NLRP13

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. 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
1oocyte development (GO:0048599)9.21981794
2protein kinase C signaling (GO:0070528)8.79102468
3positive regulation of humoral immune response (GO:0002922)8.18082906
4meiotic cell cycle (GO:0051321)7.72274396
5piRNA metabolic process (GO:0034587)7.69983716
6negative regulation of reproductive process (GO:2000242)7.58317601
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)7.51106469
8negative regulation of retinoic acid receptor signaling pathway (GO:0048387)7.30387042
9reproduction (GO:0000003)6.83894760
10DNA methylation involved in gamete generation (GO:0043046)6.66238241
11positive regulation of histone H3-K4 methylation (GO:0051571)6.61599545
12regulation of histone H3-K9 methylation (GO:0051570)6.52193491
13retinal cone cell development (GO:0046549)6.38239545
14regulation of meiosis I (GO:0060631)6.30621996
15female gamete generation (GO:0007292)6.25511271
16regulation of retinoic acid receptor signaling pathway (GO:0048385)6.24473406
17binding of sperm to zona pellucida (GO:0007339)5.90736560
18citrulline biosynthetic process (GO:0019240)5.77380444
19regulation of steroid hormone secretion (GO:2000831)5.60978512
20negative regulation of histone methylation (GO:0031061)5.54001632
21mitotic chromosome condensation (GO:0007076)5.32807777
22regulation of hypersensitivity (GO:0002883)5.10084335
23glycine transport (GO:0015816)4.99257798
24positive regulation of reproductive process (GO:2000243)4.91104413
25single fertilization (GO:0007338)4.84039808
26fertilization (GO:0009566)4.83605892
27gene silencing by RNA (GO:0031047)4.69093980
28regulation of calcium ion-dependent exocytosis (GO:0017158)4.68814930
29regulation of cell maturation (GO:1903429)4.61918046
30sperm-egg recognition (GO:0035036)4.55347713
31protein localization to chromosome, centromeric region (GO:0071459)4.45613086
32positive regulation of mitotic metaphase/anaphase transition (GO:0045842)4.43429571
33positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)4.43429571
34positive regulation of mitotic sister chromatid separation (GO:1901970)4.43429571
35protein localization to kinetochore (GO:0034501)4.42050032
36regulation of phospholipid biosynthetic process (GO:0071071)4.39417552
37regulation of reproductive process (GO:2000241)4.16438808
38positive regulation of gastrulation (GO:2000543)4.14574890
39positive regulation of histone methylation (GO:0031062)4.10871150
40regulation of steroid hormone biosynthetic process (GO:0090030)4.03005664
41attachment of spindle microtubules to kinetochore (GO:0008608)4.02761456
42regulation of histone H3-K4 methylation (GO:0051569)4.02424296
43DNA methylation (GO:0006306)4.00106413
44DNA alkylation (GO:0006305)4.00106413
45positive regulation of chromosome segregation (GO:0051984)3.99050952
46positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.98449692
47mitotic metaphase plate congression (GO:0007080)3.88827618
48primitive streak formation (GO:0090009)3.77333164
49centriole replication (GO:0007099)3.71565344
50regulation of histone methylation (GO:0031060)3.68353675
51cell-cell recognition (GO:0009988)3.66959630
52regulation of meiosis (GO:0040020)3.63109485
53positive regulation of uterine smooth muscle contraction (GO:0070474)3.61876384
54establishment of chromosome localization (GO:0051303)3.58631130
55regulation of spindle organization (GO:0090224)3.58311413
56N-terminal protein amino acid acetylation (GO:0006474)3.55764146
57male meiosis I (GO:0007141)3.55627122
58phosphorelay signal transduction system (GO:0000160)3.52669542
59L-amino acid import (GO:0043092)3.46153450
60regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.45648587
61interkinetic nuclear migration (GO:0022027)3.44882169
62stress granule assembly (GO:0034063)3.44311729
63citrulline metabolic process (GO:0000052)3.43504725
64phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.42705352
65gene silencing (GO:0016458)3.34203461
66synapsis (GO:0007129)3.33994946
67negative regulation of histone modification (GO:0031057)3.33890445
68histone H3-K9 demethylation (GO:0033169)3.33116406
69regulation of chromatin silencing (GO:0031935)3.31842714
70negative regulation of hormone biosynthetic process (GO:0032353)3.27420572
71phosphatidylinositol dephosphorylation (GO:0046856)3.26268085
72regulation of G2/M transition of mitotic cell cycle (GO:0010389)3.25067753
73protein localization to chromosome (GO:0034502)3.24146560
74synaptonemal complex assembly (GO:0007130)3.23171947
75regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.21884086
76regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.16012445
77type B pancreatic cell development (GO:0003323)3.15473820
78negative regulation of hormone metabolic process (GO:0032351)3.14385483
79DNA replication checkpoint (GO:0000076)3.13001289
80metaphase plate congression (GO:0051310)3.11215645
81meiosis I (GO:0007127)3.09308744
82regulation of corticosteroid hormone secretion (GO:2000846)3.08680485
83male meiosis (GO:0007140)3.07321045
84positive regulation of hormone biosynthetic process (GO:0046886)3.06830724
85DNA replication-dependent nucleosome assembly (GO:0006335)3.05894979
86DNA replication-dependent nucleosome organization (GO:0034723)3.05894979
87phospholipid dephosphorylation (GO:0046839)3.02659995
88oogenesis (GO:0048477)3.01747544
89regulation of cell cycle G2/M phase transition (GO:1902749)3.01055290
90regulation of meiotic cell cycle (GO:0051445)2.98012836
91regulation of chromatin binding (GO:0035561)2.97977854
92regulation of RNA export from nucleus (GO:0046831)2.97370020
93negative regulation of chromatin modification (GO:1903309)2.95900247
94positive regulation of DNA-dependent DNA replication (GO:2000105)2.94779712
95chromosome organization involved in meiosis (GO:0070192)2.94280515
96chromatin assembly (GO:0031497)2.93979779
97regulation of acrosome reaction (GO:0060046)13.2390279
98regulation of female gonad development (GO:2000194)12.1376000
99multicellular organism reproduction (GO:0032504)10.1517664
100regulation of DNA methylation (GO:0044030)10.1264034

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.14908586
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.67269932
3E2F7_22180533_ChIP-Seq_HELA_Human3.32536843
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.23525050
5KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.69151433
6KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.69151433
7KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.69151433
8FOXM1_23109430_ChIP-Seq_U2OS_Human2.58222775
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.55062320
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.39957478
11NOTCH1_21737748_ChIP-Seq_TLL_Human2.35328428
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.16192518
13EZH2_22144423_ChIP-Seq_EOC_Human17.6718539
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.96786057
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.93029744
16TP63_19390658_ChIP-ChIP_HaCaT_Human1.92117067
17RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.90034492
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.81000547
19GATA1_26923725_Chip-Seq_HPCs_Mouse1.62300406
20HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.56634382
21GBX2_23144817_ChIP-Seq_PC3_Human1.54413000
22AR_21909140_ChIP-Seq_LNCAP_Human1.47283490
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45411790
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.44874622
25SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41219042
26E2F4_17652178_ChIP-ChIP_JURKAT_Human1.28984007
27BP1_19119308_ChIP-ChIP_Hs578T_Human1.23642726
28EP300_21415370_ChIP-Seq_HL-1_Mouse1.18193372
29CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.14758055
30CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12458995
31TCF4_23295773_ChIP-Seq_U87_Human1.06820253
32MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.06786535
33TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02839134
34UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01670278
35PRDM14_20953172_ChIP-Seq_ESCs_Human1.01071441
36TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00558126
37POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00558126
38NANOG_20526341_ChIP-Seq_ESCs_Human0.99120403
39SMAD4_21741376_ChIP-Seq_EPCs_Human0.98825882
40CBP_20019798_ChIP-Seq_JUKART_Human0.97498266
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97498266
42GF1_26923725_Chip-Seq_HPCs_Mouse0.96302340
43TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95600094
44AR_25329375_ChIP-Seq_VCAP_Human0.94817740
45LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94812949
46GATA1_19941827_ChIP-Seq_MEL86_Mouse0.93715098
47GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.91714612
48SMAD4_21799915_ChIP-Seq_A2780_Human0.90328125
49CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89721356
50RUNX2_22187159_ChIP-Seq_PCA_Human0.88412161
51LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87898403
52FOXH1_21741376_ChIP-Seq_EPCs_Human0.86695869
53KLF4_19829295_ChIP-Seq_ESCs_Human0.83800318
54FOXM1_26456572_ChIP-Seq_MCF-7_Human0.77090063
55STAT3_23295773_ChIP-Seq_U87_Human0.76735701
56CBP_21632823_ChIP-Seq_H3396_Human0.76241620
57KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.73759422
58EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.72770193
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.72203829
60TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.71905514
61ZNF274_21170338_ChIP-Seq_K562_Hela0.71316674
62CREB1_15753290_ChIP-ChIP_HEK293T_Human0.70209018
63SMRT_27268052_Chip-Seq_Bcells_Human0.69496397
64SMAD3_21741376_ChIP-Seq_EPCs_Human0.69421370
65OCT4_19829295_ChIP-Seq_ESCs_Human0.68779902
66NR3C1_23031785_ChIP-Seq_PC12_Mouse0.67931252
67AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.67660666
68IRF1_19129219_ChIP-ChIP_H3396_Human0.65629471
69NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.65281971
70PKCTHETA_26484144_Chip-Seq_BREAST_Human0.65250575
71BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.64268218
72EZH2_27304074_Chip-Seq_ESCs_Mouse0.63551615
73SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.63094551
74ESR1_15608294_ChIP-ChIP_MCF-7_Human0.61379865
75NANOG_18555785_ChIP-Seq_MESCs_Mouse0.61374234
76KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.60438731
77AHR_22903824_ChIP-Seq_MCF-7_Human0.60437723
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.60217007
79P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.59970821
80SMAD3_21741376_ChIP-Seq_ESCs_Human0.59685419
81SALL4_22934838_ChIP-ChIP_CD34+_Human0.59680594
82REST_21632747_ChIP-Seq_MESCs_Mouse0.59151832
83STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.58786628
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.58706942
85TAL1_26923725_Chip-Seq_HPCs_Mouse0.58697231
86FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.58635366
87SOX2_21211035_ChIP-Seq_LN229_Gbm0.56737856
88FOXO3_23340844_ChIP-Seq_DLD1_Human0.55970505
89DROSHA_22980978_ChIP-Seq_HELA_Human0.55858564
90CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.55483573
91TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.55184897
92BMI1_23680149_ChIP-Seq_NPCS_Mouse0.54996530
93SALL1_21062744_ChIP-ChIP_HESCs_Human0.54742391
94CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.52963741
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.52226829
96EWS_26573619_Chip-Seq_HEK293_Human0.52183345
97PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.51714908
98HTT_18923047_ChIP-ChIP_STHdh_Human0.51499985
99MYC_18940864_ChIP-ChIP_HL60_Human0.51177125
100E2F1_17053090_ChIP-ChIP_MCF-7_Human0.51043270

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003718_maternal_effect9.10186739
2MP0006292_abnormal_olfactory_placode4.50445101
3MP0008877_abnormal_DNA_methylation4.03754564
4MP0005395_other_phenotype3.69582378
5MP0008789_abnormal_olfactory_epithelium3.60121437
6MP0005394_taste/olfaction_phenotype3.36167012
7MP0005499_abnormal_olfactory_system3.36167012
8MP0008057_abnormal_DNA_replication3.22973676
9MP0002139_abnormal_hepatobiliary_system3.08105181
10MP0003890_abnormal_embryonic-extraembry2.98887071
11MP0003699_abnormal_female_reproductive2.93113998
12MP0003693_abnormal_embryo_hatching2.79527444
13MP0002138_abnormal_hepatobiliary_system2.75193322
14MP0001929_abnormal_gametogenesis2.56926959
15MP0005360_urolithiasis2.48780670
16MP0003879_abnormal_hair_cell2.42546019
17MP0010030_abnormal_orbit_morphology2.24293279
18MP0002210_abnormal_sex_determination2.14483657
19MP0010234_abnormal_vibrissa_follicle2.06590874
20MP0003077_abnormal_cell_cycle1.99850376
21MP0008058_abnormal_DNA_repair1.98562195
22MP0003950_abnormal_plasma_membrane1.95587621
23MP0002234_abnormal_pharynx_morphology1.93944523
24MP0000653_abnormal_sex_gland1.84696828
25MP0002161_abnormal_fertility/fecundity1.84575538
26MP0010094_abnormal_chromosome_stability1.82426279
27MP0003183_abnormal_peptide_metabolism1.82069329
28MP0001119_abnormal_female_reproductive1.77370875
29MP0010307_abnormal_tumor_latency1.75438682
30MP0009840_abnormal_foam_cell1.72967651
31MP0003111_abnormal_nucleus_morphology1.69295188
32MP0010368_abnormal_lymphatic_system1.64709768
33MP0000566_synostosis1.64285188
34MP0005410_abnormal_fertilization1.62793153
35MP0001730_embryonic_growth_arrest1.58810377
36MP0003121_genomic_imprinting1.49717293
37MP0005389_reproductive_system_phenotype1.35218216
38MP0005646_abnormal_pituitary_gland1.28716255
39MP0002160_abnormal_reproductive_system1.28677455
40MP0008932_abnormal_embryonic_tissue1.25474956
41MP0000631_abnormal_neuroendocrine_gland1.22606654
42MP0001293_anophthalmia1.21109488
43MP0001986_abnormal_taste_sensitivity1.19376177
44MP0001145_abnormal_male_reproductive1.18784301
45MP0003252_abnormal_bile_duct1.18259806
46MP0001672_abnormal_embryogenesis/_devel1.15205124
47MP0005380_embryogenesis_phenotype1.15205124
48MP0003136_yellow_coat_color1.14991999
49MP0005647_abnormal_sex_gland1.11560830
50MP0000762_abnormal_tongue_morphology1.06911367
51MP0002233_abnormal_nose_morphology1.05498239
52MP0003698_abnormal_male_reproductive1.04696625
53MP0000427_abnormal_hair_cycle1.01989488
54MP0001919_abnormal_reproductive_system0.93344932
55MP0001664_abnormal_digestion0.93139901
56MP0004142_abnormal_muscle_tone0.92037690
57MP0010678_abnormal_skin_adnexa0.90552642
58MP0002272_abnormal_nervous_system0.90160408
59MP0003119_abnormal_digestive_system0.89601577
60MP0000350_abnormal_cell_proliferation0.88707491
