hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_14150.1
Confidence: Medium
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| LZTFL1 | Leucine zipper transcription factor-like protein 1 | 5 | UniProt NCBI |
| TTC8 | Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet-Biedl syndrome 8 protein) | 5 | UniProt NCBI |
| RBFOX3 | RNA binding protein fox-1 homolog 3 (Fox-1 homolog C) (Neuronal nuclei antigen) (NeuN antigen) | 4 | UniProt NCBI |
| BBIP1 | BBSome-interacting protein 1 (BBSome-interacting protein of 10 kDa) | 5 | UniProt NCBI |
| BBS4 | Bardet-Biedl syndrome 4 protein | 5 | UniProt NCBI |
| BBS1 | Bardet-Biedl syndrome 1 protein (BBS2-like protein 2) | 5 | UniProt NCBI |
| BBS2 | Bardet-Biedl syndrome 2 protein | 5 | UniProt NCBI |
| BBS7 | Bardet-Biedl syndrome 7 protein (BBS2-like protein 1) | 5 | UniProt NCBI |
| BBS9 | Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein) | 5 | UniProt NCBI |
| BBS5 | Bardet-Biedl syndrome 5 protein | 5 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| CORUM:6163 | 6.37461695557e-26 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | BBSome |
| REAC:R-HSA-5620922 | 8.48332206153e-24 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | BBSome-mediated cargo-targeting to cilium |
| GO:0034464 | 4.36661261456e-23 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | BBSome |
| HP:0025691 | 2.39264423157e-22 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Impaired fasting glucose |
| HP:0005769 | 3.65911253101e-22 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Fifth finger distal phalanx clinodactyly |
| HP:0030010 | 5.48833023827e-22 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hydrometrocolpos |
| HP:0008376 | 1.17262482497e-21 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Nasal dysarthria |
| HP:0008915 | 1.17262482497e-21 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Childhood-onset truncal obesity |
| HP:0004225 | 3.28353621958e-21 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the distal phalanx of the 5th finger |
| HP:0010747 | 4.51458370799e-21 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Medial flaring of the eyebrow |
| HP:0011026 | 1.1018174425e-20 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Aplasia/Hypoplasia of the vagina |
| REAC:R-HSA-5620920 | 3.17483968912e-20 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cargo trafficking to the periciliary membrane |
| HP:0003233 | 8.29295845527e-20 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Decreased HDL cholesterol concentration |
| HP:0000548 | 1.03655579388e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cone/cone-rod dystrophy |
| HP:0031888 | 1.28861140323e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal HDL cholesterol concentration |
| HP:0002608 | 1.59371040829e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Celiac disease |
| HP:0004213 | 1.96136858553e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal 5th finger phalanx morphology |
| HP:0000858 | 5.18115127144e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Irregular menstruation |
| HP:0010981 | 5.18115127144e-19 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypolipoproteinemia |
| WP:WP5234 | 1.669808011e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Bardet Biedl syndrome |
| HP:0000011 | 2.02648283914e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Neurogenic bladder |
| HP:0003074 | 4.99462553922e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hyperglycemia |
| HP:0008724 | 6.61917645158e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypoplasia of the ovary |
| HP:0001956 | 8.69731299676e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Truncal obesity |
| HP:0010462 | 8.69731299676e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Aplasia/Hypoplasia of the ovary |
| HP:0005562 | 9.93917145832e-18 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Multiple renal cysts |
| HP:0010979 | 1.13361661614e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of lipoprotein cholesterol concentration |
| HP:0012384 | 2.12879408349e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Rhinitis |
| HP:0002230 | 5.36537722729e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Generalized hirsutism |
| HP:0000855 | 6.66540760653e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Insulin resistance |
| HP:0002037 | 7.41480680951e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Inflammation of the large intestine |
| HP:0000147 | 8.23816406306e-17 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Polycystic ovaries |
| HP:0000138 | 1.83470969454e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Ovarian cyst |
| HP:0002155 | 2.92512364056e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypertriglyceridemia |
| HP:0000142 | 3.50201652864e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal vagina morphology |
| HP:0004408 | 4.55740703531e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the sense of smell |
| HP:0000100 | 4.55740703531e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Nephrotic syndrome |
| HP:0000551 | 9.61757963434e-16 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Color vision defect |
| WP:WP4803 | 1.39015550206e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Ciliopathies |
| HP:0000678 | 1.41986763064e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Dental crowding |
| GO:0060170 | 1.67991753511e-15 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | ciliary membrane |
| HP:0100259 | 1.91646487677e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Postaxial polydactyly |
| HP:0001395 | 1.91646487677e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hepatic fibrosis |
| HP:0003107 | 2.0625079072e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal circulating cholesterol concentration |
| HP:0004386 | 2.0625079072e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Gastrointestinal inflammation |
