SIAH1

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 protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of retinoic acid receptor signaling pathway (GO:0048387)9.27761254
2regulation of retinoic acid receptor signaling pathway (GO:0048385)7.77839160
3piRNA metabolic process (GO:0034587)7.77163622
4regulation of meiosis I (GO:0060631)6.56684546
5male meiosis I (GO:0007141)6.38166855
6DNA methylation involved in gamete generation (GO:0043046)6.28883426
7male meiosis (GO:0007140)5.78149892
8synapsis (GO:0007129)5.29662427
9meiosis I (GO:0007127)5.02987254
10meiotic nuclear division (GO:0007126)4.12309996
11chromosome organization involved in meiosis (GO:0070192)4.02022282
12positive regulation of meiosis (GO:0045836)3.68313184
13positive regulation of meiotic cell cycle (GO:0051446)3.60385429
14gene silencing by RNA (GO:0031047)3.59037652
15synaptonemal complex assembly (GO:0007130)3.53844184
16histone H3-K36 demethylation (GO:0070544)3.52404033
17regulation of histone H3-K9 methylation (GO:0051570)3.49787328
18interkinetic nuclear migration (GO:0022027)3.42557903
19histone H3-K9 demethylation (GO:0033169)3.41041520
20vitamin transmembrane transport (GO:0035461)3.40489086
21synaptonemal complex organization (GO:0070193)3.40324374
22gonadal mesoderm development (GO:0007506)3.39854990
23meiotic cell cycle process (GO:1903046)3.35727862
24DNA alkylation (GO:0006305)3.35466355
25DNA methylation (GO:0006306)3.35466355
26regulation of DNA methylation (GO:0044030)3.25622589
27estrogen biosynthetic process (GO:0006703)3.21093393
28DNA synthesis involved in DNA repair (GO:0000731)3.17164649
29somite rostral/caudal axis specification (GO:0032525)3.14434649
30spermatid development (GO:0007286)3.09633824
31reciprocal meiotic recombination (GO:0007131)3.05405872
32reciprocal DNA recombination (GO:0035825)3.05405872
33pyrimidine dimer repair (GO:0006290)3.04891042
34ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043163.01978986
35protein K48-linked ubiquitination (GO:0070936)3.01072675
36establishment of protein localization to Golgi (GO:0072600)2.96124436
37female gamete generation (GO:0007292)2.91172727
38meiotic cell cycle (GO:0051321)2.89987914
39pyrimidine-containing compound transmembrane transport (GO:0072531)2.84000385
40neural tube formation (GO:0001841)2.83367573
41DNA methylation or demethylation (GO:0044728)2.83337972
42retrograde transport, vesicle recycling within Golgi (GO:0000301)2.82347309
43cerebral cortex radially oriented cell migration (GO:0021799)2.75906341
44negative regulation of inclusion body assembly (GO:0090084)2.75676576
45protein localization to cilium (GO:0061512)2.74740093
46sister chromatid cohesion (GO:0007062)2.74468048
47somite development (GO:0061053)2.74351475
48acrosome reaction (GO:0007340)2.74331364
49centriole replication (GO:0007099)2.72121686
50peptidyl-lysine methylation (GO:0018022)2.71321793
51autophagic vacuole assembly (GO:0000045)2.71307398
52cerebral cortex neuron differentiation (GO:0021895)2.71291625
53positive regulation of protein homooligomerization (GO:0032464)2.69615380
54folic acid transport (GO:0015884)2.68219083
55histone lysine demethylation (GO:0070076)2.67826515
56pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.66752878
57substrate-independent telencephalic tangential migration (GO:0021826)2.65256706
58substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.65256706
59protein targeting to Golgi (GO:0000042)2.64469902
60peptidyl-lysine trimethylation (GO:0018023)2.64138605
61multicellular organism reproduction (GO:0032504)2.64080675
62glycerophospholipid catabolic process (GO:0046475)2.63078216
63regulation of feeding behavior (GO:0060259)2.62897674
64pyrimidine nucleobase catabolic process (GO:0006208)2.61725540
65histone demethylation (GO:0016577)2.59850645
66DNA double-strand break processing (GO:0000729)2.57860376
67base-excision repair, AP site formation (GO:0006285)2.56990941
68intraciliary transport (GO:0042073)2.55177018
69negative regulation of meiosis (GO:0045835)2.54899399
70resolution of meiotic recombination intermediates (GO:0000712)2.54631672
71embryonic body morphogenesis (GO:0010172)2.51688671
72tachykinin receptor signaling pathway (GO:0007217)2.51174600
73anterograde synaptic vesicle transport (GO:0048490)2.48851078
74histone H3-K4 trimethylation (GO:0080182)2.47930934
75microtubule anchoring (GO:0034453)2.46318974
76paraxial mesoderm development (GO:0048339)2.46314912
77regulation of meiosis (GO:0040020)2.44575546
78regulation of meiotic cell cycle (GO:0051445)2.44486351
79DNA modification (GO:0006304)2.43193358
80gene silencing (GO:0016458)2.42954749
81sex differentiation (GO:0007548)2.42479713
82positive regulation of catecholamine secretion (GO:0033605)2.41821052
83N-terminal protein amino acid acetylation (GO:0006474)2.41595870
84protein localization to Golgi apparatus (GO:0034067)2.40793517
85pyrimidine nucleotide catabolic process (GO:0006244)2.40260341
86seminiferous tubule development (GO:0072520)2.39540081
87behavioral response to nicotine (GO:0035095)2.38800550
88protein dealkylation (GO:0008214)2.38265875
89protein demethylation (GO:0006482)2.38265875
90germ cell development (GO:0007281)2.36744704
91positive regulation of circadian rhythm (GO:0042753)2.36492063
92histone H3-K9 methylation (GO:0051567)2.34358486
93regulation of telomere maintenance (GO:0032204)2.34255638
94regulation of collateral sprouting (GO:0048670)2.32699470
95negative regulation of DNA recombination (GO:0045910)2.30937733
96sympathetic nervous system development (GO:0048485)2.30542432
97regulation of pigment cell differentiation (GO:0050932)2.30390303
98positive regulation of growth hormone secretion (GO:0060124)2.30139037
99RNA localization (GO:0006403)2.30138525
100negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)2.29827086

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.08382468
2EZH2_22144423_ChIP-Seq_EOC_Human3.99500443
3IGF1R_20145208_ChIP-Seq_DFB_Human3.58131444
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.43967186
5GBX2_23144817_ChIP-Seq_PC3_Human2.70691797
6* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.60651141
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.57632284
8TAF15_26573619_Chip-Seq_HEK293_Human2.53177726
9RBPJ_22232070_ChIP-Seq_NCS_Mouse2.31366800
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.27252791
11FUS_26573619_Chip-Seq_HEK293_Human2.19208184
12VDR_22108803_ChIP-Seq_LS180_Human2.15009445
13P300_19829295_ChIP-Seq_ESCs_Human2.11861066
14EWS_26573619_Chip-Seq_HEK293_Human2.05934272
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.02209148
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.01890299
17TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.91636674
18UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.88288873
19CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86366005
20RNF2_27304074_Chip-Seq_NSC_Mouse1.85152448
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.84660702
22NOTCH1_21737748_ChIP-Seq_TLL_Human1.84653068
23TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.81532632
24POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.81532632
25ER_23166858_ChIP-Seq_MCF-7_Human1.80717054
