Source: ALL

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 2 12 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 18 6 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 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease 0.310 None 1.000 2 0 2008 2016
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0282631
Disease: Facies
Facies 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0009917
Disease: Contracture
Contracture 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		group 0.200 None 0 0
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 1 0 2019 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
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