hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_14119.1
Confidence: Medium
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| B9D2 | B9 domain-containing protein 2 (MKS1-related protein 2) | 5 | UniProt NCBI |
| TMEM231 | Transmembrane protein 231 | 5 | UniProt NCBI |
| TCTN2 | Tectonic-2 | 5 | UniProt NCBI |
| CC2D2A | Coiled-coil and C2 domain-containing protein 2A | 5 | UniProt NCBI |
| B9D1 | B9 domain-containing protein 1 (MKS1-related protein 1) | 5 | UniProt NCBI |
| GLRB | Glycine receptor subunit beta (Glycine receptor 58 kDa subunit) | 5 | UniProt NCBI |
| POMT2 | Protein O-mannosyl-transferase 2 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 2) | 5 | UniProt NCBI |
| CNNM1 | Metal transporter CNNM1 (Ancient conserved domain-containing protein 1) (Cyclin-M1) | 4 | UniProt NCBI |
| MKS1 | Tectonic-like complex member MKS1 (Meckel syndrome type 1 protein) | 5 | UniProt NCBI |
| TMEM17 | Transmembrane protein 17 | 4 | UniProt NCBI |
| TMEM219 | Insulin-like growth factor-binding protein 3 receptor (IGFBP-3R) (Transmembrane protein 219) | 4 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| GO:0036038 | 1.9277224274e-16 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | MKS complex |
| HP:0002085 | 7.23266362837e-14 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Occipital encephalocele |
| HP:0010459 | 9.47849398169e-14 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | True hermaphroditism |
| HP:0100732 | 8.55122537355e-13 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Pancreatic fibrosis |
| HP:0006870 | 1.22124500294e-12 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Lobar holoprosencephaly |
| WP:WP4656 | 1.59865594857e-12 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | Joubert syndrome |
| HP:0000068 | 1.70924105391e-12 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Urethral atresia |
| HP:0000528 | 5.91090299366e-12 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Anophthalmia |
| HP:0001360 | 1.03446738936e-11 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Holoprosencephaly |
| HP:0010295 | 1.86537190749e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the tongue |
| HP:0001737 | 1.86537190749e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Pancreatic cysts |
| HP:0001747 | 2.312381726e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Accessory spleen |
| HP:0002323 | 2.312381726e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Anencephaly |
| HP:0000037 | 2.312381726e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Male pseudohermaphroditism |
| GO:0035869 | 4.26309060351e-11 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | ciliary transition zone |
| HP:0006706 | 7.28841121382e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Cystic liver disease |
| HP:0000221 | 8.65244503922e-11 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Furrowed tongue |
| HP:0002612 | 1.02226118947e-10 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Congenital hepatic fibrosis |
| HP:0000073 | 1.20230678191e-10 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Ureteral duplication |
| HP:0000647 | 2.20852866256e-10 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Sclerocornea |
| HP:0002084 | 2.24726193909e-10 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Encephalocele |
| HP:0011815 | 2.24726193909e-10 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cephalocele |
| WP:WP4803 | 4.58341563251e-10 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | Ciliopathies |
| HP:0000482 | 4.91832223291e-10 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Microcornea |
| HP:0001177 | 7.16360222941e-10 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Preaxial hand polydactyly |
| HP:0001305 | 8.39289339712e-10 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Dandy-Walker malformation |
| HP:0034237 | 9.40044072322e-10 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Open neural tube defect |
| HP:0004422 | 1.13099912523e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Biparietal narrowing |
| HP:0000532 | 1.88342894049e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal chorioretinal morphology |
| HP:0001830 | 2.11392855195e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Postaxial foot polydactyly |
| HP:0010950 | 2.30164159671e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal fourth ventricle morphology |
| HP:0002198 | 2.30164159671e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Dilated fourth ventricle |
| HP:0002350 | 2.93406683312e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cerebellar cyst |
| HP:0001746 | 3.10120145672e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Asplenia |