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.80237594
27KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.75940793
28KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.75940793
29KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.75940793
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71439014
31SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.62304121
32CBP_20019798_ChIP-Seq_JUKART_Human1.60885151
33IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.60885151
34RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.59180715
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.59020859
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.55837163
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.55715419
38* STAT3_23295773_ChIP-Seq_U87_Human1.54810439
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.52860391
40TOP2B_26459242_ChIP-Seq_MCF-7_Human1.52797066
41* SMAD4_21799915_ChIP-Seq_A2780_Human1.51297206
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.48679523
43AR_25329375_ChIP-Seq_VCAP_Human1.48542003
44E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.48496893
45RUNX2_22187159_ChIP-Seq_PCA_Human1.46015692
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.43714918
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.42620004
48FLI1_27457419_Chip-Seq_LIVER_Mouse1.42581490
49TP63_19390658_ChIP-ChIP_HaCaT_Human1.42526859
50KLF5_20875108_ChIP-Seq_MESCs_Mouse1.40160218
51HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38916518
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.35954854
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34999381
54TCF4_23295773_ChIP-Seq_U87_Human1.34734368
55HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.33568762
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32799684
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.32787630
58* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.31306971
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30179482
60BCAT_22108803_ChIP-Seq_LS180_Human1.28879478
61TP53_22573176_ChIP-Seq_HFKS_Human1.26824863
62POU5F1_16153702_ChIP-ChIP_HESCs_Human1.23762795
63NR3C1_21868756_ChIP-Seq_MCF10A_Human1.20733509
64HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.18622773
65AR_21572438_ChIP-Seq_LNCaP_Human1.18107775
66TAL1_26923725_Chip-Seq_HPCs_Mouse1.13254830
67REST_21632747_ChIP-Seq_MESCs_Mouse1.12730502
68IRF1_19129219_ChIP-ChIP_H3396_Human1.12346997
69PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12013285
70RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.11706076
71TCF4_22108803_ChIP-Seq_LS180_Human1.08696318
72KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.08400673
73MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07976861
74TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07891158
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07406247
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.07026622
77CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06437091
78SMAD4_21741376_ChIP-Seq_EPCs_Human1.06040730
79NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.03210987
80EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.02631018
81MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01653883
82MYC_18940864_ChIP-ChIP_HL60_Human1.00607724
83NANOG_19829295_ChIP-Seq_ESCs_Human0.99111539
84SOX2_19829295_ChIP-Seq_ESCs_Human0.99111539
85NANOG_18555785_Chip-Seq_ESCs_Mouse0.98900109
86LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97845328
87CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.97556961
88TBL1_22424771_ChIP-Seq_293T_Human0.96404134
89TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95791756
90EZH2_27304074_Chip-Seq_ESCs_Mouse0.94420072
91VDR_23849224_ChIP-Seq_CD4+_Human0.94227949
92STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93136919
93CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.92677259
94CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90964955
95CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90384082
96FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.89824770
97ETV1_20927104_ChIP-Seq_GIST48_Human0.89800617
98FLI1_21867929_ChIP-Seq_TH2_Mouse0.89627879
99TBX3_20139965_ChIP-Seq_ESCs_Mouse0.88825488
100TBX3_20139965_ChIP-Seq_MESCs_Mouse0.88684572

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation5.12193197
2MP0001188_hyperpigmentation3.26423732
3MP0003787_abnormal_imprinting3.08782965
4MP0003890_abnormal_embryonic-extraembry2.82370002
5MP0003136_yellow_coat_color2.76136288
6MP0003121_genomic_imprinting2.53355708
7MP0003122_maternal_imprinting2.27318680
8MP0003195_calcinosis2.21097299
9MP0002210_abnormal_sex_determination2.20596701
10MP0003646_muscle_fatigue2.19311016
11MP0006276_abnormal_autonomic_nervous2.17149381
12MP0003718_maternal_effect2.15455003
13MP0008057_abnormal_DNA_replication2.05851637
14MP0001929_abnormal_gametogenesis2.03870467
15MP0008995_early_reproductive_senescence2.03724654
16MP0002160_abnormal_reproductive_system2.03261711
17MP0008789_abnormal_olfactory_epithelium2.00191583
18MP0005394_taste/olfaction_phenotype1.99886074
19MP0005499_abnormal_olfactory_system1.99886074
20MP0003880_abnormal_central_pattern1.90353769
21MP0001986_abnormal_taste_sensitivity1.87388131
22MP0005423_abnormal_somatic_nervous1.86132346
23MP0003698_abnormal_male_reproductive1.85410312
24MP0006292_abnormal_olfactory_placode1.83424234
25MP0001984_abnormal_olfaction1.82150565
26MP0000778_abnormal_nervous_system1.67666288
27MP0002653_abnormal_ependyma_morphology1.67261398
28MP0003123_paternal_imprinting1.65604693
29MP0002102_abnormal_ear_morphology1.64647540
30MP0000653_abnormal_sex_gland1.61331414
31MP0001145_abnormal_male_reproductive1.60036853
32MP0000569_abnormal_digit_pigmentation1.57101018
33MP0010368_abnormal_lymphatic_system1.45222099
34MP0002638_abnormal_pupillary_reflex1.44509990
35MP0005187_abnormal_penis_morphology1.43753302
36MP0008058_abnormal_DNA_repair1.40571729
37MP0004270_analgesia1.29895224
38MP0005410_abnormal_fertilization1.25452791
39MP0005389_reproductive_system_phenotype1.24672424
40MP0003119_abnormal_digestive_system1.22851150
41MP0000427_abnormal_hair_cycle1.21548515
42MP0001502_abnormal_circadian_rhythm1.19563176
43MP0002751_abnormal_autonomic_nervous1.16751489
44MP0002095_abnormal_skin_pigmentation1.15763632
45MP0003011_delayed_dark_adaptation1.13304605
46MP0003693_abnormal_embryo_hatching1.11422891
47MP0002161_abnormal_fertility/fecundity1.10154744
48MP0005171_absent_coat_pigmentation1.08136209
49MP0002233_abnormal_nose_morphology1.07967031
50MP0004924_abnormal_behavior1.07613960
51MP0005386_behavior/neurological_phenoty1.07613960
52MP0000049_abnormal_middle_ear1.07303430
53MP0004142_abnormal_muscle_tone1.06794980
54MP0000647_abnormal_sebaceous_gland1.06573822
55MP0000631_abnormal_neuroendocrine_gland1.03095813
56MP0000372_irregular_coat_pigmentation1.02590183
57MP0001501_abnormal_sleep_pattern1.00670347
58MP0002272_abnormal_nervous_system0.98732402
59MP0005174_abnormal_tail_pigmentation0.98710074
60MP0005551_abnormal_eye_electrophysiolog0.98206891
61MP0001529_abnormal_vocalization0.98046843
62MP0003635_abnormal_synaptic_transmissio0.97458152
63MP0000383_abnormal_hair_follicle0.96374934
64MP0003567_abnormal_fetal_cardiomyocyte0.95740970
