NLRP7

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 member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1apoptotic process involved in morphogenesis (GO:0060561)7.98025274
2mesenchymal cell proliferation (GO:0010463)7.87935944
3craniofacial suture morphogenesis (GO:0097094)7.29170034
4positive regulation of SMAD protein import into nucleus (GO:0060391)7.08265711
5nodal signaling pathway (GO:0038092)6.89597409
6primitive streak formation (GO:0090009)6.67818694
7apoptotic process involved in development (GO:1902742)5.88014344
8embryonic process involved in female pregnancy (GO:0060136)5.69603370
9negative regulation of androgen receptor signaling pathway (GO:0060766)5.66460673
10regulation of gene expression by genetic imprinting (GO:0006349)5.58231664
11regulation of DNA methylation (GO:0044030)5.46435927
12histone arginine methylation (GO:0034969)5.42579633
13regulation of SMAD protein import into nucleus (GO:0060390)5.26019995
14notochord development (GO:0030903)5.13581026
15blastocyst development (GO:0001824)4.82170283
16negative regulation of gene silencing (GO:0060969)4.81431210
17developmental programmed cell death (GO:0010623)4.73253589
18regulation of gene silencing by miRNA (GO:0060964)4.56476429
19regulation of gene silencing by RNA (GO:0060966)4.56476429
20regulation of posttranscriptional gene silencing (GO:0060147)4.56476429
21maternal placenta development (GO:0001893)4.55017852
22ribosomal small subunit assembly (GO:0000028)4.52820729
23cell aggregation (GO:0098743)4.47108998
24cartilage condensation (GO:0001502)4.47108998
25cell migration involved in gastrulation (GO:0042074)4.39863456
26response to dietary excess (GO:0002021)4.32144063
27negative regulation of microtubule polymerization (GO:0031115)4.15907459
28negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.15436491
29genetic imprinting (GO:0071514)4.12764292
30negative regulation of epidermal cell differentiation (GO:0045605)4.09205901
31cell fate commitment involved in formation of primary germ layer (GO:0060795)4.05102778
32pentose metabolic process (GO:0019321)4.03113905
33positive regulation of interleukin-1 beta secretion (GO:0050718)4.01302378
34regulation of activin receptor signaling pathway (GO:0032925)3.98992831
35ncRNA 3-end processing (GO:0043628)3.98367259
36protein complex localization (GO:0031503)3.92890524
37morphogenesis of an epithelial fold (GO:0060571)3.91012002
38determination of adult lifespan (GO:0008340)3.80188821
39SMAD protein signal transduction (GO:0060395)3.78293805
404-hydroxyproline metabolic process (GO:0019471)3.76804684
41regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901213.76458118
42positive regulation of interleukin-1 secretion (GO:0050716)3.74512159
43mitochondrial RNA metabolic process (GO:0000959)3.71562523
44regulation of interleukin-1 beta secretion (GO:0050706)3.67060614
45embryonic hindlimb morphogenesis (GO:0035116)3.61511453
46placenta development (GO:0001890)3.59060466
47myeloid cell homeostasis (GO:0002262)3.56041260
48regulation of chromatin silencing (GO:0031935)3.53166117
49regulation of timing of cell differentiation (GO:0048505)3.47018252
50negative regulation of epidermis development (GO:0045683)3.46656063
51somite rostral/caudal axis specification (GO:0032525)3.43591572
52spindle assembly involved in mitosis (GO:0090307)3.42314906
53serine family amino acid biosynthetic process (GO:0009070)3.36065860
54activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.32009666
55cellular response to zinc ion (GO:0071294)3.31766131
56glycogen catabolic process (GO:0005980)3.31566820
57formation of translation preinitiation complex (GO:0001731)3.30093473
58morphogenesis of embryonic epithelium (GO:0016331)3.29540139
