KIAA0586

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: This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to pheromone (GO:0019236)4.04636048
2replication fork processing (GO:0031297)3.74987494
3centriole replication (GO:0007099)3.68192973
4protein polyglutamylation (GO:0018095)3.57981339
5behavioral response to nicotine (GO:0035095)3.55794640
6protein K11-linked deubiquitination (GO:0035871)3.50850878
7indolalkylamine metabolic process (GO:0006586)3.39660429
8meiotic chromosome segregation (GO:0045132)3.39442612
9recombinational repair (GO:0000725)3.36566957
10resolution of meiotic recombination intermediates (GO:0000712)3.35972411
11synapsis (GO:0007129)3.32758731
12double-strand break repair via homologous recombination (GO:0000724)3.32641099
13fucose catabolic process (GO:0019317)3.31826228
14L-fucose metabolic process (GO:0042354)3.31826228
15L-fucose catabolic process (GO:0042355)3.31826228
16neural tube formation (GO:0001841)3.28749599
17epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.27525491
18negative regulation of DNA-dependent DNA replication (GO:2000104)3.23860336
19regulation of centriole replication (GO:0046599)3.22947222
20somatic hypermutation of immunoglobulin genes (GO:0016446)3.21502563
21somatic diversification of immune receptors via somatic mutation (GO:0002566)3.21502563
22regulation of DNA endoreduplication (GO:0032875)3.18121235
23DNA double-strand break processing (GO:0000729)3.16088649
24regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.13307085
25regulation of mitotic spindle checkpoint (GO:1903504)3.13307085
26microtubule depolymerization (GO:0007019)3.11828312
27protein K6-linked ubiquitination (GO:0085020)3.08034095
28tryptophan metabolic process (GO:0006568)3.06625759
29RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.04719098
30histone-serine phosphorylation (GO:0035404)3.01889525
31piRNA metabolic process (GO:0034587)3.01312558
32indole-containing compound catabolic process (GO:0042436)2.97728510
33indolalkylamine catabolic process (GO:0046218)2.97728510
34tryptophan catabolic process (GO:0006569)2.97728510
35microtubule anchoring (GO:0034453)2.96695571
36kynurenine metabolic process (GO:0070189)2.96293856
37reciprocal DNA recombination (GO:0035825)2.96151539
38reciprocal meiotic recombination (GO:0007131)2.96151539
39maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.93670004
40histone exchange (GO:0043486)2.88983109
41chromatin remodeling at centromere (GO:0031055)2.86843482
42kinetochore organization (GO:0051383)2.86474946
43establishment of protein localization to Golgi (GO:0072600)2.82843302
44DNA replication-dependent nucleosome organization (GO:0034723)2.81181784
45DNA replication-dependent nucleosome assembly (GO:0006335)2.81181784
46epithelial cilium movement (GO:0003351)2.81043961
47cell wall macromolecule catabolic process (GO:0016998)2.79840755
48CENP-A containing nucleosome assembly (GO:0034080)2.79438216
49detection of light stimulus involved in sensory perception (GO:0050962)2.79020144
50detection of light stimulus involved in visual perception (GO:0050908)2.79020144
51retinal cone cell development (GO:0046549)2.78920612
52rRNA catabolic process (GO:0016075)2.78904153
53interkinetic nuclear migration (GO:0022027)2.72581742
54centrosome organization (GO:0051297)2.71571629
55microtubule organizing center organization (GO:0031023)2.67413792
56monoubiquitinated protein deubiquitination (GO:0035520)2.67174856
57regulation of meiosis I (GO:0060631)2.65448809
58somite development (GO:0061053)2.64048008
59attachment of spindle microtubules to kinetochore (GO:0008608)2.61769835