65MP0001486_abnormal_startle_reflex0.93948669
66MP0005253_abnormal_eye_physiology0.93271632
67MP0009745_abnormal_behavioral_response0.92898513
68MP0001119_abnormal_female_reproductive0.92173154
69MP0002138_abnormal_hepatobiliary_system0.91873420
70MP0000955_abnormal_spinal_cord0.90750855
71MP0009046_muscle_twitch0.90258824
72MP0003937_abnormal_limbs/digits/tail_de0.90211345
73MP0003699_abnormal_female_reproductive0.90152242
74MP0003755_abnormal_palate_morphology0.90141490
75MP0004215_abnormal_myocardial_fiber0.88604835
76MP0002837_dystrophic_cardiac_calcinosis0.88076184
77MP0003861_abnormal_nervous_system0.86208982
78MP0002882_abnormal_neuron_morphology0.83507545
79MP0002184_abnormal_innervation0.83273741
80MP0005409_darkened_coat_color0.82897486
81MP0002063_abnormal_learning/memory/cond0.81700798
82MP0005645_abnormal_hypothalamus_physiol0.81325577
83MP0002572_abnormal_emotion/affect_behav0.80881856
84MP0004811_abnormal_neuron_physiology0.80448980
85MP0004233_abnormal_muscle_weight0.80178431
86MP0002084_abnormal_developmental_patter0.79060221
87MP0003935_abnormal_craniofacial_develop0.78332973
88MP0002938_white_spotting0.77743272
89MP0002735_abnormal_chemical_nociception0.77538778
90MP0002557_abnormal_social/conspecific_i0.77191595
91MP0005075_abnormal_melanosome_morpholog0.73790619
92MP0001286_abnormal_eye_development0.73131434
93MP0002067_abnormal_sensory_capabilities0.72039924
94MP0002752_abnormal_somatic_nervous0.70281218
95MP0001293_anophthalmia0.68055150
96MP0005395_other_phenotype0.67466843
97MP0009703_decreased_birth_body0.67319051
98MP0005647_abnormal_sex_gland0.66243892
99MP0004197_abnormal_fetal_growth/weight/0.65853324
100MP0002152_abnormal_brain_morphology0.65845873

Predicted human phenotypes

RankGene SetZ-score
1Papillary thyroid carcinoma (HP:0002895)3.53187912
2Rimmed vacuoles (HP:0003805)3.45760997
3Abnormality of the labia minora (HP:0012880)3.31997783
4Amyotrophic lateral sclerosis (HP:0007354)3.06077510
5Oligodactyly (hands) (HP:0001180)2.94224639
6Type II lissencephaly (HP:0007260)2.93350794
7Retinal dysplasia (HP:0007973)2.92803461
8Degeneration of the lateral corticospinal tracts (HP:0002314)2.90153986
9Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.90153986
10Shoulder girdle muscle weakness (HP:0003547)2.88397041
11Gonadotropin excess (HP:0000837)2.84415014
12Hepatoblastoma (HP:0002884)2.76644419
13Abnormality of the corticospinal tract (HP:0002492)2.67351003
14Lissencephaly (HP:0001339)2.51125151
15Genetic anticipation (HP:0003743)2.50196448
16Esotropia (HP:0000565)2.48254210
17Medial flaring of the eyebrow (HP:0010747)2.46841896
18Aplasia/Hypoplasia of the tibia (HP:0005772)2.46741913
19Drooling (HP:0002307)2.44599280
20Gait imbalance (HP:0002141)2.39413443
21Median cleft lip (HP:0000161)2.37184280
22Pancreatic cysts (HP:0001737)2.36796271
23Colon cancer (HP:0003003)2.33603914
24Polyphagia (HP:0002591)2.33575045
25Congenital primary aphakia (HP:0007707)2.33534676
26Hyperventilation (HP:0002883)2.33511300
27Osteomalacia (HP:0002749)2.31608781
28Tubulointerstitial nephritis (HP:0001970)2.31272545
29Genital tract atresia (HP:0001827)2.30487570
30Nephronophthisis (HP:0000090)2.28304752
31Abnormal hair whorl (HP:0010721)2.28076284
32Abnormal pancreas size (HP:0012094)2.25386096
33Absent speech (HP:0001344)2.24690680
34Nephrogenic diabetes insipidus (HP:0009806)2.24534816
35Thyroid carcinoma (HP:0002890)2.22440314
36Vaginal atresia (HP:0000148)2.22171818
37Excessive salivation (HP:0003781)2.17291764
38Abnormality of midbrain morphology (HP:0002418)2.16254069
39Molar tooth sign on MRI (HP:0002419)2.16254069
