TBC1D3P5

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm motility (GO:0030317)7.42048741
2fusion of sperm to egg plasma membrane (GO:0007342)6.39440360
3acrosome reaction (GO:0007340)6.33117468
4multicellular organism reproduction (GO:0032504)5.60014540
5sperm capacitation (GO:0048240)5.34944646
6cilium or flagellum-dependent cell motility (GO:0001539)5.20429695
7establishment of protein localization to Golgi (GO:0072600)5.03507952
8protein targeting to Golgi (GO:0000042)4.72602892
9reproduction (GO:0000003)4.69103363
10spermatid development (GO:0007286)4.65750710
11glomerular visceral epithelial cell development (GO:0072015)4.62879786
12response to pheromone (GO:0019236)4.58183672
13plasma membrane fusion (GO:0045026)4.58002897
14single strand break repair (GO:0000012)4.56760167
15microtubule severing (GO:0051013)4.43302090
16retrograde transport, vesicle recycling within Golgi (GO:0000301)4.33511288
17glomerular epithelial cell development (GO:0072310)4.17673684
18sperm-egg recognition (GO:0035036)4.15702234
19regulation of Rab GTPase activity (GO:0032313)4.13802181
20positive regulation of Rab GTPase activity (GO:0032851)4.13802181
21regulation of posttranscriptional gene silencing (GO:0060147)4.11955788
22regulation of gene silencing by miRNA (GO:0060964)4.11955788
23regulation of gene silencing by RNA (GO:0060966)4.11955788
24chromosome condensation (GO:0030261)4.10848456
25regulation of hippo signaling (GO:0035330)4.03327318
26negative regulation of inclusion body assembly (GO:0090084)3.86884782
27DNA packaging (GO:0006323)3.86809203
28microtubule depolymerization (GO:0007019)3.86495182
29phosphatidylethanolamine biosynthetic process (GO:0006646)3.83047119
30axonemal dynein complex assembly (GO:0070286)3.64510071
31spermatogenesis (GO:0007283)3.60797914
32male gamete generation (GO:0048232)3.59912480
33microtubule polymerization or depolymerization (GO:0031109)3.56647665
34NAD biosynthetic process (GO:0009435)3.50486373
35phosphatidylethanolamine metabolic process (GO:0046337)3.46569282
36cell-cell recognition (GO:0009988)3.45538659
37single fertilization (GO:0007338)3.42691514
38indolalkylamine metabolic process (GO:0006586)3.42017342
39negative regulation of mast cell activation (GO:0033004)3.38618071
40regulation of chromatin binding (GO:0035561)3.37608902
41detection of light stimulus involved in visual perception (GO:0050908)3.36587007
42detection of light stimulus involved in sensory perception (GO:0050962)3.36587007
43calcium ion-dependent exocytosis (GO:0017156)3.33311044
44cellular ketone body metabolic process (GO:0046950)3.30473910
45multicellular organismal movement (GO:0050879)3.29206419
46musculoskeletal movement (GO:0050881)3.29206419
47positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.28367975
48gamete generation (GO:0007276)3.26237285
49positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)3.24932067
50antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.24617885
51protein polyglutamylation (GO:0018095)3.23336938
52one-carbon compound transport (GO:0019755)3.19737409
53histone H3-K9 methylation (GO:0051567)3.12817802
54positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.07386595
55sexual reproduction (GO:0019953)3.00369407
56regulation of activation of Janus kinase activity (GO:0010533)2.98132837
57protein localization to Golgi apparatus (GO:0034067)2.97149447
58motile cilium assembly (GO:0044458)2.94138708
59nephron tubule morphogenesis (GO:0072078)2.93534186
60nephron epithelium morphogenesis (GO:0072088)2.93534186
61cellular response to pH (GO:0071467)2.91754649