60preassembly of GPI anchor in ER membrane (GO:0016254)2.61646691
61protein prenylation (GO:0018342)2.61048989
62prenylation (GO:0097354)2.61048989
63regulation of hippo signaling (GO:0035330)2.60658652
64positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.58717080
65positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.58717080
66positive regulation of mitotic sister chromatid separation (GO:1901970)2.58717080
67water-soluble vitamin biosynthetic process (GO:0042364)2.58532846
68regulation of translation, ncRNA-mediated (GO:0045974)2.56665275
69negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.56665275
70negative regulation of translation, ncRNA-mediated (GO:0040033)2.56665275
71protein localization to kinetochore (GO:0034501)2.56000820
72detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.54817904
73regulation of centrosome cycle (GO:0046605)2.54213706
74kidney morphogenesis (GO:0060993)2.54109524
75axoneme assembly (GO:0035082)2.54108211
76somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.54084197
77somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.54084197
78isotype switching (GO:0045190)2.54084197
79DNA-dependent DNA replication (GO:0006261)2.53444301
80regulation of glucokinase activity (GO:0033131)2.52412363
81regulation of hexokinase activity (GO:1903299)2.52412363
82protein K48-linked deubiquitination (GO:0071108)2.51595425
83NADH dehydrogenase complex assembly (GO:0010257)2.49939878
84mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.49939878
85mitochondrial respiratory chain complex I assembly (GO:0032981)2.49939878
86DNA methylation involved in gamete generation (GO:0043046)2.49231368
87regulation of centrosome duplication (GO:0010824)2.49080880
88respiratory chain complex IV assembly (GO:0008535)2.48933323
89microtubule polymerization or depolymerization (GO:0031109)2.48796584
90kinetochore assembly (GO:0051382)2.48298992
91sister chromatid segregation (GO:0000819)2.46326011
92protein targeting to Golgi (GO:0000042)2.45969357
93male meiosis (GO:0007140)2.45799226
94regulation of nuclear cell cycle DNA replication (GO:0033262)2.45445464
95DNA deamination (GO:0045006)2.44711691
96* cilium organization (GO:0044782)2.44559416
97photoreceptor cell maintenance (GO:0045494)2.44063178
98cell wall macromolecule metabolic process (GO:0044036)2.44000892
99L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.43595117
100cellular ketone body metabolic process (GO:0046950)2.43141706

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.68119000
2ZNF274_21170338_ChIP-Seq_K562_Hela3.20953544
3SALL1_21062744_ChIP-ChIP_HESCs_Human2.87637305
4GBX2_23144817_ChIP-Seq_PC3_Human2.86971078
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.84913819
6VDR_22108803_ChIP-Seq_LS180_Human2.80359648
7FUS_26573619_Chip-Seq_HEK293_Human2.62881487
8IGF1R_20145208_ChIP-Seq_DFB_Human2.56992765
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.54170363
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49264901
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.46064503
12EWS_26573619_Chip-Seq_HEK293_Human2.33292290
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.32752738
14BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.30187183
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.25925331
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.22873230
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18389759
18TAF15_26573619_Chip-Seq_HEK293_Human2.10652255
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.07533637
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.03063457
