LRRC32, leucine rich repeat containing 32, 2615

N. diseases: 58; N. variants: 3
Disease: Uranostaphyloschisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.110 GeneticVariation disease BEFREE Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. 30976112 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.110 GeneticVariation disease CLINVAR