hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_01439.1
Confidence: Extremely High
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 |
| 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 | 2.06921837105e-22 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | BBSome |
| REAC:R-HSA-5620922 | 8.40247755024e-22 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | BBSome-mediated cargo-targeting to cilium |
| HP:0025691 | 1.80950921019e-20 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Impaired fasting glucose |
| HP:0005769 | 2.61373552583e-20 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Fifth finger distal phalanx clinodactyly |
| HP:0030010 | 3.71425574723e-20 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hydrometrocolpos |
| HP:0008915 | 7.18089444465e-20 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Childhood-onset truncal obesity |
| HP:0008376 | 7.18089444465e-20 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Nasal dysarthria |
| GO:0034464 | 1.13393166733e-19 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | BBSome |
| HP:0004225 | 1.75974488367e-19 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the distal phalanx of the 5th finger |
| HP:0010747 | 2.32286324644e-19 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Medial flaring of the eyebrow |
| HP:0011026 | 5.06265066533e-19 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Aplasia/Hypoplasia of the vagina |
| REAC:R-HSA-5620920 | 1.07743973667e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cargo trafficking to the periciliary membrane |
| HP:0003233 | 2.96515794931e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Decreased HDL cholesterol concentration |
| HP:0000548 | 3.6062731816e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cone/cone-rod dystrophy |
| HP:0031888 | 4.36548858825e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal HDL cholesterol concentration |
| HP:0002608 | 5.26097342686e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Celiac disease |
| HP:0004213 | 6.31316811224e-18 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal 5th finger phalanx morphology |
| HP:0000858 | 1.48284594868e-17 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Irregular menstruation |
| HP:0010981 | 1.48284594868e-17 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypolipoproteinemia |
| WP:WP5234 | 3.33886208748e-17 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Bardet Biedl syndrome |
| HP:0000011 | 4.92679006374e-17 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Neurogenic bladder |
| HP:0003074 | 1.09121173428e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hyperglycemia |
| HP:0008724 | 1.39889766591e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypoplasia of the ovary |
| HP:0010462 | 1.77995939569e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Aplasia/Hypoplasia of the ovary |
| HP:0001956 | 1.77995939569e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Truncal obesity |
| HP:0005562 | 2.00245432015e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Multiple renal cysts |
| HP:0010979 | 2.24891023648e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of lipoprotein cholesterol concentration |
| WP:WP4536 | 2.78653010523e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Genes related to primary cilium development based on CRISPR |
| HP:0012384 | 3.92273746062e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Rhinitis |
| HP:0002230 | 8.87716596127e-16 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Generalized hirsutism |
| HP:0000855 | 1.0753731424e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Insulin resistance |
| HP:0002037 | 1.18158283547e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Inflammation of the large intestine |
| HP:0000147 | 1.29685920967e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Polycystic ovaries |
| HP:0000138 | 2.63279051322e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Ovarian cyst |
| HP:0002155 | 3.97783387738e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypertriglyceridemia |
| HP:0000142 | 4.66472787167e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal vagina morphology |
| HP:0004408 | 5.88950020637e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the sense of smell |
| HP:0000100 | 5.88950020637e-15 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Nephrotic syndrome |
| HP:0000551 | 1.14088614758e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Color vision defect |
| WP:WP4803 | 1.28350504552e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Ciliopathies |
| HP:0000678 | 1.61094510429e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Dental crowding |
| HP:0100259 | 2.10118551116e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Postaxial polydactyly |
| HP:0001395 | 2.10118551116e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hepatic fibrosis |
| HP:0003107 | 2.24244167997e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal circulating cholesterol concentration |
| HP:0004386 | 2.24244167997e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Gastrointestinal inflammation |
| HP:0003077 | 2.39193779197e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hyperlipidemia |
| HP:0000085 | 2.89403598178e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Horseshoe kidney |