| HP:0003077 | 2.21835819854e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hyperlipidemia |
| HP:0000085 | 2.75060800128e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Horseshoe kidney |
| HP:0002251 | 3.16572763695e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Aganglionic megacolon |
| HP:0004362 | 3.16572763695e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal enteric ganglion morphology |
| HP:0025028 | 3.39344930446e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal enteric nervous system morphology |
| HP:0012331 | 3.39344930446e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal autonomic nervous system morphology |
| HP:0002099 | 3.89301284247e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Asthma |
| HP:0008734 | 4.45688946545e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Decreased testicular size |
| HP:0031065 | 5.43906564274e-15 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal ovarian morphology |
| HP:0000712 | 1.02498287699e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Emotional lability |
| WP:WP4536 | 1.33789777456e-14 | 0.8 | BBS9 BBS4 BBS1 BBS5 BBS7 TTC8 BBS2 LZTFL1 | Genes related to primary cilium development based on CRISPR |
| HP:0010468 | 1.46881754014e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Aplasia/Hypoplasia of the testes |
| HP:0000691 | 1.46881754014e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Microdontia |
| HP:0001397 | 1.96136483991e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hepatic steatosis |
| REAC:R-HSA-5617833 | 1.99618710022e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cilium Assembly |
| WP:WP4352 | 2.04680372183e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Ciliary landscape |
| HP:0006561 | 2.19625814573e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Lipid accumulation in hepatocytes |
| HP:0012622 | 2.45582336021e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Chronic kidney disease |
| HP:0000512 | 2.59555052628e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal electroretinogram |
| HP:0045058 | 3.22778351998e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the testis size |
| HP:0031137 | 3.40579270687e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Storage in hepatocytes |
| HP:0000662 | 4.43343893298e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Nyctalopia |
| HP:0005978 | 5.17455972212e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Type II diabetes mellitus |
| HP:0000789 | 5.17455972212e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Infertility |
| HP:0034644 | 5.72789069891e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal liver metabolite concentration |
| HP:0100326 | 6.33318590613e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Immunologic hypersensitivity |
| HP:0006101 | 6.99466415812e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Finger syndactyly |
| HP:0000510 | 7.71683429961e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Rod-cone dystrophy |
| HP:0000483 | 9.8201876826e-14 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Astigmatism |
| HP:0001007 | 1.02972847231e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hirsutism |
| HP:0000137 | 1.30057297321e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the ovary |
| HP:0000076 | 1.30057297321e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Vesicoureteral reflux |
| HP:0031466 | 1.4918975544e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Impairment in personality functioning |
| HP:0000668 | 1.4918975544e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypodontia |
| HP:0030453 | 1.70783299665e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal visual electrophysiology |
| HP:0000426 | 2.03877704056e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Prominent nasal bridge |
| HP:0000368 | 2.64229845535e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Low-set, posteriorly rotated ears |
| HP:0100542 | 2.9997879859e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal localization of kidney |
| HP:0025634 | 3.39962240762e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal ureter physiology |
| HP:0000717 | 3.39962240762e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Autism |
| HP:0000613 | 4.00612961582e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Photophobia |
| HP:0002244 | 4.34399002075e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal small intestine morphology |
| HP:0000126 | 4.70693389776e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hydronephrosis |
| HP:0010442 | 4.70693389776e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Polydactyly |
| WP:WP4656 | 5.50252707123e-13 | 0.7 | BBS9 BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | Joubert syndrome |
| REAC:R-HSA-1852241 | 6.16948844437e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Organelle biogenesis and maintenance |
| HP:0000144 | 7.50810427974e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Decreased fertility |
| HP:0000400 | 8.09703201173e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Macrotia |
| HP:0032243 | 8.09703201173e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal tissue metabolite concentration |
| HP:0000107 | 8.72665072584e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Renal cyst |
| HP:0006482 | 9.05747614617e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal dental morphology |
| HP:0010946 | 9.05747614617e-13 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Dilatation of the renal pelvis |
| HP:0000140 | 1.08846531634e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the menstrual cycle |
| HP:0002270 | 1.21318123598e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the autonomic nervous system |
| HP:0010944 | 1.25748723825e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal renal pelvis morphology |