61MP0006276_abnormal_autonomic_nervous0.87137935
62MP0005085_abnormal_gallbladder_physiolo0.84579101
63MP0001666_abnormal_nutrient_absorption0.84424363
64MP0001984_abnormal_olfaction0.81546371
65MP0009379_abnormal_foot_pigmentation0.75965869
66MP0003868_abnormal_feces_composition0.75243414
67MP0004957_abnormal_blastocyst_morpholog0.68202520
68MP0005551_abnormal_eye_electrophysiolog0.67791316
69MP0001324_abnormal_eye_pigmentation0.66592008
70MP0002084_abnormal_developmental_patter0.64851997
71MP0002089_abnormal_postnatal_growth/wei0.64395156
72MP0003959_abnormal_lean_body0.62859625
73MP0002127_abnormal_cardiovascular_syste0.62558296
74MP0000049_abnormal_middle_ear0.62361929
75MP0003941_abnormal_skin_development0.62033703
76MP0001502_abnormal_circadian_rhythm0.61626866
77MP0000678_abnormal_parathyroid_gland0.59681057
78MP0005076_abnormal_cell_differentiation0.56198448
79MP0001963_abnormal_hearing_physiology0.52830179
80MP0000015_abnormal_ear_pigmentation0.52659279
81MP0000733_abnormal_muscle_development0.51506276
82MP0005075_abnormal_melanosome_morpholog0.51214390
83MP0002085_abnormal_embryonic_tissue0.49453819
84MP0005409_darkened_coat_color0.47869559
85MP0003984_embryonic_growth_retardation0.47232296
86MP0001697_abnormal_embryo_size0.46143661
87MP0000383_abnormal_hair_follicle0.45277022
88MP0005501_abnormal_skin_physiology0.44881869
89MP0003935_abnormal_craniofacial_develop0.43300199
90MP0002088_abnormal_embryonic_growth/wei0.42998626
91MP0002796_impaired_skin_barrier0.42961767
92MP0002928_abnormal_bile_duct0.42128820
93MP0004381_abnormal_hair_follicle0.41411448
94MP0002735_abnormal_chemical_nociception0.41171978
95MP0002873_normal_phenotype0.39786384
96MP0003755_abnormal_palate_morphology0.39335353
97MP0002169_no_abnormal_phenotype0.39220034
98MP0005319_abnormal_enzyme/_coenzyme0.38937105
99MP0001881_abnormal_mammary_gland0.37560031
100MP0000428_abnormal_craniofacial_morphol0.36330354

Predicted human phenotypes

RankGene SetZ-score
1Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)6.13449058
2Aplasia/Hypoplasia of the fovea (HP:0008060)5.94130550
3Hypoplasia of the fovea (HP:0007750)5.94130550
4Anterior segment dysgenesis (HP:0007700)5.74148823
5Impulsivity (HP:0100710)5.26116259
6Abnormality of abdominal situs (HP:0011620)5.05376282
7Abdominal situs inversus (HP:0003363)5.05376282
8Male infertility (HP:0003251)5.05069995
9Osteomalacia (HP:0002749)4.93702441
10Abnormality of the fovea (HP:0000493)4.91672591
11Lip pit (HP:0100267)4.83293553
12Papillary thyroid carcinoma (HP:0002895)4.68701530
13Cholecystitis (HP:0001082)4.52774395
14Abnormal gallbladder physiology (HP:0012438)4.52774395
15Supernumerary spleens (HP:0009799)4.38796606
16Infertility (HP:0000789)4.37602399
17Hypophosphatemic rickets (HP:0004912)4.33121385
18Facial hemangioma (HP:0000329)4.27125274
19Premature ovarian failure (HP:0008209)3.86325514
20Aplasia/Hypoplasia of the macula (HP:0008059)3.80917975
21Chromsome breakage (HP:0040012)3.75760830
22Septo-optic dysplasia (HP:0100842)3.71833519
23Chromosomal breakage induced by crosslinking agents (HP:0003221)3.65853566
24Apathy (HP:0000741)3.64644318
25Azoospermia (HP:0000027)3.51881944
26Aplasia/Hypoplasia affecting the retina (HP:0008061)3.49548559
27Diminished motivation (HP:0000745)3.47995117
28Oligodactyly (hands) (HP:0001180)3.42341803
29Malnutrition (HP:0004395)3.36160669
30Hypergonadotropic hypogonadism (HP:0000815)3.25956297
31Hypokinesia (HP:0002375)3.24637284
32Gonadotropin excess (HP:0000837)3.01048395
33Median cleft lip (HP:0000161)2.97185135
34Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.89230688