| WP:WP4536 | 3.65410500445e-09 | 0.545454545455 | B9D1 MKS1 TMEM17 TMEM231 TCTN2 CC2D2A | Genes related to primary cilium development based on CRISPR |
| HP:0001120 | 4.06565942217e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of corneal size |
| HP:0010451 | 4.84806102859e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the spleen |
| HP:0000612 | 5.08606512663e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Iris coloboma |
| HP:0009799 | 5.74490935368e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Supernumerary spleens |
| HP:0100258 | 5.74490935368e-09 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Preaxial polydactyly |
| HP:0000610 | 6.59290351009e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal choroid morphology |
| HP:0000340 | 6.59290351009e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Sloping forehead |
| HP:0005445 | 7.47959424052e-09 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Enlarged posterior fossa |
| HP:0010322 | 1.00437584029e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal fifth toe morphology |
| HP:0001162 | 1.00437584029e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Postaxial hand polydactyly |
| HP:0002789 | 1.16742233646e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Tachypnea |
| HP:0000003 | 1.16742233646e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Multicystic kidney dysplasia |
| HP:0012090 | 1.25685370106e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal pancreas morphology |
| HP:0010576 | 1.46838308935e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Intracranial cystic lesion |
| HP:0030724 | 1.58306507022e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Central nervous system cyst |
| HP:0000932 | 1.83556605392e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal posterior cranial fossa morphology |
| HP:0002419 | 2.12242892471e-08 | 0.454545454545 | B9D1 CC2D2A B9D2 MKS1 TMEM231 | Molar tooth sign on MRI |
| HP:0001696 | 2.3506440188e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Situs inversus totalis |
| HP:0011534 | 2.67861065887e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal spatial orientation of the cardiac segments |
| HP:0002693 | 2.90817217894e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal skull base morphology |
| HP:0000657 | 3.24132647617e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Oculomotor apraxia |
| HP:0000457 | 3.89906742679e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Depressed nasal ridge |
| HP:0000062 | 4.14153757931e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Ambiguous genitalia |
| HP:0000589 | 4.92711296193e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Coloboma |
| HP:0002438 | 6.92518098845e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cerebellar malformation |
| HP:0001651 | 6.94559737955e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Dextrocardia |
| HP:0004307 | 7.33657928115e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal anatomic location of the heart |
| HP:0008055 | 7.74569027285e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia affecting the uvea |
| HP:0008053 | 7.74569027285e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the iris |
| HP:0007957 | 8.04060937548e-08 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Corneal opacity |
| HP:0001829 | 9.57696867891e-08 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Foot polydactyly |
| HP:0000568 | 1.01442783572e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Microphthalmia |
| HP:0009136 | 1.17547040268e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Duplication involving bones of the feet |
| HP:0008062 | 1.23590566699e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0001320 | 1.27015156154e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cerebellar vermis hypoplasia |
| HP:0000293 | 1.43292220392e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Full cheeks |
| HP:0002876 | 1.44703535921e-07 | 0.454545454545 | TCTN2 B9D1 MKS1 B9D2 CC2D2A | Episodic tachypnea |
| HP:0001395 | 1.50412409164e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Hepatic fibrosis |
| HP:0100259 | 1.50412409164e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Postaxial polydactyly |
| HP:0410043 | 1.53724682174e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal neural tube morphology |
| HP:0045005 | 1.53724682174e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Neural tube defect |
| HP:0002251 | 2.08964787546e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Aganglionic megacolon |
| HP:0004362 | 2.08964787546e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal enteric ganglion morphology |