| HP:0003119 | 1.3504350224e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal circulating lipid concentration |
| HP:5200058 | 1.39915836937e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Sensory hypersensitivity |
| HP:0000618 | 1.78627531044e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Blindness |
| HP:5200046 | 2.11831096556e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Sensory behavioral abnormality |
| HP:0011015 | 2.26577338005e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal blood glucose concentration |
| HP:0001328 | 3.04851237166e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Specific learning disability |
| HP:0002250 | 3.25203985152e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal large intestine morphology |
| HP:0100691 | 3.9369997957e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the curvature of the cornea |
| HP:0000388 | 4.19224337146e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Otitis media |
| HP:0000556 | 4.74724545432e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Retinal dystrophy |
| HP:0030012 | 7.67767489132e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal female reproductive system physiology |
| HP:0009804 | 7.67767489132e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Tooth agenesis |
| CORUM:6165 | 8.06664600281e-12 | 0.4 | BBS1 BBS7 BBS9 BBS2 | BBSome core complex |
| HP:0002910 | 8.62426887541e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Elevated hepatic transaminase |
| HP:0000278 | 9.13534572146e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Retrognathia |
| HP:0000821 | 9.67315300768e-12 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypothyroidism |
| HP:0001156 | 1.24577541121e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Brachydactyly |
| HP:0000069 | 1.42943687494e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the ureter |
| HP:0002926 | 1.42943687494e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of thyroid physiology |
| HP:0000470 | 1.59328563067e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Short neck |
| HP:0000822 | 1.59328563067e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypertension |
| HP:0008736 | 1.97184076998e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypoplasia of penis |
| HP:0006483 | 1.97184076998e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal number of teeth |
| HP:0001513 | 2.07814649087e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Obesity |
| HP:0001762 | 2.24715941236e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Talipes equinovarus |
| HP:0000083 | 2.30615002579e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Renal insufficiency |
| HP:0004209 | 2.49146340307e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Clinodactyly of the 5th finger |
| HP:0009179 | 2.55610931981e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Deviation of the 5th finger |
| HP:0000692 | 2.62224099444e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Tooth malposition |
| HP:0000135 | 2.62224099444e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypogonadism |
| HP:0001159 | 2.75908119028e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Syndactyly |
| HP:0000716 | 2.82985077766e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Depression |
| HP:0000343 | 3.72171650623e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Long philtrum |
| CORUM:6601 | 4.03199797571e-11 | 0.4 | TTC8 BBS1 BBS5 BBS4 | BBS1-BBS4-BBS5-PKD1-TTC8 complex |
| HP:0003319 | 4.10319008915e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the cervical spine |
| HP:0040019 | 4.85500965186e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Finger clinodactyly |
| HP:0410008 | 5.0911632174e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the peripheral nervous system |
| HP:0000819 | 5.33746542027e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Diabetes mellitus |
| HP:0032263 | 5.46454029429e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Increased blood pressure |
| HP:0001952 | 6.43192751753e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Glucose intolerance |
| HP:0000008 | 7.21316439827e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal morphology of female internal genitalia |
| HP:0000358 | 7.21316439827e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Posteriorly rotated ears |
| HP:5200230 | 7.54853223656e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Maladaptive fear-related cognitions |
| HP:0000739 | 7.54853223656e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Anxiety |
| HP:0004324 | 8.2610969202e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Increased body weight |
| HP:0001883 | 8.63929336664e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Talipes |
| HP:0005656 | 9.44212806769e-11 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Positional foot deformity |
| HP:0000050 | 1.00870503447e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypoplastic male external genitalia |
| HP:5200401 | 1.07708047143e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal judgment |
| HP:0000009 | 1.17464015323e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Functional abnormality of the bladder |
| HP:0000736 | 1.5161192249e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Short attention span |
| HP:0000494 | 1.5161192249e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Downslanted palpebral fissures |
| HP:0004207 | 1.58088848828e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal 5th finger morphology |
| HP:5200044 | 1.71784533781e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Reduced attention regulation |
| HP:0003241 | 1.71784533781e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | External genital hypoplasia |
| HP:0030972 | 1.71784533781e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal systemic blood pressure |
| HP:0000820 | 1.79019588167e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the thyroid gland |
