Disease Term Disease ID Gene Symbol References
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 C1858517 IGHMBP2 15503272, 14681881, 19158098, 26392352, 26257172, 17431882, 16765827, 25439726, 18802676, 14506069, 15290238, 22157136, 25568292, 11528396, 24388491, 27450922, 15108294, 15269181, 26709713, 234316, 25454169, 28202949, 19157874
Spinal muscular atrophy with respiratory distress type 2 C4749434, 404521 LAS1L 24647030
Spinal muscular atrophy with respiratory distress type 1 98920 IGHMBP2