|
971
|
|
|
Prolyl 4-hydroxylase subunit alpha 2 |
MYP25, lncRNA-PE |
|
|
972
|
|
|
Protein phosphatase 1 regulatory subunit 3F |
HB2E, LL0XNC01-7P3.1, R3F |
|
|
973
|
|
|
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
BCARD, LH3 |
Bone fragility with contractures, arterial rupture, and deafness, Cataract, Congenital clubfoot, Connective tissue disease, Developmental delay, Diaphragmatic eventration, Elbow flexion contracture, Esophagus neoplasm, Myopia, Nail diseases, Nail dysplasia, Osteopenia, Rupture of artery, Scoliosis, Thoracic aortic aneurysm and aortic dissection |
|
974
|
|
|
Phospholipase C zeta 1 |
Czeta, NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17 |
|
|
975
|
|
|
Pleckstrin homology like domain family B member 2 |
LL5b, LL5beta |
|
|
976
|
|
|
Polycystin 2 like 1, transient receptor potential cation channel |
PCL, PKD2L, PKDL, TRPP3 |
|
|
977
|
|
|
Proline-serine-threonine phosphatase interacting protein 2 |
MAYP |
|
|
978
|
|
|
Proline-serine-threonine phosphatase interacting protein 1 |
AICZC, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPA, PAPAS, PSTPIP |
Acne, Arthritis, Autoinflammatory disease, Behcet syndrome, Crohn disease, Diabetes mellitus, Hidradenitis suppurativa, Holoprosencephaly, Hyperzincemia and hypercalprotectinemia, Myositis, Pancytopenia, Pyoderma, Pyoderma gangrenosum, Pyogenic arthritis, pyoderma gangrenosum and acne |
|
979
|
|
|
Protein regulator of cytokinesis 1 |
ASE1, MAP65 |
|
|
980
|
|
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
ATPSK2, BCYM4, SK2 |
Acne, Acquired kyphoscoliosis, Brachydactyly, Brachyolmia, Congenital kyphoscoliosis, Dwarfism, Hypoplasia of lower limb, Lumbar scoliosis, Precocious pubarche, Secondary physiologic amenorrhea, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia |
