hu.MAP 2.0: Complex View
Human Protein Complex Map
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Complex: HuMAP2_04399
Confidence: Medium High
Proteins| Genename | Protein Name | Links |
|---|---|---|
| B9D1 | B9 domain-containing protein 1 (MKS1-related protein 1) | UniProt NCBI |
| B9D2 | B9 domain-containing protein 2 (MKS1-related protein 2) | UniProt NCBI |
| TMEM231 | Transmembrane protein 231 | UniProt NCBI |
| MKS1 | Meckel syndrome type 1 protein | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| HP:0010459 | 3.73108585383e-10 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | True hermaphroditism |
| HP:0006870 | 3.73108585383e-10 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Lobar holoprosencephaly |
| HP:0100732 | 9.93247855045e-10 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Pancreatic fibrosis |
| HP:0000068 | 1.49960950664e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Urethral atresia |
| HP:0001737 | 2.17838012543e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Pancreatic cysts |
| HP:0001747 | 2.59330967313e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Accessory spleen |
| HP:0002085 | 3.06482052279e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Occipital encephalocele |
| HP:0006706 | 5.61815427606e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cystic liver disease |
| HP:0010295 | 6.45047342807e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the tongue |
| HP:0000073 | 7.37196963208e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Ureteral duplication |
| HP:0000221 | 8.38879302961e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Furrowed tongue |
| HP:0002419 | 9.50729876689e-09 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Molar tooth sign on MRI |
| HP:0000647 | 1.07340469949e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Sclerocornea |
| HP:0009799 | 1.20758028692e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Supernumerary spleens |
| HP:0000037 | 1.20758028692e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Male pseudohermaphroditism |
| WP:WP4656 | 1.64924601505e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Joubert Syndrome |
| GO:0036038 | 1.74428263667e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | MKS complex |
| HP:0002612 | 2.29461780011e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Congenital hepatic fibrosis |
| HP:0001830 | 3.05446778457e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Postaxial foot polydactyly |
| HP:0001177 | 3.98898178813e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Preaxial hand polydactyly |
| HP:0002418 | 5.12306788392e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of midbrain morphology |
| HP:0001360 | 6.4832946833e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Holoprosencephaly |
| HP:0000528 | 6.99178838395e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Anophthalmia |
| HP:0002323 | 8.69773513849e-08 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Anencephaly |
| HP:0010322 | 1.22114134897e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the 5th toe |
| HP:0012090 | 1.38796393763e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal pancreas morphology |
| HP:0001746 | 1.38796393763e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Asplenia |
| HP:0010451 | 1.47750999812e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the spleen |
| HP:0100258 | 1.57132015673e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Preaxial polydactyly |
| HP:0011815 | 4.15090476404e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cephalocele |
| HP:0002084 | 4.15090476404e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Encephalocele |
| HP:0001162 | 4.56318975089e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Postaxial hand polydactyly |
| HP:0001696 | 4.78048450093e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Situs inversus totalis |
| HP:0011534 | 5.00544847745e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal spatial orientation of the cardiac segments |
| HP:0000293 | 5.47909957635e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Full cheeks |
| HP:0000062 | 5.7281495571e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Ambiguous genitalia |
| HP:0000003 | 6.52641742557e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Multicystic kidney dysplasia |
| HP:0001562 | 6.52641742557e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Oligohydramnios |
| HP:0008055 | 6.81017470495e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia affecting the uvea |
| HP:0008053 | 6.81017470495e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the iris |
| HP:0001829 | 7.10308544494e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Foot polydactyly |
| HP:0025633 | 7.71714837479e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal ureter morphology |
| HP:0001651 | 7.71714837479e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Dextrocardia |
| HP:0001395 | 7.71714837479e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Hepatic fibrosis |