62spermatid nucleus differentiation (GO:0007289)2.88890867
63cell wall macromolecule metabolic process (GO:0044036)2.88687272
64fertilization (GO:0009566)2.88265220
65behavioral response to ethanol (GO:0048149)2.87317910
66indole-containing compound catabolic process (GO:0042436)2.86783721
67indolalkylamine catabolic process (GO:0046218)2.86783721
68tryptophan catabolic process (GO:0006569)2.86783721
69seminiferous tubule development (GO:0072520)2.86280923
70positive regulation of natural killer cell differentiation (GO:0032825)2.83408859
71ketone body metabolic process (GO:1902224)2.80798544
72cilium movement (GO:0003341)2.80097955
73regulation of B cell receptor signaling pathway (GO:0050855)2.80035158
74peristalsis (GO:0030432)2.79422710
75histone H3-K9 modification (GO:0061647)2.79323330
76opioid receptor signaling pathway (GO:0038003)2.78843066
77protein K48-linked deubiquitination (GO:0071108)2.77463699
78urinary tract smooth muscle contraction (GO:0014848)2.76061340
79negative regulation of Rho protein signal transduction (GO:0035024)2.75836060
80positive regulation of DNA-templated transcription, initiation (GO:2000144)2.74575327
81binding of sperm to zona pellucida (GO:0007339)2.71667088
82adult feeding behavior (GO:0008343)2.71216798
83membrane depolarization during action potential (GO:0086010)2.69296966
84positive regulation of histone acetylation (GO:0035066)2.66889598
85termination of G-protein coupled receptor signaling pathway (GO:0038032)2.66358174
86cell wall macromolecule catabolic process (GO:0016998)2.65093406
87cAMP catabolic process (GO:0006198)2.64840409
88pyridine nucleotide biosynthetic process (GO:0019363)2.63792476
89nicotinamide nucleotide biosynthetic process (GO:0019359)2.63792476
90regulation of sarcomere organization (GO:0060297)2.63467124
91chemosensory behavior (GO:0007635)2.61974923
92kynurenine metabolic process (GO:0070189)2.61718230
93detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.58380833
94detection of mechanical stimulus (GO:0050982)2.56434477
95multicellular organismal reproductive process (GO:0048609)2.55557194
96neuronal action potential (GO:0019228)2.50578715
97indole-containing compound metabolic process (GO:0042430)2.48020895
98piRNA metabolic process (GO:0034587)2.46116572
99regulation of inclusion body assembly (GO:0090083)2.44399410
100chromatin silencing (GO:0006342)2.40834126

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.30419045
2DROSHA_22980978_ChIP-Seq_HELA_Human2.74019277
3AR_21572438_ChIP-Seq_LNCaP_Human2.50910315
4CTBP2_25329375_ChIP-Seq_LNCAP_Human2.20916250
5MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10168854
6CTBP1_25329375_ChIP-Seq_LNCAP_Human2.02792587
7GBX2_23144817_ChIP-Seq_PC3_Human1.97561195
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.81094903
9POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.71052921
10TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71052921
11VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.65738392
12SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.64891966
13STAT6_21828071_ChIP-Seq_BEAS2B_Human1.60928840
14CBP_20019798_ChIP-Seq_JUKART_Human1.60557531
15IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.60557531
16ARNT_22903824_ChIP-Seq_MCF-7_Human1.59718453
17ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.55507388
18ER_23166858_ChIP-Seq_MCF-7_Human1.54393237
19UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49593586
20EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46066865
21TAF15_26573619_Chip-Seq_HEK293_Human1.45700917
22VDR_22108803_ChIP-Seq_LS180_Human1.42280504
23EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.41163420
24AHR_22903824_ChIP-Seq_MCF-7_Human1.40924596
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.40488746
26STAT3_23295773_ChIP-Seq_U87_Human1.36077758
27RAC3_21632823_ChIP-Seq_H3396_Human1.35023999
28JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31678556
29EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.30329675
30PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.29410076
31VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.28762542
32ZNF274_21170338_ChIP-Seq_K562_Hela1.27775307
33IGF1R_20145208_ChIP-Seq_DFB_Human1.23629223
34SMAD4_21741376_ChIP-Seq_EPCs_Human1.22490494
35P300_19829295_ChIP-Seq_ESCs_Human1.20603429
36AR_25329375_ChIP-Seq_VCAP_Human1.19327688
37ERA_21632823_ChIP-Seq_H3396_Human1.19123319
38ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18970659
39IRF8_22096565_ChIP-ChIP_GC-B_Human1.17759519
40WDR5_24793694_ChIP-Seq_LNCAP_Human1.16303556
41PRDM14_20953172_ChIP-Seq_ESCs_Human1.16056733
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15588935
43SUZ12_27294783_Chip-Seq_ESCs_Mouse1.15535841
44TP53_18474530_ChIP-ChIP_U2OS_Human1.15344305
45RUNX_20019798_ChIP-Seq_JUKART_Human1.15261747
46OCT1_27270436_Chip-Seq_PROSTATE_Human1.14612359
47RXR_22108803_ChIP-Seq_LS180_Human1.14307327
48NANOG_20526341_ChIP-Seq_ESCs_Human1.12949088
49VDR_24787735_ChIP-Seq_THP-1_Human1.11001679
50GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09899359
51OCT4_20526341_ChIP-Seq_ESCs_Human1.09854063
52CJUN_26792858_Chip-Seq_BT549_Human1.09480368
53EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.08964046
54TP63_22573176_ChIP-Seq_HFKS_Human1.08830394
55EZH2_27294783_Chip-Seq_ESCs_Mouse1.07755398
56RUNX2_22187159_ChIP-Seq_PCA_Human1.07314477
57TCF4_23295773_ChIP-Seq_U87_Human1.06512496
58SPI1_23127762_ChIP-Seq_K562_Human1.05660808
59CEBPB_22108803_ChIP-Seq_LS180_Human1.04480809
60JARID2_20075857_ChIP-Seq_MESCs_Mouse1.04102316
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.03220354
62AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03220036
63SMAD4_21741376_ChIP-Seq_HESCs_Human1.02844273
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02520590
65STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.02296519
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02153632
67FUS_26573619_Chip-Seq_HEK293_Human1.01460135
68SMAD3_21741376_ChIP-Seq_ESCs_Human1.01426487
69ETV2_25802403_ChIP-Seq_MESCs_Mouse1.01303800
70SMC4_20622854_ChIP-Seq_HELA_Human1.01275359
71REST_21632747_ChIP-Seq_MESCs_Mouse0.99171160
72MYC_19829295_ChIP-Seq_ESCs_Human0.98425927
73SMAD4_21799915_ChIP-Seq_A2780_Human0.97441752
74P53_21459846_ChIP-Seq_SAOS-2_Human0.96486701
75JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95879108
76KLF5_20875108_ChIP-Seq_MESCs_Mouse0.95782234
77TP63_23658742_ChIP-Seq_EP156T_Human0.95757569
78AR_19668381_ChIP-Seq_PC3_Human0.95435555
79TAF2_19829295_ChIP-Seq_ESCs_Human0.95381700
80TDRD3_21172665_ChIP-Seq_MCF-7_Human0.95328833
81OCT4_19829295_ChIP-Seq_ESCs_Human0.94987913
82KLF5_25053715_ChIP-Seq_YYC3_Human0.94607034
83P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.94114978
84CTCF_20526341_ChIP-Seq_ESCs_Human0.93833414
85PIAS1_25552417_ChIP-Seq_VCAP_Human0.93652017
86FOXH1_21741376_ChIP-Seq_ESCs_Human0.93426608
87TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.93287564
88KDM2B_26808549_Chip-Seq_REH_Human0.92657695
89CDX2_19796622_ChIP-Seq_MESCs_Mouse0.92474000
90ESR1_20079471_ChIP-ChIP_T-47D_Human0.92371639
91GATA1_19941826_ChIP-Seq_K562_Human0.91884162
92BCOR_27268052_Chip-Seq_Bcells_Human0.91671887
93NANOG_19829295_ChIP-Seq_ESCs_Human0.91541230
94SOX2_19829295_ChIP-Seq_ESCs_Human0.91541230
95SMRT_27268052_Chip-Seq_Bcells_Human0.91256978
96CTCF_27219007_Chip-Seq_Bcells_Human0.91256453
97NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.91190892
98SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.91021121
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90408984
100SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.90402960

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.98140779
2MP0005377_hearing/vestibular/ear_phenot4.17440246
3MP0003878_abnormal_ear_physiology4.17440246
4MP0008057_abnormal_DNA_replication3.98030594
5MP0009278_abnormal_bone_marrow3.92557672
6MP0003950_abnormal_plasma_membrane2.86546253
7MP0005670_abnormal_white_adipose2.84157486
8MP0003646_muscle_fatigue2.79537563
9MP0003698_abnormal_male_reproductive2.47215450
10MP0001348_abnormal_lacrimal_gland2.45727448
11MP0003195_calcinosis2.37173141
12MP0002138_abnormal_hepatobiliary_system2.22369622
13MP0000685_abnormal_immune_system2.12416051
14MP0003329_amyloid_beta_deposits1.99272882
15MP0003879_abnormal_hair_cell1.96422267
16MP0001501_abnormal_sleep_pattern1.93661653
17MP0003191_abnormal_cellular_cholesterol1.92857751
18MP0001929_abnormal_gametogenesis1.92105135
19MP0005397_hematopoietic_system_phenotyp1.91967103
20MP0001545_abnormal_hematopoietic_system1.91967103
21MP0002653_abnormal_ependyma_morphology1.91370011
22MP0009840_abnormal_foam_cell1.89010528
23MP0005551_abnormal_eye_electrophysiolog1.74106082
24MP0003172_abnormal_lysosome_physiology1.67534802
25MP0003638_abnormal_response/metabolism_1.61522626
26MP0001486_abnormal_startle_reflex1.57626564
27MP0001485_abnormal_pinna_reflex1.54066403
28MP0005503_abnormal_tendon_morphology1.53051519
29MP0003011_delayed_dark_adaptation1.48138382
30MP0009053_abnormal_anal_canal1.39811844
31MP0005310_abnormal_salivary_gland1.37177022
32MP0005451_abnormal_body_composition1.34888356
33MP0002735_abnormal_chemical_nociception1.33590899
34MP0001968_abnormal_touch/_nociception1.32182253
35MP0005387_immune_system_phenotype1.20505445
36MP0001790_abnormal_immune_system1.20505445
37MP0001963_abnormal_hearing_physiology1.19060327
38MP0002161_abnormal_fertility/fecundity1.18224484
39MP0004130_abnormal_muscle_cell1.17311162
40MP0000604_amyloidosis1.14516116
41MP0003868_abnormal_feces_composition1.14105723
42MP0005671_abnormal_response_to1.13961621
43MP0002229_neurodegeneration1.13257800
44MP0004742_abnormal_vestibular_system1.12806956
45MP0000470_abnormal_stomach_morphology1.12665228
46MP0005360_urolithiasis1.11805284
47MP0003045_fibrosis1.10537166
48MP0000678_abnormal_parathyroid_gland1.10261709
49MP0009046_muscle_twitch1.08502306
50MP0001765_abnormal_ion_homeostasis1.07256983
51MP0004233_abnormal_muscle_weight1.05836030
52MP0002168_other_aberrant_phenotype1.05185618
53MP0002876_abnormal_thyroid_physiology1.02496060
54MP0000569_abnormal_digit_pigmentation0.99013723
55MP0001664_abnormal_digestion0.97729431
56MP0002127_abnormal_cardiovascular_syste0.96880704
57MP0002733_abnormal_thermal_nociception0.95912371
58MP0008961_abnormal_basal_metabolism0.95823878
59MP0004264_abnormal_extraembryonic_tissu0.94405952
60MP0003880_abnormal_central_pattern0.93999819
61MP0002249_abnormal_larynx_morphology0.93954566
62MP0003632_abnormal_nervous_system0.93488287
63MP0008872_abnormal_physiological_respon0.88479937
64MP0003303_peritoneal_inflammation0.87806633
65MP0005645_abnormal_hypothalamus_physiol0.87590724
66MP0001666_abnormal_nutrient_absorption0.87550287
67MP0003183_abnormal_peptide_metabolism0.87379645
68MP0003959_abnormal_lean_body0.84264601