| HP:0000812 | 2.10742121663e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal internal genitalia |
| HP:0004097 | 2.1503913632e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Deviation of finger |
| HP:0000014 | 2.33015926131e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the bladder |
| HP:0009484 | 3.31535337313e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Deviation of the hand or of fingers of the hand |
| HP:0010460 | 3.71761466956e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the female genitalia |
| HP:0001382 | 3.78871442077e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Joint hypermobility |
| HP:0030084 | 3.78871442077e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Clinodactyly |
| GO:0031253 | 4.22977320188e-10 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cell projection membrane |
| HP:0001638 | 4.48502667489e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cardiomyopathy |
| HP:0003202 | 4.56900638946e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Skeletal muscle atrophy |
| HP:0007663 | 4.74116684149e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Reduced visual acuity |
| HP:0000729 | 6.80715800919e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Autistic behavior |
| HP:0001637 | 6.80715800919e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal myocardium morphology |
| HP:0011927 | 7.17776065075e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Short digit |
| HP:5200423 | 7.6997302635e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal experience of reality |
| HP:0005280 | 7.97314048395e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Depressed nasal bridge |
| HP:0000370 | 7.97314048395e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the middle ear |
| HP:0001260 | 8.25513844154e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Dysarthria |
| HP:0012379 | 8.39943097703e-10 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal circulating enzyme concentration or activity |
| HP:0008373 | 1.04900044916e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Puberty and gonadal disorders |
| HP:0000745 | 1.28172088191e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Diminished motivation |
| HP:5200275 | 1.43769421959e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal motivation |
| HP:0025668 | 1.74461084575e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal neck morphology |
| HP:0034684 | 1.80106144269e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal enzyme concentration or activity |
| HP:0000534 | 1.98027191737e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal eyebrow morphology |
| HP:0100851 | 2.01163190708e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal emotion |
| HP:0000036 | 2.14152807816e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal penis morphology |
| HP:0005918 | 2.1751435444e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal finger phalanx morphology |
| HP:0011014 | 2.2092267284e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal glucose homeostasis |
| HP:0012211 | 2.57706120302e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal renal physiology |
| HP:0000539 | 2.82298295199e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of refraction |
| HP:0000464 | 3.18320826178e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the neck |
| HP:0030236 | 3.53128959914e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of muscle size |
| HP:0000481 | 3.85611836227e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal cornea morphology |
| HP:0000288 | 4.78712969675e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the philtrum |
| HP:0200006 | 5.06689439775e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Slanting of the palpebral fissure |
| HP:0002242 | 6.69532930603e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal intestine morphology |
| HP:0000028 | 6.69532930603e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cryptorchidism |
| HP:0000080 | 7.56876649107e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of reproductive system physiology |
| HP:0000218 | 9.00897899996e-09 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | High palate |
| HP:0000518 | 1.17016704872e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cataract |
| HP:0000316 | 1.34685306862e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypertelorism |
| HP:0000517 | 1.47125640045e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal lens morphology |
| CORUM:6166 | 1.68385473419e-08 | 0.3 | TTC8 BBIP1 BBS4 | BBSome linker complex |
| HP:0011362 | 1.95497161183e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal hair quantity |
| HP:0410042 | 2.05217199882e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal liver morphology |
| HP:0010936 | 2.07713242332e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the lower urinary tract |
| HP:0008050 | 2.4852880029e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the palpebral fissures |
| HP:0000369 | 2.79549938436e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Low-set ears |
| GO:0060271 | 3.00374965265e-08 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cilium assembly |
| HP:0001257 | 4.03207722689e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Spasticity |
| HP:0000479 | 4.55753977075e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal retinal morphology |
| HP:0000357 | 4.60819486157e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal location of ears |
| HP:0000035 | 5.19929869152e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal testis morphology |
| GO:0044782 | 5.30195761033e-08 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cilium organization |
| HP:0012718 | 5.48954188595e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal gastrointestinal tract morphology |