| HP:0004362 | 3.27791585136e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal enteric ganglion morphology |
| HP:0002251 | 3.27791585136e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Aganglionic megacolon |
| WP:WP4656 | 3.42681160884e-14 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | Joubert syndrome |
| HP:0012331 | 3.48603749272e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal autonomic nervous system morphology |
| HP:0025028 | 3.48603749272e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal enteric nervous system morphology |
| HP:0002099 | 3.937232306e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Asthma |
| HP:0008734 | 4.43871878218e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Decreased testicular size |
| HP:0031065 | 5.29569191789e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal ovarian morphology |
| HP:0000712 | 9.28753598143e-14 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Emotional lability |
| HP:0010468 | 1.27780189883e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Aplasia/Hypoplasia of the testes |
| HP:0000691 | 1.27780189883e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Microdontia |
| WP:WP4352 | 1.39607802814e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Ciliary landscape |
| REAC:R-HSA-5617833 | 1.43492763244e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cilium Assembly |
| GO:0060170 | 1.45676017843e-13 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | ciliary membrane |
| HP:0001397 | 1.65140907832e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hepatic steatosis |
| HP:0006561 | 1.82570171553e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Lipid accumulation in hepatocytes |
| HP:0012622 | 2.0158820442e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Chronic kidney disease |
| HP:0000512 | 2.11731007158e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal electroretinogram |
| HP:0045058 | 2.56907630651e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the testis size |
| HP:0031137 | 2.69439710195e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Storage in hepatocytes |
| HP:0000662 | 3.40468115755e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Nyctalopia |
| HP:0000789 | 3.90524699553e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Infertility |
| HP:0005978 | 3.90524699553e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Type II diabetes mellitus |
| HP:0034644 | 4.27369100148e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal liver metabolite concentration |
| HP:0100326 | 4.67219881175e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Immunologic hypersensitivity |
| HP:0006101 | 5.10284901645e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Finger syndactyly |
| HP:0000510 | 5.56783861026e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Rod-cone dystrophy |
| HP:0000483 | 6.8960967264e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Astigmatism |
| HP:0001007 | 7.19270303721e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hirsutism |
| HP:0000076 | 8.84950700717e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Vesicoureteral reflux |
| HP:0000137 | 8.84950700717e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the ovary |
| HP:0031466 | 9.99622982171e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Impairment in personality functioning |
| HP:0000668 | 9.99622982171e-13 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypodontia |
| HP:0030453 | 1.12709205883e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal visual electrophysiology |
| HP:0000426 | 1.31905303348e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Prominent nasal bridge |
| HP:0000368 | 1.66059108869e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Low-set, posteriorly rotated ears |
| HP:0100542 | 1.8586763194e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal localization of kidney |
| HP:0025634 | 2.07713591726e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal ureter physiology |
| HP:0000717 | 2.07713591726e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Autism |
| HP:0000613 | 2.40318702853e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Photophobia |
| HP:0002244 | 2.58238659749e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal small intestine morphology |
| HP:0010442 | 2.77317089733e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Polydactyly |
| HP:0000126 | 2.77317089733e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hydronephrosis |
| REAC:R-HSA-1852241 | 3.02258624991e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Organelle biogenesis and maintenance |
| CORUM:6165 | 3.36110250117e-12 | 0.5 | BBS7 BBS1 BBS9 BBS2 | BBSome core complex |
| HP:0000144 | 4.1988546899e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Decreased fertility |
| HP:0032243 | 4.49023184023e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal tissue metabolite concentration |
| HP:0000400 | 4.49023184023e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Macrotia |
| HP:0000107 | 4.79915002876e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Renal cyst |
| HP:0006482 | 4.96046599612e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal dental morphology |
| HP:0010946 | 4.96046599612e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Dilatation of the renal pelvis |
| HP:0000140 | 5.84031623466e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the menstrual cycle |