| HP:0008062 | 8.03869622374e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0004307 | 8.03869622374e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal anatomic location of the heart |
| HP:0009136 | 8.37018885152e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Duplication involving bones of the feet |
| HP:0000457 | 9.06382231231e-07 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Depressed nasal ridge |
| HP:0001305 | 1.05794939385e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Dandy-Walker malformation |
| HP:0005445 | 1.09863975516e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Widened posterior fossa |
| HP:0000532 | 1.18353015852e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal chorioretinal morphology |
| HP:0000482 | 1.2277742766e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Microcornea |
| HP:0010950 | 1.41726731191e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the fourth ventricle |
| HP:0002198 | 1.41726731191e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Dilated fourth ventricle |
| HP:0002350 | 1.46788400162e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cerebellar cyst |
| HP:0100259 | 1.46788400162e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Postaxial polydactyly |
| HP:0000932 | 1.74159912492e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the posterior cranial fossa |
| HP:0002693 | 2.3286239826e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the skull base |
| HP:0001120 | 2.71279359751e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of corneal size |
| HP:0000610 | 2.71279359751e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal choroid morphology |
| HP:0000340 | 2.87905959836e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Sloping forehead |
| HP:0010576 | 3.14264338853e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Intracranial cystic lesion |
| HP:0030724 | 3.14264338853e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Central nervous system cyst |
| HP:0001161 | 4.3817810766e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Hand polydactyly |
| HP:0004426 | 5.25570614098e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cheek |
| GO:0035869 | 5.61829777936e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | ciliary transition zone |
| HP:0001320 | 5.81033389819e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cerebellar vermis hypoplasia |
| HP:0009997 | 7.56262422412e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Duplication of phalanx of hand |
| HP:0004275 | 7.73952771474e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Duplication of hand bones |
| HP:0009142 | 7.73952771474e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Duplication of bones involving the upper extremities |
| HP:0011119 | 8.67104454933e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the nasal dorsum |
| HP:0006817 | 9.4748313498e-06 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0007957 | 1.03332453473e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Corneal opacity |
| HP:0006487 | 1.101435917e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Bowing of the long bones |
| HP:0000368 | 1.19742271319e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Low-set, posteriorly rotated ears |
| HP:0006504 | 1.19742271319e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Anomaly of the limb diaphyses |
| HP:0000568 | 1.2995505487e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Microphthalmia |
| HP:0010442 | 1.35299730803e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Polydactyly |
| HP:0000107 | 1.52326059336e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Renal cyst |
| HP:0002334 | 1.55312844813e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebellar vermis |
| HP:0007700 | 1.55312844813e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Ocular anterior segment dysgenesis |
| HP:0030809 | 1.64537155068e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal tongue morphology |
| HP:0000940 | 1.77468104365e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal diaphysis morphology |
| HP:0001732 | 1.91146656664e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the pancreas |
| HP:0100887 | 1.94686409565e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of globe size |
| HP:0000069 | 2.3285021073e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the ureter |
| HP:0002438 | 3.69730763658e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cerebellar malformation |
| HP:0000157 | 3.75530461912e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the tongue |
| HP:0001560 | 3.75530461912e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the amniotic fluid |
| HP:0001172 | 3.81398125379e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal thumb morphology |
| WP:WP4536 | 3.97030096252e-05 | 0.75 | B9D1 TMEM231 MKS1 | Genes related to primary cilium development (based on CRISPR) |
| HP:0000238 | 5.59587856599e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Hydrocephalus |
| HP:0000795 | 6.601445667e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the urethra |