59cellular response to cadmium ion (GO:0071276)3.29416233
60regulation of interleukin-1 secretion (GO:0050704)3.28628446
61mitochondrial fusion (GO:0008053)3.26572584
62regulation of stem cell maintenance (GO:2000036)3.24558713
63proline metabolic process (GO:0006560)3.23199981
64transcription from mitochondrial promoter (GO:0006390)3.19408728
65trophoblast giant cell differentiation (GO:0060707)3.18039031
66DNA methylation (GO:0006306)3.16126427
67DNA alkylation (GO:0006305)3.16126427
68regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.14997736
69regulation of cellular respiration (GO:0043457)3.13996585
70lung-associated mesenchyme development (GO:0060484)3.11260525
71cellular protein complex localization (GO:0034629)3.10362366
72protein localization to chromosome, centromeric region (GO:0071459)3.09183864
73regulation of development, heterochronic (GO:0040034)3.08864395
74glucan catabolic process (GO:0009251)3.07647908
75lung morphogenesis (GO:0060425)3.06452337
76DNA unwinding involved in DNA replication (GO:0006268)3.04815030
77activin receptor signaling pathway (GO:0032924)3.00426940
78negative regulation of activin receptor signaling pathway (GO:0032926)2.93306632
79regulation of mesoderm development (GO:2000380)2.93080383
80L-serine metabolic process (GO:0006563)2.92381154
81regulation of androgen receptor signaling pathway (GO:0060765)2.92172446
82digestive tract morphogenesis (GO:0048546)2.90620629
83negative regulation of macroautophagy (GO:0016242)2.88492616
84positive regulation of regulated secretory pathway (GO:1903307)2.88351636
85cellular polysaccharide catabolic process (GO:0044247)2.87319160
86mitotic metaphase plate congression (GO:0007080)2.83191188
87collecting duct development (GO:0072044)2.81191348
88hindlimb morphogenesis (GO:0035137)2.76454015
89vagina development (GO:0060068)2.74946197
90negative regulation of chemokine production (GO:0032682)2.74250352
91branching involved in labyrinthine layer morphogenesis (GO:0060670)2.70702417
92regulation of cell fate commitment (GO:0010453)2.65473088
93regulation of oxidative phosphorylation (GO:0002082)2.64664664
94serine family amino acid catabolic process (GO:0009071)2.64334147
95positive regulation of interleukin-1 beta production (GO:0032731)2.64259220
96regulation of protein heterodimerization activity (GO:0043497)2.64126384
97DNA replication initiation (GO:0006270)2.62600290
98negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.61701029
99cell migration in hindbrain (GO:0021535)2.61054928
100cranial suture morphogenesis (GO:0060363)11.0402561

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.06143299
2E2F7_22180533_ChIP-Seq_HELA_Human3.15159666
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.12046150
4ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.82942037
5POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.74415909
6MYC_19079543_ChIP-ChIP_MESCs_Mouse2.66628464
7NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.65505460
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.65017283
9POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.58235409
10TCF3_18692474_ChIP-Seq_MEFs_Mouse2.54023639
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.50672702
12NANOG_18555785_ChIP-Seq_MESCs_Mouse2.45286997
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.31864183
14NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.28441539
15MYC_19030024_ChIP-ChIP_MESCs_Mouse2.28063533
16NELFA_20434984_ChIP-Seq_ESCs_Mouse2.21943845
17SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.13926791
18YY1_21170310_ChIP-Seq_MESCs_Mouse2.12320530
19NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.09833241