| HP:0002270 | 6.43132007548e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the autonomic nervous system |
| HP:0010944 | 6.63962194027e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal renal pelvis morphology |
| HP:0003119 | 7.07400580863e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal circulating lipid concentration |
| HP:5200058 | 7.30037399451e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Sensory hypersensitivity |
| HP:0000618 | 9.0703448754e-12 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Blindness |
| HP:5200046 | 1.05543846976e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Sensory behavioral abnormality |
| HP:0011015 | 1.12049891236e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal blood glucose concentration |
| HP:0001328 | 1.45871044432e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Specific learning disability |
| HP:0002250 | 1.54497472753e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal large intestine morphology |
| CORUM:6601 | 1.68018318789e-11 | 0.5 | TTC8 BBS4 BBS5 BBS1 | BBS1-BBS4-BBS5-PKD1-TTC8 complex |
| HP:0100691 | 1.83113615873e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the curvature of the cornea |
| HP:0000388 | 1.93631532009e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Otitis media |
| HP:0000556 | 2.16264268141e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Retinal dystrophy |
| HP:0030012 | 3.31625668139e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal female reproductive system physiology |
| HP:0009804 | 3.31625668139e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Tooth agenesis |
| HP:0002910 | 3.67751155931e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Elevated hepatic transaminase |
| HP:0000278 | 3.87071499936e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Retrognathia |
| HP:0000821 | 4.07274215294e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypothyroidism |
| HP:0001156 | 5.10052203755e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Brachydactyly |
| HP:0000069 | 5.76425227354e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the ureter |
| HP:0002926 | 5.76425227354e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of thyroid physiology |
| HP:0000470 | 6.34845926468e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Short neck |
| HP:0000822 | 6.34845926468e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypertension |
| HP:0006483 | 7.67416429207e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal number of teeth |
| HP:0008736 | 7.67416429207e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypoplasia of penis |
| HP:0001513 | 8.04118895843e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Obesity |
| HP:0001762 | 8.62052232307e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Talipes equinovarus |
| HP:0000083 | 8.82158406822e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Renal insufficiency |
| HP:0004209 | 9.44960318545e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Clinodactyly of the 5th finger |
| HP:0009179 | 9.66746147214e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Deviation of the 5th finger |
| HP:0000692 | 9.88970196576e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Tooth malposition |
| HP:0000135 | 9.88970196576e-11 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypogonadism |
| HP:0001159 | 1.03476320052e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Syndactyly |
| HP:0000716 | 1.05834754697e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Depression |
| HP:0000343 | 1.3505403558e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Long philtrum |
| HP:0003319 | 1.47306832447e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the cervical spine |
| HP:0040019 | 1.71102076995e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Finger clinodactyly |
| HP:0410008 | 1.78490270779e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the peripheral nervous system |
| HP:0000819 | 1.86156115131e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Diabetes mellitus |
| HP:0032263 | 1.90095927091e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Increased blood pressure |
| HP:0001952 | 2.19777491799e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Glucose intolerance |
| HP:0000008 | 2.43389081233e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal morphology of female internal genitalia |
| HP:0000358 | 2.43389081233e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Posteriorly rotated ears |
| HP:5200230 | 2.53437662227e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Maladaptive fear-related cognitions |
| HP:0000739 | 2.53437662227e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Anxiety |
| HP:0004324 | 2.74629342465e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Increased body weight |
| HP:0001883 | 2.85794860838e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Talipes |
| HP:0005656 | 3.09323445716e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Positional foot deformity |
| HP:0000050 | 3.2806544933e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypoplastic male external genitalia |
| HP:5200401 | 3.47793656905e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal judgment |
| HP:0000009 | 3.75708572574e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Functional abnormality of the bladder |