69MP0002998_abnormal_bone_remodeling0.82724035
70MP0001970_abnormal_pain_threshold0.81851046
71MP0000026_abnormal_inner_ear0.81519766
72MP0005666_abnormal_adipose_tissue0.79275450
73MP0005375_adipose_tissue_phenotype0.78581473
74MP0010329_abnormal_lipoprotein_level0.78387561
75MP0005083_abnormal_biliary_tract0.77158134
76MP0002693_abnormal_pancreas_physiology0.76228919
77MP0009643_abnormal_urine_homeostasis0.76105731
78MP0002210_abnormal_sex_determination0.75257729
79MP0002928_abnormal_bile_duct0.75185852
80MP0000383_abnormal_hair_follicle0.74076272
81MP0003631_nervous_system_phenotype0.73817062
82MP0002067_abnormal_sensory_capabilities0.71727239
83MP0009764_decreased_sensitivity_to0.71436624
84MP0004147_increased_porphyrin_level0.70513725
85MP0003136_yellow_coat_color0.69940282
86MP0001873_stomach_inflammation0.68805516
87MP0005167_abnormal_blood-brain_barrier0.67429903
88MP0003763_abnormal_thymus_physiology0.65347951
89MP0005266_abnormal_metabolism0.64751443
90MP0002572_abnormal_emotion/affect_behav0.63488822
91MP0004510_myositis0.62544365
92MP0002136_abnormal_kidney_physiology0.62491720
93MP0001756_abnormal_urination0.62466794
94MP0001800_abnormal_humoral_immune0.61336279
95MP0000749_muscle_degeneration0.61332328
96MP0000427_abnormal_hair_cycle0.59429023
97MP0002933_joint_inflammation0.58128427
98MP0001533_abnormal_skeleton_physiology0.58074999
99MP0003633_abnormal_nervous_system0.57019995
100MP0005395_other_phenotype0.56936377

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)5.19854061
2Attenuation of retinal blood vessels (HP:0007843)5.03969210
3Bony spicule pigmentary retinopathy (HP:0007737)4.85860889
4Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.09047600
5Hyperkalemia (HP:0002153)4.07645191
6Genetic anticipation (HP:0003743)3.89347513
7Dynein arm defect of respiratory motile cilia (HP:0012255)3.76560333
8Absent/shortened dynein arms (HP:0200106)3.76560333
9Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.57950110
10Nasal polyposis (HP:0100582)3.29563088
11Ileus (HP:0002595)3.29177142
12Amelogenesis imperfecta (HP:0000705)3.24513633
13Abnormal ciliary motility (HP:0012262)3.22128615
14Increased neuronal autofluorescent lipopigment (HP:0002074)3.19475681
15Chronic hepatic failure (HP:0100626)3.10276261
16Tubular atrophy (HP:0000092)3.09601020
17Cone-rod dystrophy (HP:0000548)3.07661071
18Type II lissencephaly (HP:0007260)3.03978850
19Asymmetric septal hypertrophy (HP:0001670)3.01884497
20Progressive cerebellar ataxia (HP:0002073)3.01470790
21Gastrointestinal infarctions (HP:0005244)3.00876960
22Congenital stationary night blindness (HP:0007642)2.96282510
23Pancreatic cysts (HP:0001737)2.87938639
24Cerebellar dysplasia (HP:0007033)2.85860379
25Abnormality of the nasal mucosa (HP:0000433)2.81669197
26Hypoplastic ischia (HP:0003175)2.81393309
27Decreased circulating renin level (HP:0003351)2.80349877
28Cystic liver disease (HP:0006706)2.80238373
29Epiphyseal dysplasia (HP:0002656)2.79493202
30Increased cerebral lipofuscin (HP:0011813)2.73538474
31Pancreatic fibrosis (HP:0100732)2.71207329
32Abnormality of macular pigmentation (HP:0008002)2.70556518
33Fatigable weakness (HP:0003473)2.68895461
34Abnormality of the neuromuscular junction (HP:0003398)2.68895461
35Abnormal respiratory epithelium morphology (HP:0012253)2.68621188
36Abnormal respiratory motile cilium morphology (HP:0005938)2.68621188
37Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.67226250
38Abnormal respiratory motile cilium physiology (HP:0012261)2.61444944
39Potter facies (HP:0002009)2.52965078
40Facial shape deformation (HP:0011334)2.52965078