21P300_19829295_ChIP-Seq_ESCs_Human1.93046405
22ER_23166858_ChIP-Seq_MCF-7_Human1.92586780
23CTBP1_25329375_ChIP-Seq_LNCAP_Human1.87069141
24* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.85687494
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.82898834
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.80226813
27PCGF2_27294783_Chip-Seq_ESCs_Mouse1.76245160
28ELK1_19687146_ChIP-ChIP_HELA_Human1.72761673
29EST1_17652178_ChIP-ChIP_JURKAT_Human1.69869684
30STAT3_23295773_ChIP-Seq_U87_Human1.68684727
31KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.68558504
32E2F7_22180533_ChIP-Seq_HELA_Human1.63588274
33SMAD4_21799915_ChIP-Seq_A2780_Human1.59365733
34MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.57278794
35FOXM1_23109430_ChIP-Seq_U2OS_Human1.56158062
36UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.50228772
37GABP_17652178_ChIP-ChIP_JURKAT_Human1.49922775
38TCF4_23295773_ChIP-Seq_U87_Human1.48507997
39EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46778249
40IRF1_19129219_ChIP-ChIP_H3396_Human1.46424769
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43975264
42CBP_20019798_ChIP-Seq_JUKART_Human1.43975264
43EZH2_27294783_Chip-Seq_NPCs_Mouse1.42891719
44SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42233557
45MYC_18940864_ChIP-ChIP_HL60_Human1.40840635
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40748672
47BCAT_22108803_ChIP-Seq_LS180_Human1.40104365
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38547034
49MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.38054231
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.37785143
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.35595655
52NOTCH1_21737748_ChIP-Seq_TLL_Human1.34746931
53EZH2_22144423_ChIP-Seq_EOC_Human1.33161612
54PIAS1_25552417_ChIP-Seq_VCAP_Human1.32238309
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32044535
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.30931179
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30931179
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29568042
59AR_25329375_ChIP-Seq_VCAP_Human1.29198592
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.28553754
61NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28006337
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.27433901
63TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.26594453
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26297881
65TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.25457429
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25060317
67* TP53_22573176_ChIP-Seq_HFKS_Human1.24746630
68VDR_23849224_ChIP-Seq_CD4+_Human1.23826255
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23678468
70KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.22089657
71FLI1_21867929_ChIP-Seq_TH2_Mouse1.20741570
72CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.20647747
73PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.18695535
74PADI4_21655091_ChIP-ChIP_MCF-7_Human1.18286722
75* TCF4_22108803_ChIP-Seq_LS180_Human1.17231623
76PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14551385
77* NANOG_19829295_ChIP-Seq_ESCs_Human1.14528315
78* SOX2_19829295_ChIP-Seq_ESCs_Human1.14528315
79P53_22387025_ChIP-Seq_ESCs_Mouse1.14311516
80EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13967684
81KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12283877
82E2F1_18555785_Chip-Seq_ESCs_Mouse1.11399393
83CRX_20693478_ChIP-Seq_RETINA_Mouse1.10892466
84RUNX2_22187159_ChIP-Seq_PCA_Human1.10208030
85RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.07881462