| HP:0000736 | 4.71563923238e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Short attention span |
| HP:0000494 | 4.71563923238e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Downslanted palpebral fissures |
| HP:0004207 | 4.89462775933e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal 5th finger morphology |
| HP:5200044 | 5.2705212759e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Reduced attention regulation |
| HP:0030972 | 5.2705212759e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal systemic blood pressure |
| HP:0003241 | 5.2705212759e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | External genital hypoplasia |
| HP:0000820 | 5.46776386554e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the thyroid gland |
| HP:0000812 | 6.32283132531e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal internal genitalia |
| HP:0004097 | 6.4375312133e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Deviation of finger |
| HP:0000014 | 6.91474332266e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the bladder |
| HP:0009484 | 9.46661741483e-10 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Deviation of the hand or of fingers of the hand |
| HP:0010460 | 1.04834160503e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the female genitalia |
| HP:0030084 | 1.06618571746e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Clinodactyly |
| HP:0001382 | 1.06618571746e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Joint hypermobility |
| HP:0001638 | 1.23912879063e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cardiomyopathy |
| HP:0003202 | 1.25978093714e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Skeletal muscle atrophy |
| HP:0007663 | 1.30199062443e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Reduced visual acuity |
| HP:0001637 | 1.79714732502e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal myocardium morphology |
| HP:0000729 | 1.79714732502e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Autistic behavior |
| HP:0011927 | 1.88409157428e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Short digit |
| HP:5200423 | 2.00573073432e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal experience of reality |
| HP:0005280 | 2.06908661247e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Depressed nasal bridge |
| HP:0000370 | 2.06908661247e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the middle ear |
| HP:0001260 | 2.13418671209e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Dysarthria |
| HP:0012379 | 2.1674036259e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal circulating enzyme concentration or activity |
| HP:0008373 | 2.64227186193e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Puberty and gonadal disorders |
| HP:0000745 | 3.15899651178e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Diminished motivation |
| HP:5200275 | 3.49954937759e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal motivation |
| HP:0025668 | 4.15848389458e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal neck morphology |
| HP:0034684 | 4.27825418206e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal enzyme concentration or activity |
| HP:0000534 | 4.65586953691e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal eyebrow morphology |
| HP:0100851 | 4.72156081786e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal emotion |
| HP:0000036 | 4.99250744129e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal penis morphology |
| HP:0005918 | 5.06233272019e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal finger phalanx morphology |
| HP:0011014 | 5.13301101297e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal glucose homeostasis |
| HP:0012211 | 5.8887101476e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal renal physiology |
| HP:0000539 | 6.38739138892e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of refraction |
| HP:0000464 | 7.10957237582e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the neck |
| GO:0031253 | 7.15452420474e-09 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cell projection membrane |
| HP:0030236 | 7.79908517708e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of muscle size |
| HP:0000481 | 8.43596131254e-09 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal cornea morphology |
| HP:0000288 | 1.02311981187e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the philtrum |
| HP:0200006 | 1.07630129406e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Slanting of the palpebral fissure |
| HP:0002242 | 1.38015230079e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal intestine morphology |
| HP:0000028 | 1.38015230079e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cryptorchidism |
| HP:0000080 | 1.5397489464e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of reproductive system physiology |
| HP:0000218 | 1.79873205276e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | High palate |
| HP:0000518 | 2.27165227715e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cataract |
| HP:0000316 | 2.57550674667e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypertelorism |
| HP:0000517 | 2.78687531493e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal lens morphology |
| HP:0011362 | 3.5921034047e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal hair quantity |
| HP:0410042 | 3.75117654871e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal liver morphology |