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.05916699
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.05502692
22ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.00745143
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.95812819
24SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.86266015
25E2F1_18555785_ChIP-Seq_MESCs_Mouse1.85103919
26KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.84624211
27TCF3_18692474_ChIP-Seq_MESCs_Mouse1.80443754
28SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.77006564
29POU5F1_16518401_ChIP-PET_MESCs_Mouse1.75756279
30ELF1_17652178_ChIP-ChIP_JURKAT_Human1.75108006
31CREB1_15753290_ChIP-ChIP_HEK293T_Human1.74010012
32KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.73514291
33ZNF263_19887448_ChIP-Seq_K562_Human1.72330785
34OCT4_18692474_ChIP-Seq_MEFs_Mouse1.70991570
35SOX2_18692474_ChIP-Seq_MEFs_Mouse1.70283034
36NANOG_18692474_ChIP-Seq_MEFs_Mouse1.66850402
37NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.66758265
38GATA1_26923725_Chip-Seq_HPCs_Mouse1.65739972
39SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.62830009
40KLF4_18555785_ChIP-Seq_MESCs_Mouse1.61319711
41ETS1_20019798_ChIP-Seq_JURKAT_Human1.60139627
42CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.59085929
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.58173402
44FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.56001433
45KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.54775420
46KAP1_27257070_Chip-Seq_ESCs_Mouse1.53628159
47XRN2_22483619_ChIP-Seq_HELA_Human1.53385041
48KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.53269594
49KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.53269594
50KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.53269594
51CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.50782358
52POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.48911995
53NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.48228380
54DCP1A_22483619_ChIP-Seq_HELA_Human1.43757751
55E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.43749711
56TTF2_22483619_ChIP-Seq_HELA_Human1.42954699
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.41346799
58SOX2_18692474_ChIP-Seq_MESCs_Mouse1.37938020
59NANOG_18692474_ChIP-Seq_MESCs_Mouse1.37382826
60ZFX_18555785_ChIP-Seq_MESCs_Mouse1.36804775
61TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.36201601
62HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.32983409
63STAT3_1855785_ChIP-Seq_MESCs_Mouse1.32950106
64BCOR_27268052_Chip-Seq_Bcells_Human1.29701491
65MYCN_18555785_ChIP-Seq_MESCs_Mouse1.27240316
66ERG_21242973_ChIP-ChIP_JURKAT_Human1.26728204
67CTCF_20526341_ChIP-Seq_ESCs_Human1.23976698
68MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.22089692
69MYC_22102868_ChIP-Seq_BL_Human1.21348482
70SALL1_21062744_ChIP-ChIP_HESCs_Human1.21175508
71NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.16191874
72ZFP281_18757296_ChIP-ChIP_E14_Mouse1.15345756
73SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.13829256
74TET1_21451524_ChIP-Seq_MESCs_Mouse1.13056436
75FOXM1_23109430_ChIP-Seq_U2OS_Human1.12755014
76CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.12740199
77SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.12580433
78KDM5A_27292631_Chip-Seq_BREAST_Human1.12531620
79GABP_19822575_ChIP-Seq_HepG2_Human1.12478592
80SOX2_18555785_ChIP-Seq_MESCs_Mouse1.12100587
81ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.06632950
82ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.05966091
83CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05951657
84SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.05942818
85NANOG_16153702_ChIP-ChIP_HESCs_Human1.04319913