| HP:0000177 | 5.7940757009e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal upper lip morphology |
| HP:0000164 | 5.92002661475e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the dentition |
| HP:0100543 | 8.12400695106e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Cognitive impairment |
| HP:0000422 | 9.28630906796e-08 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal nasal bridge morphology |
| HP:0025033 | 1.0175163095e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal digestive system morphology |
| HP:0001251 | 1.09178665906e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Ataxia |
| HP:0005922 | 1.13635252384e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal hand morphology |
| HP:0000639 | 1.19432546848e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Nystagmus |
| HP:0012547 | 1.37086025848e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal involuntary eye movements |
| HP:0011277 | 1.42537672045e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the urinary system physiology |
| HP:0001392 | 1.4675177655e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the liver |
| HP:0000750 | 1.64735372871e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Delayed speech and language development |
| HP:0100886 | 1.81187942417e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of globe location |
| HP:0000505 | 1.89948280547e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Visual impairment |
| HP:0012210 | 1.95383026643e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal renal morphology |
| HP:0000277 | 2.04748047749e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal mandible morphology |
| HP:0000032 | 2.14509218703e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal male external genitalia morphology |
| HP:0000486 | 2.41847934074e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Strabismus |
| HP:0000174 | 2.53158975413e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal palate morphology |
| HP:0002463 | 2.62543182179e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Language impairment |
| HP:0001276 | 2.95210128325e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hypertonia |
| HP:0000811 | 3.11467209262e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal external genitalia |
| HP:0010461 | 3.14252586218e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the male genitalia |
| HP:0011443 | 3.1706003985e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of coordination |
| HP:0030791 | 3.2274178815e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal jaw morphology |
| HP:0000549 | 3.25616390573e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal conjugate eye movement |
| HP:0012649 | 3.46382797592e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Increased inflammatory response |
| HP:0012647 | 3.46382797592e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal inflammatory response |
| HP:0012719 | 3.91472225182e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Functional abnormality of the gastrointestinal tract |
| HP:0002493 | 4.45490827895e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Upper motor neuron dysfunction |
| HP:0001167 | 4.49316455065e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal finger morphology |
| HP:0000159 | 5.27760859578e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal lip morphology |
| GO:0120031 | 6.56019331484e-07 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | plasma membrane bounded cell projection assembly |
| HP:0000377 | 7.76322854763e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal pinna morphology |
| HP:0004328 | 7.88887217473e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal anterior eye segment morphology |
| GO:0030031 | 7.98891371294e-07 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cell projection assembly |
| HP:0002012 | 8.14558297909e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the abdominal organs |
| HP:0032180 | 8.21090702979e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal circulating metabolite concentration |
| HP:0000504 | 8.47687443367e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of vision |
| HP:0000356 | 8.5445485747e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the outer ear |
| HP:0001595 | 9.03183937847e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal hair morphology |
| HP:0034430 | 9.3948373295e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal joint physiology |
| HP:0011729 | 9.3948373295e-07 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of joint mobility |
| HP:0000818 | 1.056271767e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the endocrine system |
| HP:0001098 | 1.1150487818e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal fundus morphology |
| HP:0004329 | 1.15879022387e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal posterior eye segment morphology |
| HP:0011821 | 1.18575945093e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal facial skeleton morphology |
| GO:0005929 | 1.25760691641e-06 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cilium |
| HP:0000492 | 1.27972285734e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal eyelid morphology |
| HP:0011025 | 1.35958754419e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal cardiovascular system physiology |
| HP:0012243 | 1.35958754419e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal reproductive system morphology |
| HP:0004322 | 1.43306274123e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Short stature |
| HP:0000077 | 1.57891206497e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the kidney |
| HP:0007737 | 1.60590133575e-06 | 0.5 | LZTFL1 BBS1 BBS2 BBS9 TTC8 | Bone spicule pigmentation of the retina |
| HP:0002795 | 1.71244919563e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal respiratory system physiology |
| HP:0010935 | 1.91065704297e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the upper urinary tract |