| HP:0010936 | 3.79189488302e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the lower urinary tract |
| HP:0008050 | 4.45081104172e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the palpebral fissures |
| HP:0000369 | 4.9438511279e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Low-set ears |
| HP:0001257 | 6.85754544085e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Spasticity |
| HP:0000479 | 7.65075933962e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal retinal morphology |
| HP:0000357 | 7.72669739758e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal location of ears |
| HP:0000035 | 8.6065810354e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal testis morphology |
| HP:0012718 | 9.0346877276e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal gastrointestinal tract morphology |
| HP:0000177 | 9.48131273191e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal upper lip morphology |
| HP:0000164 | 9.66530002465e-08 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the dentition |
| HP:0100543 | 1.28253769399e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Cognitive impairment |
| HP:0000422 | 1.44539692454e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal nasal bridge morphology |
| HP:0025033 | 1.56848556858e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal digestive system morphology |
| HP:0001251 | 1.67046731687e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Ataxia |
| HP:0005922 | 1.73130920397e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal hand morphology |
| HP:0000639 | 1.81008204581e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Nystagmus |
| HP:0012547 | 2.0475736964e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal involuntary eye movements |
| HP:0011277 | 2.12024826173e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the urinary system physiology |
| HP:0001392 | 2.1762256056e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the liver |
| HP:0000750 | 2.41327957083e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Delayed speech and language development |
| HP:0100886 | 2.62778064068e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of globe location |
| HP:0000505 | 2.74115296171e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Visual impairment |
| HP:0012210 | 2.81121108424e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal renal morphology |
| HP:0000277 | 2.93145983125e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal mandible morphology |
| GO:0060271 | 2.97024879509e-07 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cilium assembly |
| HP:0000032 | 3.05618538805e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal male external genitalia morphology |
| HP:0007737 | 3.16752102226e-07 | 0.625 | TTC8 BBS2 LZTFL1 BBS9 BBS1 | Bone spicule pigmentation of the retina |
| HP:0000486 | 3.4024538247e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Strabismus |
| HP:0000174 | 3.54449960029e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal palate morphology |
| HP:0002463 | 3.6618452617e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Language impairment |
| HP:0001276 | 4.06703306422e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hypertonia |
| HP:0000811 | 4.26691107653e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal external genitalia |
| HP:0010461 | 4.30104636514e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the male genitalia |
| HP:0011443 | 4.33542036207e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of coordination |
| HP:0030791 | 4.40489020554e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal jaw morphology |
| HP:0000549 | 4.43998893228e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal conjugate eye movement |
| HP:0000546 | 4.5499863842e-07 | 0.75 | BBS2 BBS9 BBS4 TTC8 BBS1 LZTFL1 | Retinal degeneration |
| HP:0012647 | 4.69260730423e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal inflammatory response |
| HP:0012649 | 4.69260730423e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Increased inflammatory response |
| GO:0044782 | 4.88360639325e-07 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cilium organization |
| HP:0012719 | 5.23583361311e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Functional abnormality of the gastrointestinal tract |
| HP:0002493 | 5.87817930114e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Upper motor neuron dysfunction |
| HP:0001167 | 5.92335262911e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal finger morphology |
| HP:0000159 | 6.84133586525e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal lip morphology |
| HP:0000377 | 9.66611568145e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal pinna morphology |
| HP:0004328 | 9.8061391025e-07 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal anterior eye segment morphology |
| HP:0002012 | 1.00915200072e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the abdominal organs |
| HP:0032180 | 1.01639905279e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal circulating metabolite concentration |
| HP:0000504 | 1.04584468451e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of vision |
| HP:0000356 | 1.05332167957e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the outer ear |
| HP:0001595 | 1.10698320426e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal hair morphology |