86FOXM1_26456572_ChIP-Seq_MCF-7_Human1.07828708
87TP53_16413492_ChIP-PET_HCT116_Human1.06539712
88POU5F1_16153702_ChIP-ChIP_HESCs_Human1.06209727
89* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04670603
90* FOXA1_25329375_ChIP-Seq_VCAP_Human1.04670603
91SMAD4_21741376_ChIP-Seq_EPCs_Human1.04387996
92* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.04163624
93RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03938622
94SUZ12_18555785_Chip-Seq_ESCs_Mouse1.03524401
95TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.03413817
96AR_21572438_ChIP-Seq_LNCaP_Human1.02138963
97STAT3_18555785_Chip-Seq_ESCs_Mouse1.01214567
98* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.00808817
99P300_18555785_Chip-Seq_ESCs_Mouse1.00086299
100PRDM14_20953172_ChIP-Seq_ESCs_Human0.99516979

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.91110462
2MP0008057_abnormal_DNA_replication3.43047642
3MP0008877_abnormal_DNA_methylation3.42173926
4MP0003646_muscle_fatigue2.59950005
5MP0010094_abnormal_chromosome_stability2.47941653
6MP0006072_abnormal_retinal_apoptosis2.30130392
7MP0008058_abnormal_DNA_repair2.27903578
8MP0002837_dystrophic_cardiac_calcinosis2.27470271
9MP0003890_abnormal_embryonic-extraembry2.17448375
10MP0006292_abnormal_olfactory_placode2.11161240
11MP0002102_abnormal_ear_morphology2.03242992
12MP0003787_abnormal_imprinting2.02704077
13MP0003718_maternal_effect1.99070869
14MP0005551_abnormal_eye_electrophysiolog1.97535085
15MP0000372_irregular_coat_pigmentation1.97417269
16MP0000427_abnormal_hair_cycle1.97076236
17MP0005253_abnormal_eye_physiology1.95515841
18MP0009697_abnormal_copulation1.89297576
19MP0002938_white_spotting1.84910936
20MP0009046_muscle_twitch1.83528268
21MP0002638_abnormal_pupillary_reflex1.68909847
22MP0004147_increased_porphyrin_level1.67779920
23MP0003195_calcinosis1.64555645
24MP0008872_abnormal_physiological_respon1.62395857
25MP0004145_abnormal_muscle_electrophysio1.61308494
26MP0005174_abnormal_tail_pigmentation1.60405975
27MP0004142_abnormal_muscle_tone1.60256836
28MP0000383_abnormal_hair_follicle1.55145252
29MP0005075_abnormal_melanosome_morpholog1.46848006
30MP0004043_abnormal_pH_regulation1.46472066
31MP0004215_abnormal_myocardial_fiber1.45214626
32MP0000631_abnormal_neuroendocrine_gland1.43331773
33MP0003693_abnormal_embryo_hatching1.39570218
34MP0001929_abnormal_gametogenesis1.37860231
35MP0005410_abnormal_fertilization1.35764006
36MP0003937_abnormal_limbs/digits/tail_de1.33053146
37MP0002160_abnormal_reproductive_system1.32498782
38MP0001485_abnormal_pinna_reflex1.27492572
39MP0005389_reproductive_system_phenotype1.26758117
40MP0002234_abnormal_pharynx_morphology1.25750688
41MP0008007_abnormal_cellular_replicative1.22682463
42MP0001293_anophthalmia1.22458906
43MP0003698_abnormal_male_reproductive1.22036605
44MP0005187_abnormal_penis_morphology1.19717861
45MP0002095_abnormal_skin_pigmentation1.18858650
46MP0003111_abnormal_nucleus_morphology1.17421563
47MP0000647_abnormal_sebaceous_gland1.16306543
48MP0003077_abnormal_cell_cycle1.15414955
49MP0005171_absent_coat_pigmentation1.15129333
50MP0003786_premature_aging1.14960858
51MP0006276_abnormal_autonomic_nervous1.14548074
52MP0003136_yellow_coat_color1.14169620
53MP0002210_abnormal_sex_determination1.13516761
54MP0005646_abnormal_pituitary_gland1.13490610
55MP0001986_abnormal_taste_sensitivity1.11256178
56MP0002751_abnormal_autonomic_nervous1.08093630
57MP0003119_abnormal_digestive_system1.07320467
58MP0001984_abnormal_olfaction1.06452519
59MP0001968_abnormal_touch/_nociception1.05097122
60MP0003950_abnormal_plasma_membrane1.04608192
61MP0003880_abnormal_central_pattern1.02508115
