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: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		disease 1.000 None 1.000 16 14 1998 2019
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease 0.130 None 1.000 0 2 2015 2018
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease 0.110 None 1.000 0 2 2017 2017
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group 0.100 None 1.000 3 1 2002 2014
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		phenotype 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2