These embeddings also matched known phenotypic associations, for example genes associated with Retinitis Pigmentosa (for example USH2A, RPGR, EYS) cluster top right, while cone-rod associated ABCA4 appears overwhelmingly on the left, with phenotypically similar PRPH2 and PROM1 occupying the space in between. Here, PROM1 is linked to retinitis pigmentosa.