86PHF8_20622854_ChIP-Seq_HELA_Human1.03990650
87LXR_22292898_ChIP-Seq_THP-1_Human1.03863121
88P68_20966046_ChIP-Seq_HELA_Human1.03567795
89SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.02510786
90NANOG_21062744_ChIP-ChIP_HESCs_Human0.99281927
91YY1_22570637_ChIP-Seq_MALME-3M_Human0.98360471
92CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97164237
93NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.95798653
94FOXP3_21729870_ChIP-Seq_TREG_Human0.95429904
95GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.95421538
96ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95032584
97CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.92384914
98TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.92208902
99STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.91770967
100SMC4_20622854_ChIP-Seq_HELA_Human0.90615424

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003890_abnormal_embryonic-extraembry4.60455204
2MP0004957_abnormal_blastocyst_morpholog4.00225663
3MP0003718_maternal_effect3.51053346
4MP0004233_abnormal_muscle_weight3.37013559
5MP0004133_heterotaxia3.24370542
6MP0002254_reproductive_system_inflammat3.19215993
7MP0000537_abnormal_urethra_morphology3.14841512
8MP0003806_abnormal_nucleotide_metabolis3.11105577
9MP0005257_abnormal_intraocular_pressure3.04302728
10MP0003693_abnormal_embryo_hatching2.97291730
11MP0000566_synostosis2.67561115
12MP0008260_abnormal_autophagy2.53405046
13MP0001672_abnormal_embryogenesis/_devel2.38513297
14MP0005380_embryogenesis_phenotype2.38513297
15MP0001730_embryonic_growth_arrest2.31181722
16MP0002084_abnormal_developmental_patter2.17346203
17MP0003111_abnormal_nucleus_morphology2.17068808
18MP0002796_impaired_skin_barrier2.12697006
19MP0003183_abnormal_peptide_metabolism2.11037676
20MP0003077_abnormal_cell_cycle2.07214728
21MP0002822_catalepsy2.00380636
22MP0005451_abnormal_body_composition1.96708403
23MP0003984_embryonic_growth_retardation1.94432010
24MP0002085_abnormal_embryonic_tissue1.91594220
25MP0009780_abnormal_chondrocyte_physiolo1.90059822
26MP0002088_abnormal_embryonic_growth/wei1.87230420
27MP0002086_abnormal_extraembryonic_tissu1.80656500
28MP0004264_abnormal_extraembryonic_tissu1.80532501
29MP0003119_abnormal_digestive_system1.70867486
30MP0006035_abnormal_mitochondrial_morpho1.69758096
31MP0009840_abnormal_foam_cell1.68669819
32MP0001346_abnormal_lacrimal_gland1.63340188
33MP0008932_abnormal_embryonic_tissue1.62956126
34MP0002080_prenatal_lethality1.62327675
35MP0000470_abnormal_stomach_morphology1.58031003
36MP0003186_abnormal_redox_activity1.55875413
37MP0000462_abnormal_digestive_system1.52938237
38MP0010094_abnormal_chromosome_stability1.51350331
39MP0002909_abnormal_adrenal_gland1.47349429
40MP0000428_abnormal_craniofacial_morphol1.47233898
41MP0008961_abnormal_basal_metabolism1.44187294
42MP0001697_abnormal_embryo_size1.42659821
43MP0000350_abnormal_cell_proliferation1.40155046
44MP0002089_abnormal_postnatal_growth/wei1.32801161
45MP0003699_abnormal_female_reproductive1.31945164
46MP0004858_abnormal_nervous_system1.31860729
47MP0010030_abnormal_orbit_morphology1.29356238
48MP0005076_abnormal_cell_differentiation1.26412700
49MP0005501_abnormal_skin_physiology1.25091807
50MP0003567_abnormal_fetal_cardiomyocyte1.23081068
51MP0005058_abnormal_lysosome_morphology1.22757224
52MP0008004_abnormal_stomach_pH1.21458744
53MP0009333_abnormal_splenocyte_physiolog1.20373144
54MP0005670_abnormal_white_adipose1.18125738
55MP0008058_abnormal_DNA_repair1.15501969
56MP0003453_abnormal_keratinocyte_physiol1.10423876
57MP0005395_other_phenotype1.07333321
58MP0005623_abnormal_meninges_morphology1.03339356
59MP0002210_abnormal_sex_determination1.02879850