| HP:0100887 | 2.16185235219e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of globe size |
| HP:0025633 | 2.18695395333e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal ureter morphology |
| HP:0012331 | 2.18695395333e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal autonomic nervous system morphology |
| HP:0025028 | 2.18695395333e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal enteric nervous system morphology |
| HP:0006817 | 2.33334895195e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0007700 | 2.84857934619e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Ocular anterior segment dysgenesis |
| HP:0030809 | 5.36722127737e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal tongue morphology |
| HP:0001161 | 5.7143099812e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Hand polydactyly |
| HP:0002334 | 6.54756993829e-07 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebellar vermis morphology |
| HP:0001562 | 6.65368936911e-07 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Oligohydramnios |
| HP:0002418 | 8.46998882071e-07 | 0.454545454545 | B9D1 CC2D2A B9D2 MKS1 TMEM231 | Abnormal midbrain morphology |
| REAC:R-HSA-5620912 | 1.08690843358e-06 | 0.454545454545 | TCTN2 B9D1 MKS1 B9D2 CC2D2A | Anchoring of the basal body to the plasma membrane |
| HP:0000238 | 1.19765252108e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Hydrocephalus |
| HP:0002553 | 1.22009092011e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Highly arched eyebrow |
| HP:0000481 | 1.33471785492e-06 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal cornea morphology |
| HP:0002186 | 1.69636562815e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Apraxia |
| HP:0000157 | 2.24394469691e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the tongue |
| HP:0000525 | 2.59119344414e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality iris morphology |
| HPA:0060873 | 2.65989090265e-06 | 0.454545454545 | TCTN2 B9D1 CC2D2A B9D2 TMEM231 | bronchus; ciliated cells (ciliary rootlets)[High] |
| HP:0009997 | 2.77372486839e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Duplication of phalanx of hand |
| HP:0004275 | 2.85650751817e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Duplication of hand bones |
| HP:0009142 | 2.85650751817e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Duplication of bones involving the upper extremities |
| HP:0000358 | 2.93166237163e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Posteriorly rotated ears |
| HP:0002104 | 2.94133029206e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Apnea |
| HP:0000426 | 3.20843949742e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Prominent nasal bridge |
| HP:0008056 | 3.42489602473e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia affecting the eye |
| HP:0001321 | 3.48382786239e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cerebellar hypoplasia |
| HP:0011119 | 3.69824518619e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal nasal dorsum morphology |
| HP:0000368 | 3.80328623042e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Low-set, posteriorly rotated ears |
| HP:0002269 | 4.26135391516e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of neuronal migration |
| HP:0004426 | 4.86512949038e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal cheek morphology |
| HP:0010442 | 5.55417941671e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Polydactyly |
| HP:0000276 | 5.70125878051e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Long face |
| HP:0000107 | 8.32580519572e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Renal cyst |
| HP:0006487 | 8.955278041e-06 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Bowing of the long bones |
| HP:0007360 | 9.43800441541e-06 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the cerebellum |
| HP:0100729 | 1.0091910542e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Large face |
| HP:0002270 | 1.03329967207e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the autonomic nervous system |
| GO:0060271 | 1.16740027018e-05 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | cilium assembly |
| HP:0000553 | 1.33152841561e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal uvea morphology |
| HP:0001732 | 1.39276794594e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the pancreas |
| HP:0000940 | 1.55608413757e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal diaphysis morphology |
| HP:0000175 | 1.72785776412e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cleft palate |
| GO:0044782 | 1.91241437391e-05 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | cilium organization |
