Spinal muscular atrophy with respiratory distress

Disease Term Disease ID Gene Symbol Classification References Source
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 C1858517 IGHMBP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 234316, 11528396, 14506069, 14681881, 15108294, 15269181, 15290238, 15503272, 16765827, 17431882, 18802676, 19157874, 19158098, 22157136, 24388491, 25439726, 25454169, 25568292, 26257172, 26392352, 26709713, 27450922, 28202949 -
Spinal muscular atrophy with respiratory distress type 1 98920 IGHMBP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Spinal muscular atrophy with respiratory distress type 2 404521, C4749434 LAS1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24647030 -