60MP0003787_abnormal_imprinting1.00367655
61MP0002697_abnormal_eye_size0.99983555
62MP0000358_abnormal_cell_content/0.98984670
63MP0008872_abnormal_physiological_respon0.98954400
64MP0008874_decreased_physiological_sensi0.94988482
65MP0008770_decreased_survivor_rate0.94493171
66MP0008057_abnormal_DNA_replication0.91673582
67MP0002111_abnormal_tail_morphology0.90665377
68MP0002098_abnormal_vibrissa_morphology0.89467370
69MP0001348_abnormal_lacrimal_gland0.89330486
70MP0003861_abnormal_nervous_system0.88438133
71MP0003646_muscle_fatigue0.87784617
72MP0003329_amyloid_beta_deposits0.87180488
73MP0005499_abnormal_olfactory_system0.86277180
74MP0005394_taste/olfaction_phenotype0.86277180
75MP0003937_abnormal_limbs/digits/tail_de0.86068127
76MP0003950_abnormal_plasma_membrane0.83726314
77MP0004185_abnormal_adipocyte_glucose0.81397248
78MP0003191_abnormal_cellular_cholesterol0.81339359
79MP0002161_abnormal_fertility/fecundity0.80386780
80MP0000750_abnormal_muscle_regeneration0.79871846
81MP0002269_muscular_atrophy0.78657188
82MP0004272_abnormal_basement_membrane0.78649379
83MP0003136_yellow_coat_color0.76585141
84MP0000313_abnormal_cell_death0.74602498
85MP0005023_abnormal_wound_healing0.73335923
86MP0003935_abnormal_craniofacial_develop0.73052263
87MP0009672_abnormal_birth_weight0.72041662
88MP0010630_abnormal_cardiac_muscle0.71429862
89MP0001929_abnormal_gametogenesis0.71150134
90MP0002169_no_abnormal_phenotype0.70357103
91MP0002160_abnormal_reproductive_system0.70230108
92MP0002873_normal_phenotype0.69740451
93MP0010234_abnormal_vibrissa_follicle0.67871916
94MP0001849_ear_inflammation0.67022555
95MP0001145_abnormal_male_reproductive0.65938105
96MP0005379_endocrine/exocrine_gland_phen0.65915763
97MP0000647_abnormal_sebaceous_gland0.65909020
98MP0005377_hearing/vestibular/ear_phenot0.63339167
99MP0003878_abnormal_ear_physiology0.63339167
100MP0005384_cellular_phenotype0.63165483

Predicted human phenotypes

RankGene SetZ-score
1Fused cervical vertebrae (HP:0002949)6.14956314
2Abnormality of abdominal situs (HP:0011620)5.85300846
3Abdominal situs inversus (HP:0003363)5.85300846
4Bilateral microphthalmos (HP:0007633)5.32901379
5Aplasia/Hypoplasia of the fovea (HP:0008060)4.76660213
6Hypoplasia of the fovea (HP:0007750)4.76660213
7Hyperglycinuria (HP:0003108)4.62777550
8Amelogenesis imperfecta (HP:0000705)4.32370921
9Transposition of the great arteries (HP:0001669)3.93189602
10Abnormal connection of the cardiac segments (HP:0011545)3.93189602
11Abnormal ventriculo-arterial connection (HP:0011563)3.93189602
12Abnormality of the fovea (HP:0000493)3.69846633
13Aplasia/Hypoplasia of the macula (HP:0008059)3.65290422
14Aplasia/Hypoplasia affecting the retina (HP:0008061)3.35220791
15Impulsivity (HP:0100710)3.35140628
16Asplenia (HP:0001746)3.33406934
17Hyperglycinemia (HP:0002154)3.32436499
18Premature ovarian failure (HP:0008209)3.31935652
19Abnormality of glycine metabolism (HP:0010895)3.22177141
20Abnormality of serine family amino acid metabolism (HP:0010894)3.22177141
21Progressive muscle weakness (HP:0003323)3.14921211
22Aplasia/Hypoplasia of the spleen (HP:0010451)3.14227196
23Delayed epiphyseal ossification (HP:0002663)2.97021324
24Absent radius (HP:0003974)2.88547238
25Myopathic facies (HP:0002058)2.81798665
26Abnormality of cells of the erythroid lineage (HP:0012130)2.81683980
27Abnormality of pyrimidine metabolism (HP:0004353)2.80281738
28Abnormal number of erythroid precursors (HP:0012131)2.73175760
29Osteomalacia (HP:0002749)2.72750987
30Aplasia involving forearm bones (HP:0009822)2.72177324
31Absent forearm bone (HP:0003953)2.72177324
32Metaphyseal cupping (HP:0003021)2.67062353
33Progressive visual loss (HP:0000529)2.66839038
