Notably, several associations rank first in their phenotype groups: ALPI in optic atrophy (1/41), CLPB in colorectal cancer (1/18), CTC1 in prostate cancer (1/10), FANCM in thoracic aneurysm (1/36), FNIP1 in atrial fibrillation and flutter (1/4), KMT2D in non-melanoma skin cancers (1/4), RIPK3 in generalized osteoarthritis (1/4), SAMHD1 in malignant mesothelioma (1/2), and SLC29A3 in atrial septal defect (1/7). The gene discussed is KMT2D; the disease is optic atrophy.