| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cardiovascular phenotype |
Likely pathogenic; Pathogenic |
rs778176957, rs542489955 |
RCV004990778 RCV002460064 |
| Congenital muscular dystrophy |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV000415176 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
Pathogenic; Likely pathogenic |
rs2127950876, rs2127949580, rs747353360, rs753355121, rs775594340, rs542489955, rs1790069483, rs770271683, rs1562840744, rs1430849353, rs1583738732, rs1583734485, rs1583725395, rs758622304 |
RCV001380251 RCV001960107 RCV000148990 RCV002574060 RCV003226828 RCV000533832 RCV003531012 RCV000024197 RCV000687575 RCV000736019 RCV000813591 RCV000984515 RCV000995548 RCV001215138 |
| FKBP14-related disorder |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV004757185 |
| Hypotonia |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV000415176 |
| Joint hypermobility |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV000415176 |
| Pes valgus |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV000415176 |
| Thoracolumbar scoliosis |
Likely pathogenic; Pathogenic |
rs542489955 |
RCV000415176 |
|
| Disease Name |
Relationship Type |
References |
| Aortic Rupture |
Associate |
31949249 |
| Colorectal Neoplasms |
Associate |
35833665 |
| Developmental Disabilities |
Associate |
31063316 |
| Ehlers Danlos Syndrome |
Associate |
22265013, 31063316, 31482689, 37894834 |
| Ehlers Danlos syndrome type 6 |
Associate |
22265013, 28617417, 31063316, 31288483, 31949249, 34504686, 37433679, 37894834 |
| Epiphyseal dysplasia multiple 1 |
Associate |
24272907 |
| Foot Deformities |
Associate |
31063316 |
| Fragile X Syndrome |
Associate |
31063316 |
| Hearing Loss |
Associate |
22265013, 28617417, 31063316, 31949249 |
| Hearing Loss Sensorineural |
Associate |
22265013 |
| Joint Instability |
Associate |
28617417, 31063316, 31949249 |
| Kyphoscoliosis 1 |
Associate |
22265013, 28617417, 31063316, 31482689, 31949249 |
| Larsen Syndrome |
Associate |
37433679 |
| Muscle Hypotonia |
Associate |
31063316, 31949249 |
| Muscular Diseases |
Associate |
22265013, 28617417, 31063316 |
| Neoplastic Syndromes Hereditary |
Associate |
37433679 |
| Osteosarcoma |
Associate |
29364473 |
| Ovarian Neoplasms |
Associate |
27131312 |
| Skin Diseases |
Associate |
28617417, 31949249 |
| Soft Tissue Injuries |
Associate |
33579342 |
|