34Vertebral fusion (HP:0002948)2.60064203
35Split foot (HP:0001839)2.58317538
36Abnormality of monocarboxylic acid metabolism (HP:0010996)2.53421274
37Exercise-induced myalgia (HP:0003738)2.52265096
38Death in infancy (HP:0001522)2.50258600
39Abnormality of the salivary glands (HP:0010286)2.41953923
40Abnormality of proline metabolism (HP:0010907)2.41787768
41Hydroxyprolinuria (HP:0003080)2.41787768
42Thrombocytosis (HP:0001894)2.33516899
43Reticulocytopenia (HP:0001896)2.29367381
44Multiple enchondromatosis (HP:0005701)2.29304679
45Ectopic anus (HP:0004397)2.25132469
46Tongue fasciculations (HP:0001308)2.21918919
47Carpal bone hypoplasia (HP:0001498)2.17886779
48Gastrointestinal stroma tumor (HP:0100723)2.17229497
49Muscle fibrillation (HP:0010546)2.16951089
50Abnormality of the vocal cords (HP:0008777)2.16797912
51Trismus (HP:0000211)2.16534190
52Abnormal tarsal ossification (HP:0008369)2.16451978
53Microvesicular hepatic steatosis (HP:0001414)2.13527430
54Dysmetric saccades (HP:0000641)2.09410394
55Choanal stenosis (HP:0000452)2.05970266
56Duplication of thumb phalanx (HP:0009942)2.05554149
57Abnormality of dental color (HP:0011073)2.03499729
58Abnormality of the labia minora (HP:0012880)2.02738765
59Gout (HP:0001997)2.01913329
60Persistence of primary teeth (HP:0006335)1.99387033
61Partial duplication of thumb phalanx (HP:0009944)1.94653356
62Cerebral hypomyelination (HP:0006808)1.92980848
63Birth length less than 3rd percentile (HP:0003561)1.92010281
64Long palpebral fissure (HP:0000637)1.90407211
65Malnutrition (HP:0004395)1.87560693
66Abnormality of calcium-phosphate metabolism (HP:0100530)1.86769729
67Hypergonadotropic hypogonadism (HP:0000815)1.86191344
68Visceral angiomatosis (HP:0100761)1.84791956
69Methylmalonic aciduria (HP:0012120)1.83802467
70Abnormality of the fetal cardiovascular system (HP:0010948)1.82497642
71Abnormal umbilical cord blood vessels (HP:0011403)1.82497642
72Single umbilical artery (HP:0001195)1.82497642
73Stenosis of the external auditory canal (HP:0000402)1.81909586
74Partial duplication of the phalanx of hand (HP:0009999)1.81169267
75Horseshoe kidney (HP:0000085)1.80278909
76Aplasia/Hypoplasia of the sacrum (HP:0008517)1.77671305
77Hypokinesia (HP:0002375)1.77018634
78Aplasia involving bones of the extremities (HP:0009825)1.76623430
79Aplasia involving bones of the upper limbs (HP:0009823)1.76623430
80Aplasia of the phalanges of the hand (HP:0009802)1.76623430
81Breast hypoplasia (HP:0003187)1.72565382
82Hypoplasia of the radius (HP:0002984)1.72401027
83Lymphangioma (HP:0100764)1.70280867
84External ophthalmoplegia (HP:0000544)1.70092312
85Chromosomal breakage induced by crosslinking agents (HP:0003221)1.69819423
86Abnormality of the middle phalanges of the toes (HP:0010183)1.68540651
87Ankle clonus (HP:0011448)1.68507228
88Nasolacrimal duct obstruction (HP:0000579)1.67434223
89Limb dystonia (HP:0002451)1.66743040
90High anterior hairline (HP:0009890)1.66367645
91Hemangiomatosis (HP:0007461)1.65116072
92Clitoromegaly (HP:0000057)1.64892692
93Renal agenesis (HP:0000104)1.63808792
94Synostosis of carpal bones (HP:0005048)1.63646385
95Posterior subcapsular cataract (HP:0007787)1.62264539
96Tinnitus (HP:0000360)1.61718767
97Turricephaly (HP:0000262)1.61512988
98Thickened helices (HP:0000391)1.60885608
99Ureteral duplication (HP:0000073)1.60488044
100Renal tubular acidosis (HP:0001947)1.60485515

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK7.85383525
2LMTK27.62201845
3PHKG15.29299818
4PHKG25.29299818
5SMG13.57833124
6EEF2K2.65298373
7PLK42.35242638
8PDK22.29265770
9TESK21.83955955
10ICK1.78293024
11STK41.73507556
12BMX1.67914986
13VRK21.49384497
14NME11.37757345
15LATS21.34595778
16TTK1.29407672
17WNK41.25944430