| HP:0000648 | 1.92254468614e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Optic atrophy |
| HP:0002921 | 2.02669418964e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebrospinal fluid morphology |
| HP:0025033 | 2.35642829501e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal digestive system morphology |
| HP:0004305 | 2.44106173212e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Involuntary movements |
| HP:0000202 | 2.82809950365e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Orofacial cleft |
| HP:5201015 | 2.93589026929e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Craniofacial cleft |
| HPA:0210873 | 3.3259335881e-05 | 0.454545454545 | TCTN2 B9D1 CC2D2A B9D2 TMEM231 | fallopian tube; ciliated cells (ciliary rootlets)[High] |
| GO:0007224 | 3.36618758141e-05 | 0.454545454545 | TCTN2 B9D1 TMEM17 TMEM231 CC2D2A | smoothened signaling pathway |
| REAC:R-HSA-5617833 | 3.85503531919e-05 | 0.454545454545 | TCTN2 B9D1 MKS1 B9D2 CC2D2A | Cilium Assembly |
| HP:0000864 | 5.01499901128e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the hypothalamus-pituitary axis |
| HP:0000486 | 5.02360726855e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Strabismus |
| HP:0000069 | 5.19790620334e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the ureter |
| HP:0011443 | 6.36397440067e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormality of coordination |
| HP:0000549 | 6.51367692155e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal conjugate eye movement |
| HP:0001288 | 6.92793182293e-05 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Gait disturbance |
| HP:0001172 | 7.60157470072e-05 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal thumb morphology |
| HP:0012795 | 8.71502609347e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal optic disc morphology |
| HP:0040069 | 8.80756370218e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal lower limb bone morphology |
| HP:0000028 | 9.38052188384e-05 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cryptorchidism |
| HP:0002126 | 0.000105037068708 | 0.454545454545 | TCTN2 MKS1 POMT2 B9D2 B9D1 | Polymicrogyria |
| HP:0002119 | 0.000109532898371 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Ventriculomegaly |
| HP:0007370 | 0.000117606588316 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0410008 | 0.000119245642922 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the peripheral nervous system |
| HP:0004328 | 0.000140948755203 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal anterior eye segment morphology |
| HP:0000518 | 0.000143517512949 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Cataract |
| HP:0001560 | 0.000145309305594 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the amniotic fluid |
| HP:0000795 | 0.000151947678022 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the urethra |
| HP:0001883 | 0.000168416897682 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Talipes |
| GO:0120031 | 0.000169712293062 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | plasma membrane bounded cell projection assembly |
| HP:0000517 | 0.00017083520047 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal lens morphology |
| HP:0005656 | 0.000178471819899 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Positional foot deformity |
| HP:0000463 | 0.000181061538096 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Anteverted nares |
| HP:0000347 | 0.000186072414264 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Micrognathia |
| HP:0009118 | 0.000189610770815 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the mandible |
| GO:0030031 | 0.000201327511811 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | cell projection assembly |
| HP:0009116 | 0.000206249431872 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia involving bones of the skull |
| HP:0000587 | 0.000216017341235 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal optic nerve morphology |
| HP:0005288 | 0.000223790360074 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal nostril morphology |
| HP:0033725 | 0.000241075864732 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Thin corpus callosum |
| REAC:R-HSA-1852241 | 0.000248164435679 | 0.454545454545 | TCTN2 B9D1 MKS1 B9D2 CC2D2A | Organelle biogenesis and maintenance |
| HP:0004207 | 0.000249783294898 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal 5th finger morphology |
| HP:0000369 | 0.000278293089971 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Low-set ears |
| GO:0005929 | 0.000298332697942 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | cilium |
| HPA:0210872 | 0.00032608939299 | 0.545454545455 | TMEM219 CC2D2A B9D1 TMEM231 TCTN2 B9D2 | fallopian tube; ciliated cells (ciliary rootlets)[>=Medium] |