62MP0009745_abnormal_behavioral_response1.00805992
63MP0001919_abnormal_reproductive_system1.00556388
64MP0000653_abnormal_sex_gland0.99827248
65MP0005645_abnormal_hypothalamus_physiol0.98265905
66MP0008775_abnormal_heart_ventricle0.97980807
67MP0005386_behavior/neurological_phenoty0.97134495
68MP0004924_abnormal_behavior0.97134495
69MP0005391_vision/eye_phenotype0.96156055
70MP0002272_abnormal_nervous_system0.96015152
71MP0010678_abnormal_skin_adnexa0.94030386
72MP0004134_abnormal_chest_morphology0.93722810
73MP0001145_abnormal_male_reproductive0.93681027
74MP0002928_abnormal_bile_duct0.92891682
75MP0001529_abnormal_vocalization0.92604139
76MP0005195_abnormal_posterior_eye0.92109500
77MP0002736_abnormal_nociception_after0.91273304
78MP0003121_genomic_imprinting0.89595320
79MP0002876_abnormal_thyroid_physiology0.89550555
80MP0008995_early_reproductive_senescence0.89281400
81MP0005379_endocrine/exocrine_gland_phen0.87631005
82MP0005395_other_phenotype0.87074363
83MP0002163_abnormal_gland_morphology0.86458106
84MP0000778_abnormal_nervous_system0.85734969
85MP0005266_abnormal_metabolism0.84567953
86MP0003011_delayed_dark_adaptation0.83071369
87MP0001661_extended_life_span0.82248033
88MP0001486_abnormal_startle_reflex0.81112846
89MP0004085_abnormal_heartbeat0.79801775
90MP0004133_heterotaxia0.79596063
91MP0001119_abnormal_female_reproductive0.78152634
92MP0004885_abnormal_endolymph0.77814344
93MP0002184_abnormal_innervation0.77130903
94MP0000371_diluted_coat_color0.75937517
95MP0002557_abnormal_social/conspecific_i0.75613011
96MP0002067_abnormal_sensory_capabilities0.74702227
97MP0005084_abnormal_gallbladder_morpholo0.74533730
98MP0002009_preneoplasia0.74372030
99MP0003943_abnormal_hepatobiliary_system0.72924294
100MP0001501_abnormal_sleep_pattern0.72820926

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.85923251
2Abnormality of midbrain morphology (HP:0002418)3.70273446
3Molar tooth sign on MRI (HP:0002419)3.70273446
4Congenital stationary night blindness (HP:0007642)3.51922120
5Pancreatic fibrosis (HP:0100732)3.42060189
6Abnormality of the renal cortex (HP:0011035)3.28524320
7Chromosomal breakage induced by crosslinking agents (HP:0003221)3.27418849
8Nephronophthisis (HP:0000090)3.26348675
9Chromsome breakage (HP:0040012)3.18711388
10True hermaphroditism (HP:0010459)3.17254216
11Aplasia/Hypoplasia of the uvula (HP:0010293)3.02028029
12Chronic hepatic failure (HP:0100626)2.97776979
13Type II lissencephaly (HP:0007260)2.91994161
14Abnormality of the renal medulla (HP:0100957)2.91454043
15Hyperventilation (HP:0002883)2.82117177
16Abnormality of chromosome stability (HP:0003220)2.76489747
17Meckel diverticulum (HP:0002245)2.71481159
18Medial flaring of the eyebrow (HP:0010747)2.69918888
19Abnormality of the ileum (HP:0001549)2.69477545
20Attenuation of retinal blood vessels (HP:0007843)2.67971449
21Renal cortical cysts (HP:0000803)2.61717891
22Fair hair (HP:0002286)2.54158903
23Cerebellar dysplasia (HP:0007033)2.45098108
24Volvulus (HP:0002580)2.44928389
25Abnormality of alanine metabolism (HP:0010916)2.44544684
26Hyperalaninemia (HP:0003348)2.44544684
27Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.44544684
28Clubbing of toes (HP:0100760)2.41976338
29Gaze-evoked nystagmus (HP:0000640)2.39092883
30Tubular atrophy (HP:0000092)2.34178180
31Pendular nystagmus (HP:0012043)2.32258566
32Duplicated collecting system (HP:0000081)2.31333789
33Aplasia/Hypoplasia of the tibia (HP:0005772)2.31024371
34Intestinal atresia (HP:0011100)2.29741745
35Abnormality of the preputium (HP:0100587)2.26252061
36Birth length less than 3rd percentile (HP:0003561)2.26250349