18PRPF4B1.25489984
19STK161.21587142
20PRKG21.15997702
21STK391.13760915
22SRPK11.05138980
23MST41.01963534
24OXSR11.00248876
25PAK40.98721141
26PASK0.96056868
27MAP3K90.93225797
28CHEK20.91388440
29BUB10.86240369
30NME20.85711687
31MAP3K140.85450198
32AURKA0.84485926
33CDK120.80364005
34PIM10.80301465
35CDK190.74536923
36PINK10.74018513
37MAP3K80.73469410
38CSF1R0.72546060
39AKT20.68141008
40FGFR40.66833806
41STK100.65107812
42FGFR20.61974404
43KDR0.60179245
44PRKD30.59296543
45CHEK10.58657021
46RPS6KA20.54451722
47MAP3K60.53240693
48PLK10.52544933
49CDK70.52486262
50LATS10.52383151
51PAK10.50734118
52MAP2K20.49580392
53TAOK20.48556366
54DMPK0.45798062
55TSSK60.45380111
56MTOR0.45025017
57PRKCI0.43809844
58KSR20.43261763
59RPS6KC10.43008928
60RPS6KL10.43008928
61ZAK0.40042674
62CDK20.39897692
63MELK0.38981901
64RPS6KB20.38821931
65RPS6KA10.38336516
66PRKAA20.36532750
67AURKB0.35451963
68PLK30.34527129
69ATM0.33074373
70CHUK0.33067718
71RPS6KA60.32594495
72BRAF0.32413253
73CDK40.30740213
74CDC70.30542660
75PRKAA10.27035368
76CDK10.26975505
77STK30.25977148
78ATR0.25670319
79RPS6KB10.25584995
80ARAF0.24855910
81PAK60.23574829
82ROCK20.23496260
83GSK3B0.22554093
84CSNK1E0.20198581
85NEK10.20068880
86CSNK2A10.19166307
87STK38L0.18921773
88DAPK30.18799273
89CAMK40.18632603
90PRKCZ0.18602358
91TRIM280.18192928
92WEE10.16798458
93LRRK20.16747017
94NTRK30.16426130
95PRKDC0.16419662
96MAP3K10.15690849
97MAPK110.15628155
98NEK20.15623949
99RIPK10.14369543
100CSNK1A10.13311043

Predicted pathways (KEGG)

RankGene SetZ-score
1Folate biosynthesis_Homo sapiens_hsa007908.87352771
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.84290509
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.46694272
4Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.00174557
5Cyanoamino acid metabolism_Homo sapiens_hsa004602.65299868
6Ribosome_Homo sapiens_hsa030102.45775297
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.22140174
8Selenocompound metabolism_Homo sapiens_hsa004502.00059001
9DNA replication_Homo sapiens_hsa030301.96213683
10Pentose phosphate pathway_Homo sapiens_hsa000301.86912075
11Biosynthesis of amino acids_Homo sapiens_hsa012301.77257981
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.77087583
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.76226617
14Base excision repair_Homo sapiens_hsa034101.72804627
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.67279471
16Carbon metabolism_Homo sapiens_hsa012001.58255060
17Basal transcription factors_Homo sapiens_hsa030221.53872228
18RNA transport_Homo sapiens_hsa030131.53496509
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.43281255
20Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.38142103
21One carbon pool by folate_Homo sapiens_hsa006701.37721269
22Spliceosome_Homo sapiens_hsa030401.37498518
23Homologous recombination_Homo sapiens_hsa034401.33793792
24mRNA surveillance pathway_Homo sapiens_hsa030151.25368451
25Regulation of autophagy_Homo sapiens_hsa041401.21901595
26Mismatch repair_Homo sapiens_hsa034301.15792072
27Melanoma_Homo sapiens_hsa052181.11905400
28Oxidative phosphorylation_Homo sapiens_hsa001901.11486743
29Sulfur relay system_Homo sapiens_hsa041221.02971478
30Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.02884038
31Huntingtons disease_Homo sapiens_hsa050161.01995679
32Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.00047653
33N-Glycan biosynthesis_Homo sapiens_hsa005100.99379029
34Galactose metabolism_Homo sapiens_hsa000520.96571610
35Fructose and mannose metabolism_Homo sapiens_hsa000510.95447019
36Basal cell carcinoma_Homo sapiens_hsa052170.94375149
37Collecting duct acid secretion_Homo sapiens_hsa049660.93683108