| HPA:0060872 | 0.00034941468189 | 0.454545454545 | TCTN2 B9D1 CC2D2A B9D2 TMEM231 | bronchus; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0000479 | 0.000403317740616 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal retinal morphology |
| HP:0001273 | 0.000406714006549 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal corpus callosum morphology |
| HP:0000357 | 0.000406714006549 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal location of ears |
| HP:0025408 | 0.000414904421399 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal spleen morphology |
| HP:0009122 | 0.000420542768589 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/hypoplasia affecting bones of the axial skeleton |
| HP:0000035 | 0.000445703409324 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal testis morphology |
| HP:0012718 | 0.00046444695629 | 0.636363636364 | B9D1 CC2D2A GLRB TMEM231 TCTN2 MKS1 B9D2 | Abnormal gastrointestinal tract morphology |
| HP:0001197 | 0.000491808105439 | 0.636363636364 | B9D1 CC2D2A GLRB TMEM231 TCTN2 MKS1 B9D2 | Abnormality of prenatal development or birth |
| HP:0002118 | 0.000516336732675 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebral ventricle morphology |
| HP:0001743 | 0.000555202016981 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the spleen |
| HP:0000429 | 0.000568469488726 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal morphology of the nasal alae |
| HP:0008872 | 0.000624182944805 | 0.545454545455 | B9D1 MKS1 POMT2 CC2D2A TCTN2 B9D2 | Feeding difficulties in infancy |
| HP:0001317 | 0.00071889312537 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebellum morphology |
| HP:0011283 | 0.000741279822096 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal metencephalon morphology |
| HP:0011282 | 0.000741279822096 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal hindbrain morphology |
| HP:0001251 | 0.000781878718842 | 0.636363636364 | B9D1 CC2D2A GLRB TMEM231 TCTN2 MKS1 B9D2 | Ataxia |
| HP:0000309 | 0.000964344664329 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal midface morphology |
| HP:0002650 | 0.00109847544721 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Scoliosis |
| HPA:0060871 | 0.00120729177815 | 0.454545454545 | TCTN2 B9D1 CC2D2A B9D2 TMEM231 | bronchus; ciliated cells (ciliary rootlets)[>=Low] |
| HP:0012210 | 0.0012140662766 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal renal morphology |
| HP:0000277 | 0.00125776833102 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal mandible morphology |
| HP:0002500 | 0.00128462309811 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebral white matter morphology |
| HP:0000534 | 0.00129257798334 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal eyebrow morphology |
| HP:0000032 | 0.00130279456123 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal male external genitalia morphology |
| HPA:0210871 | 0.00135699270148 | 0.545454545455 | TMEM219 CC2D2A B9D1 TMEM231 TCTN2 B9D2 | fallopian tube; ciliated cells (ciliary rootlets)[>=Low] |
| HP:0005918 | 0.00137367147306 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal finger phalanx morphology |
| HP:0000496 | 0.00147143867749 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormality of eye movement |
| HP:0000174 | 0.00147636251965 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal palate morphology |
| HP:0000811 | 0.00172627628048 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal external genitalia |
| HP:0010461 | 0.00173790655222 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the male genitalia |
| HP:0030791 | 0.00177319581347 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal jaw morphology |
| HP:0002814 | 0.00179987934099 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormality of the lower limb |
| HP:0001780 | 0.00186233066112 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal toe morphology |
| HP:0010674 | 0.00187027697086 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal curvature of the vertebral column |
| HP:0000290 | 0.00201107492991 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the forehead |
| HP:0011844 | 0.00206585656695 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal appendicular skeleton morphology |
| HP:0100763 | 0.00208623704801 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the lymphatic system |
| HP:0010993 | 0.00214674942972 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cerebral subcortex morphology |
| HP:0009115 | 0.00224625778449 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/hypoplasia involving the skeleton |
| HP:0000204 | 0.00240681128437 | 0.363636363636 | TCTN2 MKS1 CC2D2A POMT2 | Cleft upper lip |