37Sloping forehead (HP:0000340)2.24821169
38Colon cancer (HP:0003003)2.24416417
39Abnormality of the renal collecting system (HP:0004742)2.24217061
40Oligodactyly (hands) (HP:0001180)2.23541418
41Progressive inability to walk (HP:0002505)2.18485813
42Abnormal rod and cone electroretinograms (HP:0008323)2.18378351
43Cystic liver disease (HP:0006706)2.16328347
44Inability to walk (HP:0002540)2.16043341
45Large for gestational age (HP:0001520)2.15468565
46Genetic anticipation (HP:0003743)2.15104015
47Small intestinal stenosis (HP:0012848)2.14183662
48Duodenal stenosis (HP:0100867)2.14183662
49Hypothermia (HP:0002045)2.10686427
50Methylmalonic acidemia (HP:0002912)2.09294348
51Sclerocornea (HP:0000647)2.08900596
52Patellar aplasia (HP:0006443)2.07742195
53Lissencephaly (HP:0001339)2.05446538
54Congenital primary aphakia (HP:0007707)2.04046013
55Abnormality of DNA repair (HP:0003254)2.03744785
56Abnormality of the carotid arteries (HP:0005344)2.03269779
57Abnormality of the duodenum (HP:0002246)2.02300603
58Gait imbalance (HP:0002141)1.98972514
59Ectopic kidney (HP:0000086)1.98131705
60Tubulointerstitial nephritis (HP:0001970)1.97565987
61Bony spicule pigmentary retinopathy (HP:0007737)1.94670051
62Abolished electroretinogram (ERG) (HP:0000550)1.93745444
63Aplasia/Hypoplasia of the patella (HP:0006498)1.92714194
64Aplasia/Hypoplasia of the tongue (HP:0010295)1.91619188
65Glioma (HP:0009733)1.91373590
66Broad-based gait (HP:0002136)1.91279328
67Protruding tongue (HP:0010808)1.89618293
68Chorioretinal atrophy (HP:0000533)1.88052598
69Progressive cerebellar ataxia (HP:0002073)1.87765868
70Dynein arm defect of respiratory motile cilia (HP:0012255)1.87454866
71Absent/shortened dynein arms (HP:0200106)1.87454866
72Generalized hypopigmentation of hair (HP:0011358)1.86675340
73Abnormality of the labia minora (HP:0012880)1.86642207
74Astigmatism (HP:0000483)1.86018003
75Congenital hepatic fibrosis (HP:0002612)1.85009968
76Abnormality of the pons (HP:0007361)1.84363579
77Postaxial foot polydactyly (HP:0001830)1.82776952
78Hypoplasia of the pons (HP:0012110)1.82290068
79Absent thumb (HP:0009777)1.79259055
80Furrowed tongue (HP:0000221)1.78726303
81Poor coordination (HP:0002370)1.78226132
82Small hand (HP:0200055)1.77669367
83Nephrogenic diabetes insipidus (HP:0009806)1.77049125
84Congenital, generalized hypertrichosis (HP:0004540)1.76532678
85Genital tract atresia (HP:0001827)1.75305032
86Anencephaly (HP:0002323)1.75035482
87Aplasia/Hypoplasia of the fovea (HP:0008060)1.74944141
88Hypoplasia of the fovea (HP:0007750)1.74944141
89Thyroiditis (HP:0100646)1.73553741
90Increased CSF lactate (HP:0002490)1.72831840
91Hypoplastic iliac wings (HP:0002866)1.72124375
92Triphalangeal thumb (HP:0001199)1.71831459
93Dandy-Walker malformation (HP:0001305)1.69637756
94Vaginal atresia (HP:0000148)1.68083370
95Male pseudohermaphroditism (HP:0000037)1.67270359
96Short tibia (HP:0005736)1.67045962
97Aplasia/Hypoplasia of the sternum (HP:0006714)1.66835769
98Preaxial hand polydactyly (HP:0001177)1.66283669
99Optic nerve hypoplasia (HP:0000609)1.66077484
100Abnormality of the astrocytes (HP:0100707)1.66067053

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.29260916
2ACVR1B3.28774647
3BMPR1B2.98631438
4ZAK2.96498119
5MAP3K42.39675657
6NUAK12.19885909
7MAP4K22.15510896
8WNK32.02465195
9ADRBK21.93944185
10PLK41.93730550
11MKNK21.85637305
12BRSK21.85598499
13BUB11.85309070
14GRK11.74681121
15INSRR1.69504669
16TXK1.68940874
17EIF2AK31.66547009
18TLK11.66513753
19MAPK131.55329302
20MAP2K71.53108739
21WNK41.48349117
22TNIK1.46990849
23CDC71.41340468
24WEE11.39952782