| HP:0000358 | 6.69095679469e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Posteriorly rotated ears |
| HP:0001883 | 7.53811867774e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Talipes |
| HP:0005656 | 7.83761437426e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Positional foot deformity |
| HP:0004207 | 8.67994074954e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal 5th finger morphology |
| HP:0008056 | 9.12569642606e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia affecting the eye |
| HP:0000525 | 9.35490492274e-05 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality iris morphology |
| HP:0004422 | 0.00010416435544 | 0.75 | B9D1 TMEM231 MKS1 | Biparietal narrowing |
| REAC:R-HSA-5620912 | 0.000186058065795 | 0.75 | B9D1 MKS1 B9D2 | Anchoring of the basal body to the plasma membrane |
| HP:0025408 | 0.000190608971317 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal spleen morphology |
| HP:0002921 | 0.000196596283737 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebrospinal fluid |
| HP:0000657 | 0.000197182209974 | 0.75 | B9D1 TMEM231 MKS1 | Oculomotor apraxia |
| HP:0001743 | 0.000228675733499 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the spleen |
| HP:0000553 | 0.000228675733499 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal uvea morphology |
| HP:0000309 | 0.000252141558482 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the midface |
| HP:0000175 | 0.000287971828876 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cleft palate |
| HP:0100737 | 0.00029066945725 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal hard palate morphology |
| HP:0000202 | 0.00039422713403 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Oral cleft |
| HP:0000648 | 0.000408013098756 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Optic atrophy |
| HP:0002789 | 0.000420585039486 | 0.75 | B9D1 TMEM231 MKS1 | Tachypnea |
| HP:0002251 | 0.000447962884412 | 0.75 | B9D1 TMEM231 MKS1 | Aganglionic megacolon |
| HP:0012331 | 0.000447962884412 | 0.75 | B9D1 TMEM231 MKS1 | Abnormal autonomic nervous system morphology |
| HP:0025028 | 0.000447962884412 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of enteric nervous system morphology |
| HP:0004362 | 0.000447962884412 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of enteric ganglion morphology |
| HP:0002119 | 0.000455324981017 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Ventriculomegaly |
| HP:0001780 | 0.000466803261762 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of toe |
| HP:0011314 | 0.000502542823924 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of long bone morphology |
| HP:0100763 | 0.000535999772952 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the lymphatic system |
| HP:0005918 | 0.000562168075696 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal finger phalanx morphology |
| HP:0040069 | 0.000575605829454 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal lower limb bone morphology |
| HP:0000508 | 0.000598535656279 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Ptosis |
| HP:0000316 | 0.000626948027784 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Hypertelorism |
| HP:0000481 | 0.00063177999717 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal cornea morphology |
| HP:0012795 | 0.00063177999717 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the optic disc |
| HP:0000369 | 0.000656360138619 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Low-set ears |
| HP:0007370 | 0.000676535059777 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0000028 | 0.000681650636789 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cryptorchidism |
| HP:0000347 | 0.000718276568417 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Micrognathia |
| HP:0009118 | 0.000734417055166 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the mandible |
| HP:0002553 | 0.000749481324551 | 0.75 | B9D1 TMEM231 MKS1 | Highly arched eyebrow |
| HP:0010936 | 0.000767512548487 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the lower urinary tract |
| HP:0009116 | 0.000784473582813 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia involving bones of the skull |
| HP:0000357 | 0.000831078106752 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal location of ears |
| HP:0000518 | 0.000843046683954 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Cataract |
| HP:0001273 | 0.000950073733671 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal corpus callosum morphology |
| HP:0000517 | 0.000950073733671 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the lens |
| HP:0002186 | 0.00108515711152 | 0.75 | B9D1 TMEM231 MKS1 | Apraxia |
| HP:0000612 | 0.00118902748117 | 0.75 | B9D1 TMEM231 MKS1 | Iris coloboma |
| HP:0002648 | 0.00119436083756 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of calvarial morphology |
| HP:0002118 | 0.00119436083756 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebral ventricles |
| HP:0000587 | 0.00121006304063 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the optic nerve |