41Polydipsia (HP:0001959)2.50426753
42Abnormal drinking behavior (HP:0030082)2.50426753
43Vacuolated lymphocytes (HP:0001922)2.49835583
44Nephronophthisis (HP:0000090)2.48345863
45Congenital sensorineural hearing impairment (HP:0008527)2.46047295
46Abnormality of the ischium (HP:0003174)2.45977890
47Abnormality of dental color (HP:0011073)2.42351533
48True hermaphroditism (HP:0010459)2.40947646
49Abnormal urine output (HP:0012590)2.38056435
50Portal hypertension (HP:0001409)2.36769002
51Central scotoma (HP:0000603)2.36216278
52Hyponatremia (HP:0002902)2.34548287
53Scotoma (HP:0000575)2.30480809
54Optic nerve hypoplasia (HP:0000609)2.27739329
55Diplopia (HP:0000651)2.27111391
56Abnormality of binocular vision (HP:0011514)2.27111391
57Polyuria (HP:0000103)2.23950994
58Abnormality of potassium homeostasis (HP:0011042)2.20417428
59Global brain atrophy (HP:0002283)2.20189819
60Abolished electroretinogram (ERG) (HP:0000550)2.19053442
61Abnormality of the renal medulla (HP:0100957)2.19008516
62Abnormality of the hepatic vasculature (HP:0006707)2.18312574
63Truncal obesity (HP:0001956)2.18287344
64Stage 5 chronic kidney disease (HP:0003774)2.15631590
65Chorioretinal atrophy (HP:0000533)2.13585918
66Postural instability (HP:0002172)2.13412527
67Clumsiness (HP:0002312)2.12842391
68Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.11739749
69Abnormality of midbrain morphology (HP:0002418)2.07170242
70Molar tooth sign on MRI (HP:0002419)2.07170242
71Increased corneal curvature (HP:0100692)2.05569011
72Keratoconus (HP:0000563)2.05569011
73Easy fatigability (HP:0003388)2.02577676
74Neoplasm of head and neck (HP:0012288)2.00983344
75Esophageal neoplasm (HP:0100751)2.00983344
76Bell-shaped thorax (HP:0001591)2.00129793
77Enlarged epiphyses (HP:0010580)1.99651723
78Mesangial abnormality (HP:0001966)1.97829744
79Abnormality of renal excretion (HP:0011036)1.91781799
80Bronchomalacia (HP:0002780)1.90358440
81Thyroid-stimulating hormone excess (HP:0002925)1.87348812
82Generalized aminoaciduria (HP:0002909)1.87347386
83Tubulointerstitial nephritis (HP:0001970)1.86480849
84Macular degeneration (HP:0000608)1.85307109
85Azoospermia (HP:0000027)1.85133998
86Sclerocornea (HP:0000647)1.84032085
87Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.83616797
88Abnormality of the pubic bones (HP:0003172)1.81648814
89Gaze-evoked nystagmus (HP:0000640)1.80244112
90Impaired smooth pursuit (HP:0007772)1.78079868
91Abnormality of sodium homeostasis (HP:0010931)1.76546115
92Oligodontia (HP:0000677)1.75827908
93Hypoalbuminemia (HP:0003073)1.75456459
94Abnormal albumin level (HP:0012116)1.75456459
95Hypochromic anemia (HP:0001931)1.74666613
96Tracheomalacia (HP:0002779)1.74180151
97Peritonitis (HP:0002586)1.73187973
98Progressive visual loss (HP:0000529)1.73154591
99Abnormal rod and cone electroretinograms (HP:0008323)1.72505970
100Stereotypic behavior (HP:0000733)1.68464582

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK5.41195065
2INSRR5.22669416
3FRK3.33516137
4PLK43.32511422
5CDK123.10959117
6DDR22.94178290
7ADRBK22.90348491
8STK382.49715672
9PTK2B2.16052486
10STK38L2.11891531
11BRD42.10749783
12BMPR1B2.06460846
13LATS12.04184006
14PIK3CG1.73772664
15GRK11.68835580
16PRKD31.62609416
17PDK11.62546618
18SIK21.61871606
19PDPK11.42687630
20MST1R1.41954508
21PKN21.37097903
22TYRO31.32069598
23MAP3K71.24917842
24CAMK1G1.24893970
25BTK1.22509358
26WNK11.19534656
27CASK1.17862088
28RPS6KA21.10354951
29TXK1.03470484
30MAPK151.02397508
31DYRK1B1.01276644
32JAK30.96099185
33RPS6KA60.94461890
34CAMK1D0.92757712
35FGFR30.92019711
36ADRBK10.91418184
37SYK0.90943886