| HP:0011729 | 1.14676299255e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of joint mobility |
| HP:0034430 | 1.14676299255e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal joint physiology |
| HP:0000818 | 1.27370756462e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the endocrine system |
| HP:0001098 | 1.33704130693e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal fundus morphology |
| HP:0004329 | 1.38395056749e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal posterior eye segment morphology |
| HP:0011821 | 1.41278196794e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal facial skeleton morphology |
| HP:0000492 | 1.51271844264e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal eyelid morphology |
| HP:0011025 | 1.5970673129e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal cardiovascular system physiology |
| HP:0012243 | 1.5970673129e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal reproductive system morphology |
| HP:0004322 | 1.674219505e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Short stature |
| HP:0000077 | 1.82619056416e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the kidney |
| HP:0002795 | 1.96407290411e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal respiratory system physiology |
| HP:0010935 | 2.16673533422e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the upper urinary tract |
| HP:0005105 | 2.23823871757e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal nasal morphology |
| HP:0011138 | 2.61098054014e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal skin adnexa morphology |
| HP:0011297 | 3.1329685416e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal digit morphology |
| HP:0001760 | 3.15248859482e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal foot morphology |
| HP:0000002 | 3.15248859482e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of body height |
| HP:0000365 | 3.23163712773e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hearing impairment |
| HP:0001627 | 3.43716288981e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal heart morphology |
| HP:0000364 | 3.6988189984e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Hearing abnormality |
| HP:0000925 | 3.72138997627e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the vertebral column |
| GO:0051904 | 4.37121604064e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | pigment granule transport |
| GO:0032402 | 4.37121604064e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | melanosome transport |
| GO:0120031 | 4.42044044106e-06 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | plasma membrane bounded cell projection assembly |
| HP:0030669 | 4.53718225859e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal ocular adnexa morphology |
| HP:0001155 | 4.67352679234e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the hand |
| HP:0032039 | 4.95701082007e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the ocular adnexa |
| HP:0031704 | 5.19451830764e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal ear physiology |
| GO:0030031 | 5.25356067084e-06 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cell projection assembly |
| HP:0011843 | 5.6017349625e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal musculoskeletal physiology |
| GO:0032401 | 5.61890325943e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | establishment of melanosome localization |
| GO:0051905 | 5.61890325943e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | establishment of pigment granule localization |
| HP:0000315 | 5.66679994962e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the orbital region |
| HP:0031703 | 5.79891660195e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal ear morphology |
| HP:0000078 | 6.61219377173e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the genital system |
| HP:0000580 | 7.16622111225e-06 | 0.625 | TTC8 BBS2 LZTFL1 BBS9 BBS1 | Pigmentary retinopathy |
| GO:0005929 | 7.81932863416e-06 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cilium |
| HP:0012337 | 7.9090448351e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal homeostasis |
| HP:0010978 | 7.99701408051e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of immune system physiology |
| HP:0002167 | 8.17552454603e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of speech or vocalization |
| HP:0000366 | 8.22069318993e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the nose |
| GO:0032400 | 8.89269760433e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | melanosome localization |
| GO:0051875 | 8.89269760433e-06 | 0.5 | BBS7 BBS4 BBS5 BBS2 | pigment granule localization |
| HP:0002817 | 9.0226920341e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the upper limb |
| HP:0011024 | 9.17110901233e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the gastrointestinal tract |
| HP:0002813 | 9.32165779932e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal limb bone morphology |
| HP:0040068 | 9.32165779932e-06 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of limb bone |
| HP:0034434 | 1.03263515476e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal communication |
| HP:0000496 | 1.10672109387e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of eye movement |
| HP:0000708 | 1.28226660672e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Atypical behavior |
