| Human | HM13 | 81502 | histocompatibility (minor) 13 | data implicate SPP in the US2 pathway and indicate the possibility of a previously unknown function for this intramembrane-cleaving aspartic protease in dislocation from the endoplasmic reticulum |
| Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | DERL1 | 79139 | derlin 1 | Derlin-1 recognizes misfolded, nonubiquitylated CFTR to initiate its dislocation and degradation early in the course of CFTR biogenesis, perhaps by detecting structural instability within the first transmembrane domain |
| Human | NIPBL | 25836 | Nipped-B homolog (Drosophila) | Dislocation of the radial head |
| Human | ATP6V0A2 | 23545 | ATPase, H+ transporting, lysosomal V0 subunit a2 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
| Human | GNB2L1 | 10399 | guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 | propose a previously unrecognized function of plectin as cytoskeletal regulator of PKC signaling (dislocation of PKCdelta and elevated enzymatic activity), and possibly other signaling events, through sequestration of the scaffolding protein RACK1 |
| Human | GPHN | 10243 | gephyrin | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | CD96 | 10225 | CD96 molecule | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | TBX4 | 9496 | T-box 4 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | CHST3 | 9469 | carbohydrate (chondroitin 6) sulfotransferase 3 | report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations Joint dislocations in young adult (knee, hip, shoulder) |
| Human | EIF2AK3 | 9451 | eukaryotic translation initiation factor 2-alpha kinase 3 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | RECQL4 | 9401 | RecQ protein-like 4 | |
| Human | SLC6A5 | 9152 | solute carrier family 6 (neurotransmitter transporter), member 5 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | GDF5 | 8200 | growth differentiation factor 5 | Joint dislocations (elbow, knee, ankle) |
| Human | WNT7A | 7476 | wingless-type MMTV integration site family, member 7A | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | PRKCD | 5580 | protein kinase C, delta | propose a previously unrecognized function of plectin as cytoskeletal regulator of PKC signaling (dislocation of PKCdelta and elevated enzymatic activity), and possibly other signaling events, through sequestration of the scaffolding protein RACK1 |
| Human | PLEC | 5339 | plectin | propose a previously unrecognized function of plectin as cytoskeletal regulator of PKC signaling (dislocation of PKCdelta and elevated enzymatic activity), and possibly other signaling events, through sequestration of the scaffolding protein RACK1 |
| Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | MYH8 | 4626 | myosin, heavy chain 8, skeletal muscle, perinatal | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | MYH3 | 4621 | myosin, heavy chain 3, skeletal muscle, embryonic | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | LMX1B | 4010 | LIM homeobox transcription factor 1, beta | INFERRED, Score=800, UMLKSK CUI: C0012691 |
| Human | HOXD10 | 3236 | homeobox D10 | Vertical orientation of the talus with rigid dorsal dislocation of the navicular bone |