35Absent septum pellucidum (HP:0001331)2.84624379
36Truncal obesity (HP:0001956)2.81784120
37Secondary amenorrhea (HP:0000869)2.75062312
38Aplasia of the musculature (HP:0100854)2.74782908
39Spinal cord compression (HP:0002176)2.69632700
40Capillary hemangiomas (HP:0005306)2.65742096
41Abnormal spermatogenesis (HP:0008669)2.64224286
42Myokymia (HP:0002411)2.62224276
43Lower limb hyperreflexia (HP:0002395)2.57849727
44Urethral obstruction (HP:0000796)2.56152329
45Thyroid carcinoma (HP:0002890)2.55261028
46Oligodactyly (HP:0012165)2.55096351
47Loss of speech (HP:0002371)2.52383953
48Short tibia (HP:0005736)2.48802433
49Skin pits (HP:0100276)2.47622904
50Metaphyseal irregularity (HP:0003025)2.46320590
51Abnormality of the anterior chamber (HP:0000593)2.44004145
52Abnormality of the labia minora (HP:0012880)2.42787202
53Abnormality of the septum pellucidum (HP:0007375)2.41952237
54Conjunctival telangiectasia (HP:0000524)2.37029496
55Anhidrosis (HP:0000970)2.36135051
56Striae distensae (HP:0001065)2.29178580
57Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.27267017
58Muscle stiffness (HP:0003552)2.24892657
59Aplasia/Hypoplasia of the tibia (HP:0005772)2.22241449
60Posterior subcapsular cataract (HP:0007787)2.20895202
61Subcapsular cataract (HP:0000523)2.20559642
62Dysdiadochokinesis (HP:0002075)2.19548870
63Congenital sensorineural hearing impairment (HP:0008527)2.13246836
64Intrahepatic cholestasis (HP:0001406)2.12052772
65Bundle branch block (HP:0011710)2.11349443
66Increased circulating renin level (HP:0000848)2.10142898
67Proximal tubulopathy (HP:0000114)2.04512627
68Pulmonary fibrosis (HP:0002206)2.04169575
69Enlarged penis (HP:0000040)2.01471470
70Fair hair (HP:0002286)1.99035733
71Aplasia/Hypoplasia of the tongue (HP:0010295)1.98375262
72Maternal diabetes (HP:0009800)1.97684310
73Aplasia/Hypoplasia of the uvula (HP:0010293)1.97280623
74Abnormality of monocarboxylic acid metabolism (HP:0010996)1.96907649
75Wrist flexion contracture (HP:0001239)1.96583014
76Hypercortisolism (HP:0001578)1.95958121
77Nephroblastoma (Wilms tumor) (HP:0002667)1.90924624
78Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.87710789
79Abnormality of chromosome stability (HP:0003220)1.87515236
80Cone-rod dystrophy (HP:0000548)1.87482979
81Bile duct proliferation (HP:0001408)1.87255599
82Abnormal biliary tract physiology (HP:0012439)1.87255599
83Abnormal ciliary motility (HP:0012262)1.85255202
84Generalized aminoaciduria (HP:0002909)1.84362454
85Abnormality of the vasculature of the conjunctiva (HP:0008054)1.80983165
86Abnormality of the preputium (HP:0100587)1.80055654
87Supranuclear gaze palsy (HP:0000605)1.79738457
88Embryonal renal neoplasm (HP:0011794)1.79693467
89Meckel diverticulum (HP:0002245)1.79293230
90Heterotopia (HP:0002282)1.78263384
91Sensory axonal neuropathy (HP:0003390)1.76747631
92Duodenal stenosis (HP:0100867)1.76577120
93Small intestinal stenosis (HP:0012848)1.76577120
94Neurofibrillary tangles (HP:0002185)1.76085191
95Abnormality of calcium-phosphate metabolism (HP:0100530)1.74880014
96Decreased circulating renin level (HP:0003351)1.72861776
97Abnormality of the ileum (HP:0001549)1.70114625
98Hydroureter (HP:0000072)1.69445867
99Abnormal lung lobation (HP:0002101)1.68434079
100Aplasia/Hypoplasia involving the musculature (HP:0001460)1.68312353

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K96.04161655
2MAP3K135.37751244
3ARAF5.28469401
4CDK124.26053698
5NEK63.23884692
6TAOK33.14550320
7TTK2.97519260
8STK242.80670629
9BRAF2.60843525
10AURKA2.50708450
11MOS2.31300275
12CDK92.17817161
13MET2.16743661
14CDC72.01008133
15NTRK21.86776339
16KSR21.74916040
17MELK1.74211966
