Source: CLINVAR

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: 9820
Gene Symbol: CUL7
CUL7 		cullin 7 0.633 0.500 2.6E-21
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 1.000 1 4 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 1.000 1 2 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 1.000 1 2 2015 2015
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 6884
Gene Symbol: TAF13
TAF13 		TATA-box binding protein associated factor 13 0.716 0.385 1.6E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 1