| HP:0002814 | 1.36466196524e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the lower limb |
| HP:0004323 | 1.56718864073e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of body weight |
| HP:0011844 | 1.57516923215e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal appendicular skeleton morphology |
| HP:0001510 | 1.60744832536e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Growth delay |
| HP:0011805 | 1.84088195052e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal skeletal muscle morphology |
| HP:0001830 | 1.86730872519e-05 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Postaxial foot polydactyly |
| HP:0030680 | 2.11377919901e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal cardiovascular system morphology |
| HP:0001250 | 2.7807148982e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Seizure |
| HP:0011442 | 2.82041517938e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal central motor function |
| HP:0000079 | 2.91498357183e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the urinary system |
| HP:0002715 | 2.9425076099e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the immune system |
| HP:0001249 | 3.51049579752e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Intellectual disability |
| HP:0002086 | 4.22879928204e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the respiratory system |
| GO:0061629 | 4.45972920488e-05 | 0.75 | BBS2 BBS7 TTC8 BBS1 BBS5 BBS4 | RNA polymerase II-specific DNA-binding transcription factor binding |
| HP:0010322 | 5.19495358718e-05 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Abnormal fifth toe morphology |
| HP:0001162 | 5.19495358718e-05 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Postaxial hand polydactyly |
| HP:0003808 | 6.27127209476e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal muscle tone |
| GO:0098590 | 6.51784957724e-05 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | plasma membrane region |
| HP:0031816 | 6.62816578949e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal oral morphology |
| HP:0000163 | 6.62816578949e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal oral cavity morphology |
| CORUM:6166 | 7.17483486175e-05 | 0.25 | TTC8 BBS4 | BBSome linker complex |
| HP:0025032 | 8.76414556762e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of digestive system physiology |
| HP:0000153 | 9.01868880323e-05 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the mouth |
| GO:0036064 | 9.42197559575e-05 | 0.625 | TTC8 BBS7 BBS4 BBS5 BBS2 | ciliary basal body |
| HP:0007703 | 0.000101108509076 | 0.625 | TTC8 BBS2 LZTFL1 BBS9 BBS1 | Abnormality of retinal pigmentation |
| HP:0000598 | 0.000108150828103 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the ear |
| GO:0005815 | 0.000117690785668 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | microtubule organizing center |
| HP:0000929 | 0.000121320681901 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal skull morphology |
| HP:0040064 | 0.000129676014449 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of limbs |
| HP:0007843 | 0.000132079586227 | 0.5 | TTC8 BBS1 BBS9 BBS2 | Attenuation of retinal blood vessels |
| HP:0012372 | 0.000150195658807 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal eye morphology |
| HP:0012758 | 0.000153682519887 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Neurodevelopmental delay |
| HP:0012373 | 0.000158441741358 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal eye physiology |
| HP:0001574 | 0.000171553559834 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the integument |
| HP:0001939 | 0.000186994484664 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of metabolism/homeostasis |
| HP:0011804 | 0.000203638051242 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal muscle physiology |
| HP:0001829 | 0.000229663192123 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Foot polydactyly |
| HP:0000119 | 0.000234834009482 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the genitourinary system |
| HP:0009136 | 0.000262940713181 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Duplication involving bones of the feet |
| HP:0001507 | 0.000278910295609 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Growth abnormality |
| HP:0009121 | 0.000280894092403 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal axial skeleton morphology |
| HP:0001626 | 0.000290999424999 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the cardiovascular system |
| GO:0070925 | 0.000297188578613 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | organelle assembly |
| GO:0140297 | 0.000312689194718 | 0.75 | BBS2 BBS7 TTC8 BBS1 BBS5 BBS4 | DNA-binding transcription factor binding |
| GO:0061512 | 0.000493423074079 | 0.5 | BBS1 LZTFL1 BBS9 BBS4 | protein localization to cilium |
| HP:0000007 | 0.000503636638192 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Autosomal recessive inheritance |
| HP:0003011 | 0.000534273600748 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the musculature |
| HP:0025031 | 0.000543068041796 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the digestive system |
| HP:0000271 | 0.00058140325817 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the face |
| HP:0012759 | 0.000598544179293 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Neurodevelopmental abnormality |