| HP:0009122 | 0.00123390601074 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/hypoplasia affecting bones of the axial skeleton |
| HP:0001197 | 0.00133281843848 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of prenatal development or birth |
| HP:0001317 | 0.00141081704369 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal cerebellum morphology |
| HP:0011282 | 0.00144656055076 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of hindbrain morphology |
| HP:0011283 | 0.00144656055076 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the metencephalon |
| HP:0410042 | 0.00150144391468 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal liver morphology |
| REAC:R-HSA-5617833 | 0.00152914291965 | 0.75 | B9D1 MKS1 B9D2 | Cilium Assembly |
| HP:0002500 | 0.0016855854882 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebral white matter |
| HP:0000479 | 0.00174710644872 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal retinal morphology |
| HP:0000180 | 0.00177124047018 | 0.5 | MKS1 TMEM231 | Lobulated tongue |
| HP:0000277 | 0.00179964749209 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the mandible |
| HP:0000035 | 0.00181029629382 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal testis morphology |
| HP:0010938 | 0.00186425091236 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the external nose |
| HP:0100886 | 0.00191940269695 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of globe location |
| HP:0000426 | 0.0020673289471 | 0.75 | B9D1 TMEM231 MKS1 | Prominent nasal bridge |
| HP:0000290 | 0.00214020916981 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the forehead |
| HP:0002683 | 0.00217674116807 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the calvaria |
| HP:0000276 | 0.00218548040662 | 0.75 | B9D1 TMEM231 MKS1 | Long face |
| HP:0030791 | 0.00220135431241 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal jaw morphology |
| HP:0012210 | 0.00231470616725 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal renal morphology |
| HP:0010993 | 0.00262427571972 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebral subcortex |
| HP:0000174 | 0.00275349141688 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal palate morphology |
| HP:0000589 | 0.0028439099223 | 0.75 | B9D1 TMEM231 MKS1 | Coloboma |
| HP:0002270 | 0.0029405563548 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of the autonomic nervous system |
| HP:0410008 | 0.00303936111734 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of the peripheral nervous system |
| HP:0100729 | 0.00308958022705 | 0.75 | B9D1 TMEM231 MKS1 | Large face |
| HP:0001392 | 0.00343790618967 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the liver |
| HP:0000032 | 0.00343790618967 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of male external genitalia |
| HP:0001167 | 0.00387137589454 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of finger |
| HP:0010461 | 0.00392830704423 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the male genitalia |
| HP:0000811 | 0.00394742289359 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal external genitalia |
| HP:0009115 | 0.00400518920502 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/hypoplasia involving the skeleton |
| HP:0000356 | 0.0040831943956 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the outer ear |
| HP:0002104 | 0.00409014842826 | 0.75 | B9D1 TMEM231 MKS1 | Apnea |
| HP:0011821 | 0.00440666390875 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of facial skeleton |
| REAC:R-HSA-1852241 | 0.00476848509584 | 0.75 | B9D1 MKS1 B9D2 | Organelle biogenesis and maintenance |
| HP:0000252 | 0.00559185551754 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Microcephaly |
| HP:0040195 | 0.00569198714114 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Decreased head circumference |
| HP:0004328 | 0.00637600916282 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal anterior eye segment morphology |
| HP:0001098 | 0.00648647361662 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal fundus morphology |
| HP:0004329 | 0.00657025917884 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal posterior eye segment morphology |
| HP:0002012 | 0.00662656539009 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the abdominal organs |
| HP:0000077 | 0.00685541695101 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the kidney |
| HP:0010935 | 0.00767176498912 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the upper urinary tract |
| HP:0001760 | 0.00789481350611 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the foot |
| HP:0001627 | 0.0082551008351 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal heart morphology |
| HP:0011297 | 0.00852477096727 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal digit morphology |
| HP:0000864 | 0.00872511283479 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of the hypothalamus-pituitary axis |
| HP:0012243 | 0.00904814940852 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal reproductive system morphology |