| HP:0005105 | 1.98110529534e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal nasal morphology |
| HP:0011138 | 2.35234914586e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal skin adnexa morphology |
| HP:0011297 | 2.882315372e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal digit morphology |
| HP:0001760 | 2.90234007407e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal foot morphology |
| HP:0000002 | 2.90234007407e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of body height |
| HP:0000365 | 2.98367802682e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hearing impairment |
| HP:0001627 | 3.19593220115e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal heart morphology |
| HP:0000364 | 3.46823059875e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Hearing abnormality |
| HP:0000925 | 3.49182408332e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the vertebral column |
| HP:0000546 | 3.77420255151e-06 | 0.6 | BBS9 BBS1 BBS4 TTC8 BBS2 LZTFL1 | Retinal degeneration |
| HP:0030669 | 4.35480054186e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal ocular adnexa morphology |
| HP:0001155 | 4.5008398673e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the hand |
| HP:0032039 | 4.8060053913e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the ocular adnexa |
| HP:0031704 | 5.06319936587e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal ear physiology |
| HP:0011843 | 5.50722536461e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal musculoskeletal physiology |
| HP:0000315 | 5.57851537881e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the orbital region |
| HP:0031703 | 5.72355406292e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal ear morphology |
| GO:0061512 | 5.81869457159e-06 | 0.5 | LZTFL1 BBS1 BBIP1 BBS9 BBS4 | protein localization to cilium |
| HP:0000078 | 6.6242820864e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the genital system |
| HP:0012337 | 8.08595957291e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal homeostasis |
| HP:0010978 | 8.18613688859e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of immune system physiology |
| HP:0002167 | 8.38979737043e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of speech or vocalization |
| HP:0000366 | 8.44140887444e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the nose |
| HP:0002817 | 9.36293359493e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the upper limb |
| HP:0011024 | 9.53449828016e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the gastrointestinal tract |
| HP:0002813 | 9.70884333174e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal limb bone morphology |
| HP:0040068 | 9.70884333174e-06 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of limb bone |
| HP:0034434 | 1.08801625926e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal communication |
| HP:0000496 | 1.17521189807e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of eye movement |
| GO:0032402 | 1.30949840786e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | melanosome transport |
| GO:0051904 | 1.30949840786e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | pigment granule transport |
| HP:0000708 | 1.38435040277e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Atypical behavior |
| GO:0098590 | 1.41067665315e-05 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | plasma membrane region |
| HP:0002814 | 1.48364099209e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the lower limb |
| GO:0051905 | 1.68308738937e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | establishment of pigment granule localization |
| GO:0032401 | 1.68308738937e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | establishment of melanosome localization |
| HP:0004323 | 1.73045220092e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of body weight |
| HP:0011844 | 1.74025327402e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal appendicular skeleton morphology |
| HP:0001510 | 1.77995125903e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Growth delay |
| HP:0011805 | 2.06956039867e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal skeletal muscle morphology |
| HP:0030680 | 2.41326367708e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal cardiovascular system morphology |
| GO:0051875 | 2.66313661765e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | pigment granule localization |
| GO:0032400 | 2.66313661765e-05 | 0.4 | BBS4 BBS5 BBS7 BBS2 | melanosome localization |
| HP:0001250 | 3.27288114118e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Seizure |
| HP:0011442 | 3.32482534927e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal central motor function |
| HP:0000079 | 3.44887860637e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the urinary system |
| HP:0002715 | 3.48506720101e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the immune system |
| HP:0000580 | 3.60248887591e-05 | 0.5 | LZTFL1 BBS1 BBS2 BBS9 TTC8 | Pigmentary retinopathy |
| HP:0001249 | 4.23966205214e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Intellectual disability |
| HP:0002086 | 5.21292460731e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the respiratory system |
| HP:0001830 | 6.32973781235e-05 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Postaxial foot polydactyly |
| GO:0070925 | 7.9364718453e-05 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | organelle assembly |
| HP:0003808 | 8.07145964638e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal muscle tone |
| HP:0000163 | 8.58239368645e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal oral cavity morphology |
| HP:0031816 | 8.58239368645e-05 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal oral morphology |
| HP:0025032 | 0.000116974766304 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of digestive system physiology |