18TRIM281.72203145
19RAF11.63330904
20PRKCI1.57702212
21CDK71.47527686
22PLK11.37220600
23TNIK1.36286999
24BUB11.34345264
25BRSK11.33349658
26STK31.29740788
27EIF2AK31.17431975
28CAMK1D1.17374454
29PTK21.16144711
30CHEK11.08372016
31KSR11.06526571
32WNK11.05347155
33NEK20.95223530
34MAP3K80.93043342
35PIM10.92792872
36TGFBR10.83529526
37MARK30.80988477
38CDK20.80207816
39TNK20.79107353
40CDK190.78908706
41ZAK0.78784933
42AURKB0.76652774
43MTOR0.76516203
44CSNK1G10.75919112
45CDK80.74385599
46BRD40.73976364
47MST40.73340227
48EEF2K0.71926261
49CAMK1G0.71794229
50CHEK20.67854956
51MAPKAPK30.67460566
52ATM0.66972282
53PLK30.62057378
54BMPR1B0.60619408
55CSNK1D0.59938926
56PAK10.59567655
57NTRK30.58852963
58DMPK0.56298242
59CDK10.56095080
60NUAK10.54573788
61LATS20.53450422
62PRKCZ0.52517388
63TIE10.52398747
64BRSK20.51793436
65PRKG10.48691563
66CSNK1E0.46871351
67CSNK1G30.46139684
68LATS10.46129091
69LRRK20.44870374
70PKN10.43288141
71STK390.42765838
72TESK20.42664899
73ATR0.40558770
74MAPK130.40465505
75MAP3K50.38484063
76NEK90.38475779
77CDK50.38179151
78SRPK10.38089995
79PDK10.34973674
80GSK3B0.34637485
81CSNK1A1L0.34172610
82MAPK110.32019731
83MAPK100.29892289
84MAPK10.29698151
85PRKACB0.29375263
86TLK10.26315018
87PRKD30.26035003
88NME10.25991377
89ACVR1B0.25833149
90AKT20.25771388
91MARK20.24228682
92PRKACA0.24177018
93CAMK2A0.24140594
94CSNK1G20.23514400
95CHUK0.22966547
96PBK0.22523037
97CAMK40.22509732
98CDC42BPA0.22021849
99PDPK10.21775618
100PRKAA20.20480672

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030225.25922864
2Ovarian steroidogenesis_Homo sapiens_hsa049134.69077959
3Cell cycle_Homo sapiens_hsa041104.34991534
4Oocyte meiosis_Homo sapiens_hsa041143.28832452
5Mismatch repair_Homo sapiens_hsa034303.25933025
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.16922058
7Dorso-ventral axis formation_Homo sapiens_hsa043202.92019439
8Progesterone-mediated oocyte maturation_Homo sapiens_hsa049142.78307199
9Base excision repair_Homo sapiens_hsa034102.54550524
10RNA degradation_Homo sapiens_hsa030182.44755499
11Caffeine metabolism_Homo sapiens_hsa002322.41293779
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.40236105
13Cysteine and methionine metabolism_Homo sapiens_hsa002702.13101818
14DNA replication_Homo sapiens_hsa030302.07582334
15Fanconi anemia pathway_Homo sapiens_hsa034602.04052864
16Nucleotide excision repair_Homo sapiens_hsa034202.00298070
17RNA transport_Homo sapiens_hsa030131.94995657
18p53 signaling pathway_Homo sapiens_hsa041151.88011079
19Homologous recombination_Homo sapiens_hsa034401.84754083
20Gap junction_Homo sapiens_hsa045401.82960790
21Circadian rhythm_Homo sapiens_hsa047101.81793627
22Olfactory transduction_Homo sapiens_hsa047401.71677002
23Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.68326436
24Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.59411274
25Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.52645409
26mRNA surveillance pathway_Homo sapiens_hsa030151.48776564
27Thyroid cancer_Homo sapiens_hsa052161.45355137
28Inositol phosphate metabolism_Homo sapiens_hsa005621.44070952
29Phototransduction_Homo sapiens_hsa047441.31072784
30RNA polymerase_Homo sapiens_hsa030201.22372461
31Folate biosynthesis_Homo sapiens_hsa007901.20406747
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18719301
33ABC transporters_Homo sapiens_hsa020101.15919932
34mTOR signaling pathway_Homo sapiens_hsa041500.99623070
35TGF-beta signaling pathway_Homo sapiens_hsa043500.97480608
36Taste transduction_Homo sapiens_hsa047420.94241291
37Bile secretion_Homo sapiens_hsa049760.93570998
38GABAergic synapse_Homo sapiens_hsa047270.89295726