38Cell cycle_Homo sapiens_hsa041100.93245147
39Central carbon metabolism in cancer_Homo sapiens_hsa052300.91936312
40Arginine and proline metabolism_Homo sapiens_hsa003300.90951795
41Cysteine and methionine metabolism_Homo sapiens_hsa002700.89661688
42Parkinsons disease_Homo sapiens_hsa050120.87844515
43Vibrio cholerae infection_Homo sapiens_hsa051100.87044882
44RNA polymerase_Homo sapiens_hsa030200.77860109
45Pyrimidine metabolism_Homo sapiens_hsa002400.77652057
46Hippo signaling pathway_Homo sapiens_hsa043900.74734691
47Proteasome_Homo sapiens_hsa030500.74633922
48Fanconi anemia pathway_Homo sapiens_hsa034600.73253037
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.73185790
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.71918872
51Mineral absorption_Homo sapiens_hsa049780.69805873
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68264677
53RNA degradation_Homo sapiens_hsa030180.66206440
54Tight junction_Homo sapiens_hsa045300.65722756
55Pyruvate metabolism_Homo sapiens_hsa006200.65450556
56Hedgehog signaling pathway_Homo sapiens_hsa043400.65268654
57Glucagon signaling pathway_Homo sapiens_hsa049220.64853747
58Nucleotide excision repair_Homo sapiens_hsa034200.64644811
59Insulin signaling pathway_Homo sapiens_hsa049100.64148912
60Glutathione metabolism_Homo sapiens_hsa004800.60871354
61Steroid biosynthesis_Homo sapiens_hsa001000.59987241
62Vitamin digestion and absorption_Homo sapiens_hsa049770.59874581
63Arginine biosynthesis_Homo sapiens_hsa002200.58430384
64Metabolic pathways_Homo sapiens_hsa011000.56663374
65TGF-beta signaling pathway_Homo sapiens_hsa043500.56657519
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55390286
67p53 signaling pathway_Homo sapiens_hsa041150.53956914
68Non-homologous end-joining_Homo sapiens_hsa034500.52258158
69Vitamin B6 metabolism_Homo sapiens_hsa007500.50591398
70Cardiac muscle contraction_Homo sapiens_hsa042600.49868536
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48852290
72Fatty acid biosynthesis_Homo sapiens_hsa000610.47135789
73Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46218037
74Synaptic vesicle cycle_Homo sapiens_hsa047210.45757646
75Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.40963164
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.39478919
77Fatty acid elongation_Homo sapiens_hsa000620.37335167
78Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34679677
79Wnt signaling pathway_Homo sapiens_hsa043100.34355979
80Oocyte meiosis_Homo sapiens_hsa041140.32039574
81AMPK signaling pathway_Homo sapiens_hsa041520.29788274
82MicroRNAs in cancer_Homo sapiens_hsa052060.26999880
83Starch and sucrose metabolism_Homo sapiens_hsa005000.26694684
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.26043029
85Rap1 signaling pathway_Homo sapiens_hsa040150.25904690
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.24815211
87Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.23990873
88MAPK signaling pathway_Homo sapiens_hsa040100.23230865
89Alzheimers disease_Homo sapiens_hsa050100.22531907
90Notch signaling pathway_Homo sapiens_hsa043300.21941683
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21387779
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20925867
93Inositol phosphate metabolism_Homo sapiens_hsa005620.20779894
94Pathways in cancer_Homo sapiens_hsa052000.20690382
95Lysine degradation_Homo sapiens_hsa003100.18972816
96Phototransduction_Homo sapiens_hsa047440.18526379
97Sphingolipid metabolism_Homo sapiens_hsa006000.16695338
98Fat digestion and absorption_Homo sapiens_hsa049750.15401113
99Apoptosis_Homo sapiens_hsa042100.15172856
100PI3K-Akt signaling pathway_Homo sapiens_hsa041510.14457138

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