| HP:0000153 | 0.00012074548523 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the mouth |
| HP:0000598 | 0.000147662206975 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the ear |
| HP:0000929 | 0.000167702841205 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal skull morphology |
| HP:0010322 | 0.00017574906078 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Abnormal fifth toe morphology |
| HP:0001162 | 0.00017574906078 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Postaxial hand polydactyly |
| HP:0040064 | 0.000180537990991 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of limbs |
| HP:0012372 | 0.000212418989571 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal eye morphology |
| HP:0012758 | 0.000217883707775 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Neurodevelopmental delay |
| HP:0012373 | 0.000225363358549 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal eye physiology |
| HP:0001574 | 0.000246089489056 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the integument |
| HP:0001939 | 0.000270708681048 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of metabolism/homeostasis |
| HP:0011804 | 0.000297482306418 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal muscle physiology |
| GO:0061629 | 0.000324436515582 | 0.6 | BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | RNA polymerase II-specific DNA-binding transcription factor binding |
| HP:0000119 | 0.000348265920594 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the genitourinary system |
| GO:0036064 | 0.000418447412602 | 0.5 | TTC8 BBS5 BBS2 BBS7 BBS4 | ciliary basal body |
| HP:0001507 | 0.000421194331166 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Growth abnormality |
| HP:0009121 | 0.000424506121992 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal axial skeleton morphology |
| HP:0001626 | 0.000441413018134 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the cardiovascular system |
| HP:0007843 | 0.000445805149957 | 0.4 | TTC8 BBS2 BBS9 BBS1 | Attenuation of retinal blood vessels |
| HP:0007703 | 0.000501760224145 | 0.5 | LZTFL1 BBS1 BBS2 BBS9 TTC8 | Abnormality of retinal pigmentation |
| GO:0120036 | 0.000695907838635 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | plasma membrane bounded cell projection organization |
| GO:0030030 | 0.00077362656503 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cell projection organization |
| HP:0001829 | 0.000773899660262 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Foot polydactyly |
| HP:0000007 | 0.00080885369931 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Autosomal recessive inheritance |
| HP:0003011 | 0.000863299440461 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the musculature |
| HP:0025031 | 0.000878986905785 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the digestive system |
| HP:0009136 | 0.000885645801836 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Duplication involving bones of the feet |
| HP:0000271 | 0.000947661071176 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the face |
| HP:0012759 | 0.000978515861466 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Neurodevelopmental abnormality |
| HP:0000478 | 0.0012987449188 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the eye |
| HP:0011842 | 0.00156063423889 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal skeletal morphology |
| GO:0005815 | 0.00163373251421 | 0.7 | BBS9 BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | microtubule organizing center |
| HP:0011446 | 0.00170827873666 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of mental function |
| GO:0033059 | 0.00185320096161 | 0.4 | BBS4 BBS5 BBS7 BBS2 | cellular pigmentation |
| HP:0000924 | 0.00205440627307 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the skeletal system |
| GO:0140297 | 0.00224750958422 | 0.6 | BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | DNA-binding transcription factor binding |
| HP:0000234 | 0.00229354190086 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the head |
| HP:0000152 | 0.0024847369658 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of head or neck |
| HP:0001161 | 0.00250942376576 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Hand polydactyly |
| HPA:0320872 | 0.00320224816815 | 0.4 | LZTFL1 BBS7 BBIP1 BBS2 | nasopharynx; ciliated cells (ciliary rootlets)[>=Medium] |
| GO:0120025 | 0.00423186214184 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | plasma membrane bounded cell projection |
| GO:0042995 | 0.00457274180508 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | cell projection |
| GO:0043473 | 0.00587927004575 | 0.4 | BBS4 BBS5 BBS7 BBS2 | pigmentation |
| HPA:0320871 | 0.00606993800765 | 0.4 | LZTFL1 BBS7 BBIP1 BBS2 | nasopharynx; ciliated cells (ciliary rootlets)[>=Low] |
| HPA:0060872 | 0.0061416894372 | 0.4 | LZTFL1 BBS7 BBIP1 BBS2 | bronchus; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0012638 | 0.00699111985241 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormal nervous system physiology |
| HP:0009997 | 0.0071057976352 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Duplication of phalanx of hand |
| HP:0009142 | 0.00724480497691 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Duplication of bones involving the upper extremities |
| HP:0004275 | 0.00724480497691 | 0.4 | LZTFL1 BBS2 BBS9 BBS1 | Duplication of hand bones |
| HP:0033127 | 0.00725190915138 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the musculoskeletal system |
| GO:0008134 | 0.0078972174121 | 0.6 | BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | transcription factor binding |
| HP:0008046 | 0.0090747197191 | 0.4 | TTC8 BBS2 BBS9 BBS1 | Abnormal retinal vascular morphology |
| HP:0000707 | 0.0109731456056 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Abnormality of the nervous system |
