NHLH1, nescient helix-loop-helix 1, 4807

N. diseases: 33; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 GeneticVariation disease BEFREE To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. 29053389 2018
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. 29211286 2018
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. 27350171 2017
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. 28151848 2017
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. 23776525 2013
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Non‑syndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital deformity, often associated with missing or deformed teeth. 23921572 2013
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
0.070 Biomarker disease BEFREE Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation associated with genetic and environmental risk factors. 22522387 2012