| HP:0002793 | 0.00241877003548 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal pattern of respiration |
| HP:0011314 | 0.00253118976096 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal long bone morphology |
| HP:0002536 | 0.00259648518948 | 0.454545454545 | TCTN2 MKS1 POMT2 B9D2 B9D1 | Abnormal cortical gyration |
| HP:0000508 | 0.00281861006291 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Ptosis |
| HP:0002242 | 0.00284372347161 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal intestine morphology |
| HP:0011461 | 0.00316258828199 | 0.363636363636 | B9D1 MKS1 B9D2 CC2D2A | Fetal onset |
| HP:0000377 | 0.00343363487057 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal pinna morphology |
| HP:0001250 | 0.00356246826982 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Seizure |
| HP:0011442 | 0.0036111316842 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal central motor function |
| HP:0000356 | 0.00369021578809 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the outer ear |
| HP:0100022 | 0.00435515997211 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormality of movement |
| HP:0001249 | 0.00445196659743 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Intellectual disability |
| HP:0000316 | 0.00446459521839 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Hypertelorism |
| HP:0001098 | 0.00450676956871 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal fundus morphology |
| HP:0004329 | 0.004638809999 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal posterior eye segment morphology |
| HP:0011821 | 0.0047195896479 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal facial skeleton morphology |
| HP:0000252 | 0.004856859342 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Microcephaly |
| HP:0040195 | 0.00517074741567 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Decreased head circumference |
| HP:0012243 | 0.00522961668724 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal reproductive system morphology |
| HP:0000113 | 0.00530979950394 | 0.272727272727 | TCTN2 TMEM231 MKS1 | Polycystic kidney dysplasia |
| HPA:0320872 | 0.00571604294059 | 0.363636363636 | B9D1 CC2D2A B9D2 TMEM231 | nasopharynx; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0000077 | 0.00585007443241 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the kidney |
| HP:0410042 | 0.00585578284379 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal liver morphology |
| HP:0010936 | 0.00590152345283 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the lower urinary tract |
| HP:0002795 | 0.00621700469794 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal respiratory system physiology |
| HP:0010935 | 0.00674848302427 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the upper urinary tract |
| HP:0030674 | 0.00739326993937 | 0.363636363636 | B9D1 MKS1 B9D2 CC2D2A | Antenatal onset |
| HP:0003808 | 0.00774306640802 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal muscle tone |
| HP:0010938 | 0.00792830744912 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal external nose morphology |
| HP:0001760 | 0.00922635658966 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal foot morphology |
| HP:0410030 | 0.00926977225384 | 0.363636363636 | TCTN2 MKS1 CC2D2A POMT2 | Cleft lip |
| HP:0001627 | 0.00991513479103 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal heart morphology |
| HP:0000925 | 0.0105929744727 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the vertebral column |
| GO:0070925 | 0.0107302104388 | 0.636363636364 | B9D1 CC2D2A TMEM17 TMEM231 TCTN2 MKS1 B9D2 | organelle assembly |
| HPA:0320871 | 0.0108050266698 | 0.363636363636 | B9D1 CC2D2A B9D2 TMEM231 | nasopharynx; ciliated cells (ciliary rootlets)[>=Low] |
| HP:0002683 | 0.0119676278974 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal calvaria morphology |
| HP:0006563 | 0.0133195302426 | 0.181818181818 | B9D2 MKS1 | Malformation of the hepatic ductal plate |
| GO:0120025 | 0.014382067259 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM17 TMEM231 TCTN2 MKS1 B9D2 | plasma membrane bounded cell projection |
| HP:0007364 | 0.0149514165247 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia of the cerebrum |
| HP:0003577 | 0.0152270144537 | 0.545454545455 | MKS1 GLRB TMEM231 POMT2 TCTN2 CC2D2A | Congenital onset |
| HP:0031703 | 0.0153131659602 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal ear morphology |
| HP:0000422 | 0.0154274207304 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal nasal bridge morphology |
| HP:0040064 | 0.0154332415192 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormality of limbs |