38PLK20.88443405
39HCK0.88187089
40PRKAA20.87611030
41TESK10.86669542
42TRPM70.86059824
43WNK40.85059809
44PNCK0.80437989
45NTRK30.79913926
46NEK20.74483825
47KSR20.72996166
48RPS6KC10.72833318
49RPS6KL10.72833318
50ACVR1B0.72417014
51MAP3K20.70446656
52ERN10.68172386
53MAP4K10.66744617
54BLK0.66213888
55FLT30.65577978
56DAPK20.63057452
57MAP4K20.62870433
58IRAK30.61596543
59IKBKB0.61397183
60CDK80.58205902
61PRKG20.54439524
62CSF1R0.54022174
63NME10.52818954
64PRKCG0.50951044
65MAPK70.50815456
66CSK0.47660245
67MAP3K10.47536283
68JAK20.46545128
69TNK20.45902222
70TGFBR20.45115360
71LATS20.44577412
72AKT30.44161989
73PRKG10.44012699
74EPHA20.43692986
75MAPK130.42729836
76IRAK10.42341305
77MAPK10.42121070
78MAP2K10.41337838
79RET0.41187690
80PDGFRB0.41056108
81PRKCE0.40269287
82ITK0.40165058
83TEC0.39919199
84PKN10.39552364
85CDK90.39543725
86CDK40.38249677
87PRKCH0.36513629
88PRKACB0.36333192
89LCK0.35009493
90CAMK10.34908316
91OXSR10.34404716
92MAPK110.34263064
93MAP2K20.34185771
94MTOR0.34104125
95BMX0.34099898
96TRIB30.32462629
97PRKCB0.32200244
98DYRK1A0.31551357
99GSK3B0.31323500
100CDK70.30216688

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000612.88669065
2Nitrogen metabolism_Homo sapiens_hsa009102.81297885
3Olfactory transduction_Homo sapiens_hsa047402.29964334
4ABC transporters_Homo sapiens_hsa020102.20707427
5Butanoate metabolism_Homo sapiens_hsa006501.97775012
6Taste transduction_Homo sapiens_hsa047421.83132710
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.75019954
8Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.71579577
9Glycerophospholipid metabolism_Homo sapiens_hsa005641.69857834
10Dorso-ventral axis formation_Homo sapiens_hsa043201.64915509
11Phototransduction_Homo sapiens_hsa047441.62701979
12Glycerolipid metabolism_Homo sapiens_hsa005611.62447667
13Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.55683122
14Linoleic acid metabolism_Homo sapiens_hsa005911.47420715
15Morphine addiction_Homo sapiens_hsa050321.43682280
16Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.43487061
17Tryptophan metabolism_Homo sapiens_hsa003801.39225426
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32817734
19Graft-versus-host disease_Homo sapiens_hsa053321.18055713
20Steroid hormone biosynthesis_Homo sapiens_hsa001401.17887977
21Ether lipid metabolism_Homo sapiens_hsa005651.13219496
22Glycosaminoglycan degradation_Homo sapiens_hsa005311.13156651
23Calcium signaling pathway_Homo sapiens_hsa040201.12788816
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.10774315
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.09691777
26Vascular smooth muscle contraction_Homo sapiens_hsa042701.07681909
27Glutamatergic synapse_Homo sapiens_hsa047241.06683674
28ECM-receptor interaction_Homo sapiens_hsa045121.06151651
29Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.03276627
30Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02632011
31Platelet activation_Homo sapiens_hsa046111.00107442
32Complement and coagulation cascades_Homo sapiens_hsa046100.96244977
33Intestinal immune network for IgA production_Homo sapiens_hsa046720.95509081
34Autoimmune thyroid disease_Homo sapiens_hsa053200.94179879
35Staphylococcus aureus infection_Homo sapiens_hsa051500.93908218
36Circadian entrainment_Homo sapiens_hsa047130.93469548
37Serotonergic synapse_Homo sapiens_hsa047260.92305637
38Allograft rejection_Homo sapiens_hsa053300.91722458
39Nicotine addiction_Homo sapiens_hsa050330.89082125
40Ovarian steroidogenesis_Homo sapiens_hsa049130.88831599
41Sphingolipid metabolism_Homo sapiens_hsa006000.88575414