| GO:0033059 | 0.00062119716087 | 0.5 | BBS7 BBS4 BBS5 BBS2 | cellular pigmentation |
| HP:0001161 | 0.000747983786467 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Hand polydactyly |
| HP:0000478 | 0.000773835805388 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the eye |
| HP:0011842 | 0.000914272855598 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal skeletal morphology |
| HP:0011446 | 0.000992500881145 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of mental function |
| GO:0008134 | 0.00111010249985 | 0.75 | BBS2 BBS7 TTC8 BBS1 BBS5 BBS4 | transcription factor binding |
| HP:0000924 | 0.00117364252382 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the skeletal system |
| HP:0000234 | 0.00129719670329 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the head |
| HP:0000152 | 0.00139516516406 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of head or neck |
| GO:0043473 | 0.00197464201845 | 0.5 | BBS7 BBS4 BBS5 BBS2 | pigmentation |
| GO:0120036 | 0.0020068383731 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | plasma membrane bounded cell projection organization |
| HP:0009997 | 0.00212902247278 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Duplication of phalanx of hand |
| HP:0009142 | 0.00217091092549 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Duplication of bones involving the upper extremities |
| HP:0004275 | 0.00217091092549 | 0.5 | BBS2 LZTFL1 BBS9 BBS1 | Duplication of hand bones |
| GO:0030030 | 0.00220293998406 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cell projection organization |
| HP:0008046 | 0.00272284792648 | 0.5 | TTC8 BBS1 BBS9 BBS2 | Abnormal retinal vascular morphology |
| GO:0015630 | 0.00285315545087 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | microtubule cytoskeleton |
| HP:0012638 | 0.00358027183008 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormal nervous system physiology |
| HP:0033127 | 0.00370198276981 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the musculoskeletal system |
| HP:0000707 | 0.00540468883112 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Abnormality of the nervous system |
| HP:0007675 | 0.00543763778541 | 0.375 | TTC8 BBS1 BBS2 | Progressive night blindness |
| HP:0001780 | 0.00546169538428 | 0.625 | BBS7 BBS2 LZTFL1 BBS9 BBS1 | Abnormal toe morphology |
| HP:0030786 | 0.00640296160267 | 0.375 | TTC8 BBS1 BBS2 | Photopsia |
| HP:0007994 | 0.0066608265632 | 0.375 | TTC8 BBS1 BBS2 | Peripheral visual field loss |
| HP:0007787 | 0.00805364445667 | 0.375 | TTC8 BBS1 BBS2 | Posterior subcapsular cataract |
| GO:0120025 | 0.00985228636845 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | plasma membrane bounded cell projection |
| HP:0000563 | 0.00996398562078 | 0.375 | TTC8 BBS1 BBS2 | Keratoconus |
| GO:0042995 | 0.0105493589807 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cell projection |
| HP:0000523 | 0.0106616456577 | 0.375 | TTC8 BBS1 BBS2 | Subcapsular cataract |
| GO:0045444 | 0.0107748822129 | 0.5 | BBS7 BBS4 BBS9 BBS2 | fat cell differentiation |
| HP:0100692 | 0.0110222721137 | 0.375 | TTC8 BBS1 BBS2 | Increased corneal curvature |
| HP:0100689 | 0.0113908755966 | 0.375 | TTC8 BBS1 BBS2 | Decreased corneal thickness |
| HP:0008047 | 0.0131752265633 | 0.5 | TTC8 BBS1 BBS9 BBS2 | Abnormality of the vasculature of the eye |
| HP:0011486 | 0.013356500578 | 0.375 | TTC8 BBS1 BBS2 | Abnormality of corneal thickness |
| GO:0045494 | 0.0156477314671 | 0.375 | BBS2 BBS4 BBS1 | photoreceptor cell maintenance |
| HP:0034345 | 0.0158668706963 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Mendelian inheritance |
| HP:0000005 | 0.0174972179685 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Mode of inheritance |
| GO:0001947 | 0.0175209574744 | 0.375 | BBS4 BBS5 BBS7 | heart looping |
| HP:0001133 | 0.0200217380769 | 0.375 | TTC8 BBS1 BBS2 | Constriction of peripheral visual field |
| GO:0061371 | 0.0217028525661 | 0.375 | BBS4 BBS5 BBS7 | determination of heart left/right asymmetry |
| HP:0000842 | 0.0228486544917 | 0.375 | TTC8 BBS1 BBS2 | Hyperinsulinemia |
| GO:0003143 | 0.0240219853832 | 0.375 | BBS4 BBS5 BBS7 | embryonic heart tube morphogenesis |
| HP:0040214 | 0.0265738611142 | 0.375 | TTC8 BBS1 BBS2 | Abnormal circulating insulin concentration |
| HP:0000118 | 0.0283849186999 | 1.0 | BBS2 BBS9 BBS7 BBS4 TTC8 BBS1 BBS5 LZTFL1 | Phenotypic abnormality |
| GO:1905515 | 0.0291427400779 | 0.375 | TTC8 BBS4 BBS1 | non-motile cilium assembly |
| GO:0001895 | 0.0319547930493 | 0.375 | BBS2 BBS4 BBS1 | retina homeostasis |
| HP:0003577 | 0.0320702131235 | 0.625 | TTC8 BBS1 LZTFL1 BBS9 BBS4 | Congenital onset |
| GO:0098588 | 0.0334817137278 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | bounding membrane of organelle |
| GO:0035050 | 0.0349415747767 | 0.375 | BBS4 BBS5 BBS7 | embryonic heart tube development |
| GO:0050893 | 0.0393180950424 | 0.25 | TTC8 BBS4 | sensory processing |
| HPA:0320872 | 0.0422889355192 | 0.375 | BBS7 LZTFL1 BBS2 | nasopharynx; ciliated cells (ciliary rootlets)[>=Medium] |
| GO:0005856 | 0.0483717117681 | 0.875 | BBS2 BBS9 BBS7 TTC8 BBS1 BBS5 BBS4 | cytoskeleton |
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 |
Related Complexes
| Genename | Complexes |
|---|---|
| LZTFL1 | huMAP3_01439.1 huMAP3_14150.1 |
| TTC8 | huMAP3_01439.1 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 |