25OBSCN1.37251972
26STK391.36775265
27PNCK1.36241898
28NEK21.35897810
29CASK1.28531158
30VRK11.27211508
31EIF2AK11.25786562
32PLK31.25036663
33STK38L1.22843155
34MKNK11.20642099
35NLK1.14303786
36STK31.12768821
37TRIM281.10169217
38PLK21.04775755
39TGFBR11.04466944
40NEK11.02326005
41OXSR11.00721135
42PINK10.98907795
43CSNK1G10.98268871
44PLK10.95317029
45BRD40.93804546
46TTK0.92941487
47FGFR20.92716542
48TAOK30.86188123
49ERBB30.85336646
50ATR0.83222762
51CAMKK20.82548011
52MARK10.81630558
53CAMK1G0.81401229
54PAK30.80381474
55CCNB10.80162697
56SRPK10.78814278
57MST40.74858001
58CHEK20.74325092
59ADRBK10.73615485
60MAP2K40.71709395
61ATM0.71120059
62CSNK1G20.67869220
63CAMK1D0.66942485
64PRKCE0.65267851
65AKT30.64060761
66SGK20.62952884
67TEC0.62752390
68CSNK1G30.62215032
69EPHA40.62160258
70DAPK20.60545359
71CSNK1A1L0.56463697
72TAF10.55342603
73WNK10.53898378
74PRKCG0.53625767
75AURKB0.51348083
76RPS6KA50.50845317
77PHKG10.50219940
78PHKG20.50219940
79PTK2B0.50189459
80EIF2AK20.50118204
81PIK3CA0.49446910
82LATS10.49086592
83PIK3CG0.45433025
84CHEK10.45216683
85TRPM70.43835607
86PKN10.42120740
87BCR0.41475897
88PRKAA20.41310998
89TSSK60.40412639
90PRKAA10.39752453
91MARK30.39643934
92PRKCI0.39462227
93CDK30.39212156
94CSNK1D0.38039899
95IRAK10.37739868
96MELK0.37349406
97CDK10.35624161
98GRK70.34928050
99CAMK2A0.33313937
100PRKG10.30631496

Predicted pathways (KEGG)

RankGene SetZ-score
1Fanconi anemia pathway_Homo sapiens_hsa034603.09103721
2Homologous recombination_Homo sapiens_hsa034402.84942114
3Selenocompound metabolism_Homo sapiens_hsa004502.64885774
4Phototransduction_Homo sapiens_hsa047442.56462458
5Non-homologous end-joining_Homo sapiens_hsa034502.51487017
6Basal transcription factors_Homo sapiens_hsa030222.39653847
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.36584163
8RNA polymerase_Homo sapiens_hsa030202.31569852
9Nitrogen metabolism_Homo sapiens_hsa009102.27594021
10Butanoate metabolism_Homo sapiens_hsa006502.06709906
11RNA degradation_Homo sapiens_hsa030182.02107659
12Maturity onset diabetes of the young_Homo sapiens_hsa049502.01710101
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.97253098
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.96885072
15Linoleic acid metabolism_Homo sapiens_hsa005911.92949990
16One carbon pool by folate_Homo sapiens_hsa006701.87032536
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.80575545
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.77045991
19Propanoate metabolism_Homo sapiens_hsa006401.66761329
20Mismatch repair_Homo sapiens_hsa034301.61621849
21Nucleotide excision repair_Homo sapiens_hsa034201.58709895
22Tryptophan metabolism_Homo sapiens_hsa003801.57636520
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.57222312
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.54796150
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.54735981
26Ether lipid metabolism_Homo sapiens_hsa005651.43984216
27Caffeine metabolism_Homo sapiens_hsa002321.43938989
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.42895551
29Protein export_Homo sapiens_hsa030601.41884559
30Nicotine addiction_Homo sapiens_hsa050331.37517677
31RNA transport_Homo sapiens_hsa030131.36210322
32Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.36174025
33Purine metabolism_Homo sapiens_hsa002301.23528182
34ABC transporters_Homo sapiens_hsa020101.21813841
35Oxidative phosphorylation_Homo sapiens_hsa001901.17752886
36Cell cycle_Homo sapiens_hsa041101.17546472
37Olfactory transduction_Homo sapiens_hsa047401.15378459
38Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.13677767