42Antigen processing and presentation_Homo sapiens_hsa046120.88055381
43Bile secretion_Homo sapiens_hsa049760.87041017
44Phosphatidylinositol signaling system_Homo sapiens_hsa040700.85500479
45Hedgehog signaling pathway_Homo sapiens_hsa043400.83658087
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.83447506
47Retinol metabolism_Homo sapiens_hsa008300.82921665
48Primary bile acid biosynthesis_Homo sapiens_hsa001200.80524227
49PPAR signaling pathway_Homo sapiens_hsa033200.79700726
50cAMP signaling pathway_Homo sapiens_hsa040240.78950066
51Adipocytokine signaling pathway_Homo sapiens_hsa049200.77888839
52Fatty acid degradation_Homo sapiens_hsa000710.77353142
53Chemical carcinogenesis_Homo sapiens_hsa052040.77353089
54Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.76436124
55Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.73305641
56Salivary secretion_Homo sapiens_hsa049700.72494568
57Estrogen signaling pathway_Homo sapiens_hsa049150.71972735
58T cell receptor signaling pathway_Homo sapiens_hsa046600.69747224
59Aldosterone synthesis and secretion_Homo sapiens_hsa049250.69616302
60Histidine metabolism_Homo sapiens_hsa003400.68311209
61Arachidonic acid metabolism_Homo sapiens_hsa005900.66732375
62Type II diabetes mellitus_Homo sapiens_hsa049300.66072536
63MAPK signaling pathway_Homo sapiens_hsa040100.65299096
64Inositol phosphate metabolism_Homo sapiens_hsa005620.65111949
65Protein digestion and absorption_Homo sapiens_hsa049740.63967051
66Hematopoietic cell lineage_Homo sapiens_hsa046400.63817276
67Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.61470944
68Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.60595410
69Oxytocin signaling pathway_Homo sapiens_hsa049210.59983819
70Fat digestion and absorption_Homo sapiens_hsa049750.59497608
71Gastric acid secretion_Homo sapiens_hsa049710.58512659
72Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.58325155
73Other glycan degradation_Homo sapiens_hsa005110.57741144
74Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56405002
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56080827
76Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.55291555
77Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.54998730
78Malaria_Homo sapiens_hsa051440.54705224
79Cholinergic synapse_Homo sapiens_hsa047250.53943709
80Lysosome_Homo sapiens_hsa041420.53910565
81Pancreatic secretion_Homo sapiens_hsa049720.53408698
82B cell receptor signaling pathway_Homo sapiens_hsa046620.53396160
83Toxoplasmosis_Homo sapiens_hsa051450.52559618
84Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51601265
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49945013
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.49718727
87GABAergic synapse_Homo sapiens_hsa047270.49245568
88Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48187018
89Basal cell carcinoma_Homo sapiens_hsa052170.48027607
90Insulin secretion_Homo sapiens_hsa049110.47600142
91Osteoclast differentiation_Homo sapiens_hsa043800.47170572
92Type I diabetes mellitus_Homo sapiens_hsa049400.45818642
93Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.45540465
94Dilated cardiomyopathy_Homo sapiens_hsa054140.44871417
95NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44343262
96Choline metabolism in cancer_Homo sapiens_hsa052310.44223309
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43825005
98Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.43228334
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43213847
100Insulin resistance_Homo sapiens_hsa049310.42294438

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