1.000 0 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
Hypoplasia of the capital femoral epiphysis
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1837732
Disease: Thickened helices
Thickened helices
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0576226
Disease: Short foot
Short foot
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1843108
Disease: Short palm
Short palm
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
Short metacarpals with rounded proximal ends
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis
disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
Flexion contracture of proximal interphalangeal joint
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia
disease 0.100 None 0 0