39Nicotine addiction_Homo sapiens_hsa050330.88771060
40Morphine addiction_Homo sapiens_hsa050320.83793205
41Thyroid hormone signaling pathway_Homo sapiens_hsa049190.83338288
42MicroRNAs in cancer_Homo sapiens_hsa052060.77839032
43FoxO signaling pathway_Homo sapiens_hsa040680.75491443
44Adherens junction_Homo sapiens_hsa045200.72792654
45Lysine degradation_Homo sapiens_hsa003100.72296306
46SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65296800
47Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60961948
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.55196909
49Fatty acid elongation_Homo sapiens_hsa000620.53341409
50Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.52812458
51Herpes simplex infection_Homo sapiens_hsa051680.52272947
52Serotonergic synapse_Homo sapiens_hsa047260.51990682
53Long-term depression_Homo sapiens_hsa047300.51905653
54Purine metabolism_Homo sapiens_hsa002300.50366135
55Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49975169
56Notch signaling pathway_Homo sapiens_hsa043300.49624508
57Wnt signaling pathway_Homo sapiens_hsa043100.47236002
58Viral carcinogenesis_Homo sapiens_hsa052030.47147347
59Synaptic vesicle cycle_Homo sapiens_hsa047210.43384689
60Regulation of autophagy_Homo sapiens_hsa041400.41694913
61Hippo signaling pathway_Homo sapiens_hsa043900.37204690
62Small cell lung cancer_Homo sapiens_hsa052220.35627173
63ErbB signaling pathway_Homo sapiens_hsa040120.35260628
64Glycosaminoglycan degradation_Homo sapiens_hsa005310.33973716
65Vitamin digestion and absorption_Homo sapiens_hsa049770.31878000
66Arginine biosynthesis_Homo sapiens_hsa002200.30503428
67Ras signaling pathway_Homo sapiens_hsa040140.28968814
68Endometrial cancer_Homo sapiens_hsa052130.28178352
69cAMP signaling pathway_Homo sapiens_hsa040240.26110407
70Protein digestion and absorption_Homo sapiens_hsa049740.26056173
71Phagosome_Homo sapiens_hsa041450.23276826
72Huntingtons disease_Homo sapiens_hsa050160.22482368
73Arginine and proline metabolism_Homo sapiens_hsa003300.22082992
74Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.21968022
75Renal cell carcinoma_Homo sapiens_hsa052110.21183519
76HTLV-I infection_Homo sapiens_hsa051660.20884477
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.20219883
78HIF-1 signaling pathway_Homo sapiens_hsa040660.19424829
79Cholinergic synapse_Homo sapiens_hsa047250.19409754
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.19198250
81Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.19174261
82cGMP-PKG signaling pathway_Homo sapiens_hsa040220.18695742
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.18443741
84Influenza A_Homo sapiens_hsa051640.18170558
85Prostate cancer_Homo sapiens_hsa052150.17361179
86Oxytocin signaling pathway_Homo sapiens_hsa049210.17234325
87Long-term potentiation_Homo sapiens_hsa047200.16990067
88Circadian entrainment_Homo sapiens_hsa047130.14741490
89Spliceosome_Homo sapiens_hsa030400.13536861
90PI3K-Akt signaling pathway_Homo sapiens_hsa041510.12744784
91Amoebiasis_Homo sapiens_hsa051460.12255836
92Hepatitis B_Homo sapiens_hsa051610.12181747
93Insulin secretion_Homo sapiens_hsa049110.11226098
94Calcium signaling pathway_Homo sapiens_hsa040200.10684703
95Insulin signaling pathway_Homo sapiens_hsa049100.09943408
96Melanogenesis_Homo sapiens_hsa049160.09694400
97Tight junction_Homo sapiens_hsa045300.09618087
98Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.09506374
99Glutamatergic synapse_Homo sapiens_hsa047240.08878664
100Maturity onset diabetes of the young_Homo sapiens_hsa049500.08522452

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