39DNA replication_Homo sapiens_hsa030301.11966827
40Taste transduction_Homo sapiens_hsa047421.11635751
41Dorso-ventral axis formation_Homo sapiens_hsa043201.10951572
42Pyrimidine metabolism_Homo sapiens_hsa002401.01459172
43Systemic lupus erythematosus_Homo sapiens_hsa053220.99049235
44Peroxisome_Homo sapiens_hsa041460.97756840
45Circadian rhythm_Homo sapiens_hsa047100.94865094
46Base excision repair_Homo sapiens_hsa034100.93403583
47Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.91617479
48Lysine degradation_Homo sapiens_hsa003100.89670951
49Morphine addiction_Homo sapiens_hsa050320.89500507
50Regulation of autophagy_Homo sapiens_hsa041400.87628324
51Sulfur metabolism_Homo sapiens_hsa009200.87266423
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86107898
53Alcoholism_Homo sapiens_hsa050340.85902882
54Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85838516
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85640836
56Huntingtons disease_Homo sapiens_hsa050160.85089237
57Parkinsons disease_Homo sapiens_hsa050120.83787245
58Serotonergic synapse_Homo sapiens_hsa047260.79362037
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78831179
60Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.78340969
61Insulin secretion_Homo sapiens_hsa049110.78270389
62Fatty acid biosynthesis_Homo sapiens_hsa000610.77584980
63p53 signaling pathway_Homo sapiens_hsa041150.77084548
64Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76657915
65Circadian entrainment_Homo sapiens_hsa047130.75982318
66Steroid hormone biosynthesis_Homo sapiens_hsa001400.73918977
67Oocyte meiosis_Homo sapiens_hsa041140.72487527
68Ovarian steroidogenesis_Homo sapiens_hsa049130.68562991
69Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.67367955
70Calcium signaling pathway_Homo sapiens_hsa040200.66911492
71Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.65678657
72Primary bile acid biosynthesis_Homo sapiens_hsa001200.63331651
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.63027823
74GABAergic synapse_Homo sapiens_hsa047270.61265782
75Glutamatergic synapse_Homo sapiens_hsa047240.60802182
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.59517754
77Cardiac muscle contraction_Homo sapiens_hsa042600.55373793
78Spliceosome_Homo sapiens_hsa030400.53812879
79beta-Alanine metabolism_Homo sapiens_hsa004100.52370484
80Alzheimers disease_Homo sapiens_hsa050100.51690371
81Long-term depression_Homo sapiens_hsa047300.51283336
82Chemical carcinogenesis_Homo sapiens_hsa052040.51164425
83TGF-beta signaling pathway_Homo sapiens_hsa043500.50629999
84Metabolic pathways_Homo sapiens_hsa011000.49642418
85Salivary secretion_Homo sapiens_hsa049700.48118913
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.48086762
87Dopaminergic synapse_Homo sapiens_hsa047280.47423123
88Proteasome_Homo sapiens_hsa030500.46221602
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45776694
90Retinol metabolism_Homo sapiens_hsa008300.43477703
91Glycerolipid metabolism_Homo sapiens_hsa005610.43277966
92Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40355126
93Hedgehog signaling pathway_Homo sapiens_hsa043400.39395451
94Arachidonic acid metabolism_Homo sapiens_hsa005900.38370330
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.37249336
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.35673222
97mRNA surveillance pathway_Homo sapiens_hsa030150.33914043
98Oxytocin signaling pathway_Homo sapiens_hsa049210.32614558
99Primary immunodeficiency_Homo sapiens_hsa053400.31880162
100cAMP signaling pathway_Homo sapiens_hsa040240.30791091

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