| HP:0007675 | 0.0131577839814 | 0.3 | TTC8 BBS2 BBS1 | Progressive night blindness |
| HP:0030786 | 0.0154872682736 | 0.3 | TTC8 BBS2 BBS1 | Photopsia |
| HP:0007994 | 0.0161093274579 | 0.3 | TTC8 BBS2 BBS1 | Peripheral visual field loss |
| HPA:0060871 | 0.0164504577247 | 0.4 | LZTFL1 BBS7 BBIP1 BBS2 | bronchus; ciliated cells (ciliary rootlets)[>=Low] |
| GO:0098588 | 0.0169064458222 | 0.8 | BBS9 BBS4 BBS2 BBS5 BBS7 BBS1 TTC8 BBIP1 | bounding membrane of organelle |
| HPA:0060881 | 0.0175135932183 | 0.4 | LZTFL1 BBS7 BBIP1 BBS2 | bronchus; ciliated cells (tip of cilia)[>=Low] |
| HP:0007787 | 0.0194678741188 | 0.3 | TTC8 BBS2 BBS1 | Posterior subcapsular cataract |
| HP:0000563 | 0.0240708430057 | 0.3 | TTC8 BBS2 BBS1 | Keratoconus |
| HP:0000523 | 0.025750944258 | 0.3 | TTC8 BBS2 BBS1 | Subcapsular cataract |
| HP:0001780 | 0.0260585118267 | 0.5 | LZTFL1 BBS2 BBS7 BBS9 BBS1 | Abnormal toe morphology |
| HP:0100692 | 0.0266192242471 | 0.3 | TTC8 BBS2 BBS1 | Increased corneal curvature |
| HP:0100689 | 0.0275065882652 | 0.3 | TTC8 BBS2 BBS1 | Decreased corneal thickness |
| WP:000000 | 0.029871335992 | 1.0 | BBS9 BBS7 BBS1 BBS5 RBFOX3 BBS4 BBS2 TTC8 LZTFL1 BBIP1 | WIKIPATHWAYS |
| GO:0045444 | 0.0319473224786 | 0.4 | BBS4 BBS7 BBS9 BBS2 | fat cell differentiation |
| HP:0011486 | 0.0322365869344 | 0.3 | TTC8 BBS2 BBS1 | Abnormality of corneal thickness |
| GO:0045494 | 0.033448305627 | 0.3 | BBS4 BBS2 BBS1 | photoreceptor cell maintenance |
| HP:0034345 | 0.0355240349407 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Mendelian inheritance |
| GO:0001947 | 0.0374486324673 | 0.3 | BBS4 BBS5 BBS7 | heart looping |
| GO:0015630 | 0.0377971464662 | 0.7 | BBS9 BBS4 BBS1 BBS5 BBS7 BBS2 TTC8 | microtubule cytoskeleton |
| HP:0000005 | 0.0395106588228 | 0.9 | BBS9 BBS7 BBS2 BBS5 BBS4 TTC8 BBS1 LZTFL1 BBIP1 | Mode of inheritance |
| HP:0008047 | 0.0433990251061 | 0.4 | TTC8 BBS2 BBS9 BBS1 | Abnormality of the vasculature of the eye |
| GO:0061371 | 0.0463773280544 | 0.3 | BBS4 BBS5 BBS7 | determination of heart left/right asymmetry |
| HP:0001133 | 0.0482539605636 | 0.3 | TTC8 BBS2 BBS1 | Constriction of peripheral visual field |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD | Evidence |
|---|---|---|---|---|
| BBS2 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| BBS9 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| BBS1 | BBS9 | 1.0 | 0.106 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS1 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| TTC8 | BBS1 | 1.0 | 0.16 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS4 | BBS1 | 1.0 | 0.17 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS4 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| BBS7 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| TTC8 | BBS5 | 1.0 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| BBS1 | BBS2 | 1.0 | 0.136 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS1 | BBS7 | 1.0 | 0.148 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS2 | BBS7 | 1.0 | 0.152 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| BBS7 | BBS9 | 0.999 | 0.064 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt boldt_WMM |
| BBS4 | BBS7 | 0.999 | 0.106 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt boldt_WMM |
| TTC8 | BBS7 | 0.999 | 0.206 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt boldt_WMM |
| TTC8 | BBS9 | 0.998 | 0.138 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| BBS4 | BBS9 | 0.997 | 0.066 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| BBS4 | BBS2 | 0.997 | 0.178 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| TTC8 | BBS4 | 0.997 | 0.096 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| BBS2 | BBS9 | 0.997 | 0.096 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| TTC8 | BBS2 | 0.996 | 0.066 | bioplex_WMM bioplex3_WMM boldt boldt_WMM WMM_only |
| LZTFL1 | BBS5 | 0.993 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM | |
| LZTFL1 | BBS9 | 0.992 | 0.04 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| LZTFL1 | BBS7 | 0.983 | 0.164 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| LZTFL1 | TTC8 | 0.981 | 0.068 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| LZTFL1 | BBS1 | 0.958 | 0.128 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| LZTFL1 | BBS2 | 0.939 | 0.056 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM |
| LZTFL1 | BBS4 | 0.877 | 0.084 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM |
| TTC8 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS7 | RBFOX3 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS4 | RBFOX3 | 0.846 | boldt WMM_only boldt_WMM | |
| TTC8 | RBFOX3 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS9 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS5 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS2 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS2 | RBFOX3 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS7 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS4 | BBIP1 | 0.846 | boldt WMM_only boldt_WMM | |
| BBS1 | RBFOX3 | 0.811 | boldt WMM_only boldt_WMM | |
| BBS5 | RBFOX3 | 0.811 | boldt WMM_only boldt_WMM | |
| BBS9 | RBFOX3 | 0.811 | boldt WMM_only boldt_WMM | |
| BBS1 | BBIP1 | 0.761 | WMM_only boldt_WMM | |
| LZTFL1 | RBFOX3 | 0.016 | bioplex_WMM bioplex3_WMM boldt WMM_only boldt_WMM | |
| RBFOX3 | BBIP1 | 0.011 | boldt WMM_only boldt_WMM |
Related Complexes
| Genename | Complexes |
|---|---|
| LZTFL1 | huMAP3_01439.1 huMAP3_14150.1 |
| TTC8 | huMAP3_01439.1 huMAP3_14150.1 |
| RBFOX3 | huMAP3_01552.1 huMAP3_02528.1 huMAP3_03310.1 huMAP3_04607.1 huMAP3_09700.1 huMAP3_13667.1 huMAP3_14150.1 huMAP3_15241.1 huMAP3_15321.1 |
| BBIP1 | huMAP3_14150.1 |
| BBS4 | huMAP3_01439.1 huMAP3_14150.1 |
| BBS1 | huMAP3_01439.1 huMAP3_11332.1 huMAP3_14150.1 |
| BBS2 | huMAP3_01439.1 huMAP3_14150.1 |
| BBS7 | huMAP3_01439.1 huMAP3_14150.1 |
| BBS9 | huMAP3_01439.1 huMAP3_14150.1 |
| BBS5 | huMAP3_01439.1 huMAP3_14150.1 |