| HP:0030669 | 0.00944700704355 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal ocular adnexa morphology |
| HP:0032039 | 0.010050524092 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the ocular adnexa |
| HP:0001155 | 0.0102449195425 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the hand |
| HP:0000925 | 0.0102449195425 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the vertebral column |
| GO:0060271 | 0.0104598779665 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | cilium assembly |
| HP:0002876 | 0.0105423007107 | 0.5 | B9D1 MKS1 | Episodic tachypnea |
| HP:0000315 | 0.0107635489378 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the orbital region |
| HP:0007364 | 0.0114711725498 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia of the cerebrum |
| GO:0044441 | 0.01169323475 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | ciliary part |
| HP:0002793 | 0.0127391041765 | 0.75 | B9D1 TMEM231 MKS1 | Abnormal pattern of respiration |
| GO:0044782 | 0.0128783441389 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | cilium organization |
| HP:0000240 | 0.0136095592172 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of skull size |
| HP:0002817 | 0.014200391729 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the upper limb |
| HP:0000078 | 0.0143510578436 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the genital system |
| HP:0002813 | 0.0148102559841 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of limb bone morphology |
| HP:0040068 | 0.0148102559841 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of limb bone |
| HP:0000113 | 0.0159281461127 | 0.5 | MKS1 TMEM231 | Polycystic kidney dysplasia |
| HP:0002814 | 0.0159791150434 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the lower limb |
| HP:0002269 | 0.017658912488 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of neuronal migration |
| HP:0000366 | 0.0178011049723 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the nose |
| HP:0030680 | 0.0188920506513 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of cardiovascular system morphology |
| HP:0011844 | 0.0199031996946 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal appendicular skeleton morphology |
| HP:0002597 | 0.0204895073105 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the vasculature |
| HP:0002977 | 0.0220467109892 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Aplasia/Hypoplasia involving the central nervous system |
| HP:0002715 | 0.0263676195075 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the immune system |
| GO:0005929 | 0.0272124122863 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | cilium |
| HP:0001250 | 0.0286671857535 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Seizures |
| HP:0000534 | 0.0291408602928 | 0.75 | B9D1 TMEM231 MKS1 | Abnormal eyebrow morphology |
| HP:0002060 | 0.0323945102494 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the cerebrum |
| HP:0000079 | 0.0328612827195 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of the urinary system |
| HP:0100547 | 0.0340021120767 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormality of forebrain morphology |
| HP:0031703 | 0.0361704819456 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal ear morphology |
| HP:0000163 | 0.0387586373799 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal oral cavity morphology |
| HP:0031816 | 0.0387586373799 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | Abnormal oral morphology |
| GO:0120031 | 0.0400391581053 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | plasma membrane bounded cell projection assembly |
| HP:0000463 | 0.0418131938681 | 0.75 | B9D1 TMEM231 MKS1 | Anteverted nares |
| GO:0030031 | 0.0433740392707 | 1.0 | B9D1 TMEM231 MKS1 B9D2 | cell projection assembly |
| HP:0005288 | 0.0453169017901 | 0.75 | B9D1 TMEM231 MKS1 | Abnormality of the nares |
| GO:0097711 | 0.0484715579516 | 0.75 | B9D1 MKS1 B9D2 | ciliary basal body-plasma membrane docking |
| CORUM:6682 | 0.0499140284799 | 0.25 | MKS1 | MKS1-TMEM67 complex |
Edges
| Protein 1 | Protein 2 | Score | Precision | Evidence |
|---|---|---|---|---|
| B9D1 | TMEM231 | 0.235 | 0.47 | bioplex (TMEM231) bioplex_WMM boldt boldt_WMM |
| B9D1 | B9D2 | 0.222 | 0.466 | bioplex_WMM gupta (B9D2) boldt (B9D2) gupta_WMM boldt_WMM |
| B9D1 | MKS1 | 0.217 | 0.465 | bioplex_WMM gupta (MKS1) boldt gupta_WMM boldt_WMM |
| MKS1 | B9D2 | 0.066 | 0.349 | bioplex_WMM gupta (B9D2,MKS1) boldt (B9D2) gupta_WMM boldt_WMM |
| B9D2 | TMEM231 | 0.054 | 0.298 | bioplex (TMEM231) bioplex_WMM boldt (B9D2) boldt_WMM |
| MKS1 | TMEM231 | 0.0 | 0.002 | bioplex (TMEM231) bioplex_WMM boldt boldt_WMM |
Images
Click to enlarge
Complex HuMAP2_04399 has an average edge precision of 0.342 which is ranked 4101 out of all 6965 complexes.
Related Complexes
| Genename | Complexes |
|---|---|
| B9D1 | HuMAP2_01958 HuMAP2_04399 |
| B9D2 | HuMAP2_01958 HuMAP2_04399 |
| TMEM231 | HuMAP2_01958 HuMAP2_04399 |
| MKS1 | HuMAP2_01958 HuMAP2_04399 |