| GO:0042995 | 0.0155283593575 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM17 TMEM231 TCTN2 MKS1 B9D2 | cell projection |
| HPA:0320873 | 0.0156508485772 | 0.272727272727 | B9D1 B9D2 CC2D2A | nasopharynx; ciliated cells (ciliary rootlets)[High] |
| HP:0000240 | 0.0161349765088 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of skull size |
| HP:0000078 | 0.0170734516648 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the genital system |
| HP:0005922 | 0.0175526553082 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal hand morphology |
| HP:0012372 | 0.0177346696976 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal eye morphology |
| HP:0000639 | 0.0181196687439 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Nystagmus |
| HP:0012758 | 0.0181237281211 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Neurodevelopmental delay |
| HP:0012373 | 0.0186538632269 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal eye physiology |
| HP:0012547 | 0.0197873372854 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal involuntary eye movements |
| HP:0001392 | 0.0206669393011 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the liver |
| HP:0001337 | 0.0215621415089 | 0.454545454545 | TCTN2 B9D1 MKS1 B9D2 CC2D2A | Tremor |
| HP:0002817 | 0.0220826881707 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the upper limb |
| HP:0011024 | 0.0223825366503 | 0.636363636364 | B9D1 CC2D2A GLRB TMEM231 TCTN2 MKS1 B9D2 | Abnormality of the gastrointestinal tract |
| HP:0002813 | 0.0226857946087 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal limb bone morphology |
| HP:0040068 | 0.0226857946087 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormality of limb bone |
| HP:0001999 | 0.0232164426301 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal facial shape |
| HP:0100886 | 0.0236414591102 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormality of globe location |
| HP:0011804 | 0.0236417858923 | 0.727272727273 | B9D1 CC2D2A GLRB TMEM231 POMT2 TCTN2 MKS1 B9D2 | Abnormal muscle physiology |
| HP:0000618 | 0.029207550671 | 0.363636363636 | POMT2 MKS1 TMEM231 CC2D2A | Blindness |
| HP:0011968 | 0.0335686928229 | 0.545454545455 | B9D1 MKS1 POMT2 CC2D2A TCTN2 B9D2 | Feeding difficulties |
| HP:0001252 | 0.0355552070229 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Hypotonia |
| HP:0000539 | 0.0389769546468 | 0.454545454545 | TCTN2 MKS1 POMT2 CC2D2A GLRB | Abnormality of refraction |
| HP:0001167 | 0.0421261699496 | 0.545454545455 | B9D1 CC2D2A TMEM231 TCTN2 MKS1 B9D2 | Abnormal finger morphology |
| HP:0000556 | 0.044438249248 | 0.363636363636 | POMT2 MKS1 TMEM231 CC2D2A | Retinal dystrophy |
| HP:0030680 | 0.0445279198742 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Abnormal cardiovascular system morphology |
| HP:0002977 | 0.0452482817515 | 0.636363636364 | B9D1 CC2D2A POMT2 TMEM231 TCTN2 MKS1 B9D2 | Aplasia/Hypoplasia involving the central nervous system |
| HP:0000180 | 0.0498048563326 | 0.181818181818 | TMEM231 MKS1 | Lobulated tongue |
| CORUM:7459 | 0.049976851631 | 0.0909090909091 | GLRB | Glycine receptor (GLRA11, GLRB) |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD |
|---|---|---|---|
| B9D1 | B9D2 | 1.0 | |
| B9D2 | TMEM231 | 0.999 | |
| B9D1 | TMEM231 | 0.999 | 0.096 |
| TCTN2 | TMEM231 | 0.998 | |
| B9D1 | TCTN2 | 0.998 | |
| B9D2 | CC2D2A | 0.997 | |
| B9D2 | MKS1 | 0.996 | |
| TMEM231 | MKS1 | 0.992 | |
| GLRB | TCTN2 | 0.988 | |
| TMEM231 | TMEM17 | 0.988 | |
| TCTN2 | B9D2 | 0.986 | |
| TMEM231 | CC2D2A | 0.984 | 0.074 |
| B9D1 | MKS1 | 0.977 | |
| TCTN2 | MKS1 | 0.977 | |
| TCTN2 | CC2D2A | 0.967 | |
| TCTN2 | POMT2 | 0.961 | |
| B9D1 | TMEM17 | 0.902 | |
| CC2D2A | TMEM17 | 0.902 | |
| B9D2 | TMEM17 | 0.902 | |
| B9D1 | CC2D2A | 0.86 | 0.126 |
| CNNM1 | TCTN2 | 0.856 | |
| TCTN2 | TMEM219 | 0.856 | |
| CNNM1 | POMT2 | 0.834 | |
| GLRB | TMEM219 | 0.823 | |
| CC2D2A | MKS1 | 0.779 | |
| CNNM1 | TMEM219 | 0.733 | |
| GLRB | TMEM231 | 0.724 | |
| CNNM1 | GLRB | 0.699 | |
| TMEM231 | TMEM219 | 0.676 | |
| CNNM1 | TMEM231 | 0.619 | |
| GLRB | POMT2 | 0.598 | |
| TMEM231 | POMT2 | 0.551 | 0.084 |
| POMT2 | TMEM219 | 0.474 | |
| TCTN2 | TMEM17 | 0.343 | |
| MKS1 | TMEM17 | 0.343 | |
| B9D1 | TMEM219 | 0.192 | |
| B9D1 | GLRB | 0.166 | |
| CNNM1 | B9D1 | 0.143 | |
| CC2D2A | TMEM219 | 0.042 | |
| B9D2 | TMEM219 | 0.042 | |
| GLRB | CC2D2A | 0.041 | |
| GLRB | B9D2 | 0.041 | |
| B9D1 | POMT2 | 0.039 | 0.084 |
| CNNM1 | CC2D2A | 0.026 | |
| CNNM1 | B9D2 | 0.026 | |
| B9D2 | POMT2 | 0.026 | |
| CC2D2A | POMT2 | 0.026 | 0.074 |
| MKS1 | TMEM219 | 0.017 | |
| GLRB | MKS1 | 0.009 | |
| CNNM1 | MKS1 | 0.008 | |
| MKS1 | POMT2 | 0.008 |
Related Complexes