40Protruding tongue (HP:0010808)2.15251639
41Febrile seizures (HP:0002373)2.13681793
42Non-midline cleft lip (HP:0100335)2.12489922
43True hermaphroditism (HP:0010459)2.09664171
44Short tibia (HP:0005736)2.08436342
45Volvulus (HP:0002580)2.08351976
46Hypophosphatemic rickets (HP:0004912)2.05911337
47Anterior segment dysgenesis (HP:0007700)2.05876934
48White forelock (HP:0002211)2.05255590
49Poor coordination (HP:0002370)2.04822107
50Septo-optic dysplasia (HP:0100842)2.03817926
51Abnormality of the renal medulla (HP:0100957)2.02816176
52Fair hair (HP:0002286)2.00774604
53Broad alveolar ridges (HP:0000187)1.99416055
54Failure to thrive in infancy (HP:0001531)1.99081519
55Impaired vibration sensation in the lower limbs (HP:0002166)1.99037312
56Cone-rod dystrophy (HP:0000548)1.97943869
57Inability to walk (HP:0002540)1.97253135
58Urinary urgency (HP:0000012)1.97070060
59Split foot (HP:0001839)1.93763850
60Patchy hypopigmentation of hair (HP:0011365)1.93511852
61Capillary hemangiomas (HP:0005306)1.93502849
62Widely spaced teeth (HP:0000687)1.93339931
63Atonic seizures (HP:0010819)1.92986051
64Truncal obesity (HP:0001956)1.90713584
65Pancreatic fibrosis (HP:0100732)1.87754598
66Oligodactyly (HP:0012165)1.87040842
67Cerebellar dysplasia (HP:0007033)1.85837538
68Pendular nystagmus (HP:0012043)1.81675215
69Hip dysplasia (HP:0001385)1.81618590
70Attenuation of retinal blood vessels (HP:0007843)1.80617418
71Urinary bladder sphincter dysfunction (HP:0002839)1.80403545
72Agitation (HP:0000713)1.79882587
73Broad-based gait (HP:0002136)1.79276829
74Optic nerve hypoplasia (HP:0000609)1.78483762
75Horizontal nystagmus (HP:0000666)1.78210790
76Abnormality of macular pigmentation (HP:0008002)1.77456191
77Aplasia/Hypoplasia of the sternum (HP:0006714)1.76761535
78Progressive cerebellar ataxia (HP:0002073)1.75884014
79Inappropriate behavior (HP:0000719)1.75489632
80Long nose (HP:0003189)1.74986340
81Facial hemangioma (HP:0000329)1.73633137
82Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.73319057
83Dyschromatopsia (HP:0007641)1.72323154
84Chronic hepatic failure (HP:0100626)1.72065200
85Specific learning disability (HP:0001328)1.71332476
86Gaze-evoked nystagmus (HP:0000640)1.70894996
87Preaxial hand polydactyly (HP:0001177)1.70868995
88Pachygyria (HP:0001302)1.67633402
89Short foot (HP:0001773)1.66988946
90Intestinal atresia (HP:0011100)1.66826576
91Impulsivity (HP:0100710)1.65989645
92Dialeptic seizures (HP:0011146)1.65536174
93Small hand (HP:0200055)1.64206867
94Atrophy/Degeneration involving motor neurons (HP:0007373)1.64006592
95Abnormality of the aortic arch (HP:0012303)1.63560087
96Abnormality of the lower motor neuron (HP:0002366)1.62664469
97Medulloblastoma (HP:0002885)1.62475571
98Spastic paraplegia (HP:0001258)1.62359996
99Mutism (HP:0002300)1.61758778
100Pelvic girdle muscle weakness (HP:0003749)1.60882426

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK193.56012659
2STK38L3.24616725
3ACVR1B2.73406660
4PINK12.65201630
5MAP3K42.63677969
6CASK2.60248889
7FRK2.48531829
8PNCK2.35766019
9LATS12.26893255
10MARK12.15096446
11AKT32.08406886
12DYRK31.99297693
13TRIM281.95649555
14MAP2K71.88568488
15BRD41.77719280
16CAMK1G1.75845573
17STK241.69663578
18CSNK1A1L1.66236744
19NUAK11.65855625
20CSNK1G21.63998698
21BCR1.53086283
22NTRK31.52138140
23MAPK131.51935016
24BMPR1B1.47571667
25LATS21.46224668
26CSNK1G11.39443543
27WNK31.39150043
28CSNK1G31.36356043
29TESK21.35646757
30MARK31.35530000
31SGK21.29536563
32EIF2AK31.27723618
33EPHA41.20918432
34STK31.10444946
35SGK4941.09173688
36SGK2231.09173688
37ZAK1.05462205
38NEK61.05031641
39OBSCN1.03137577
40MKNK21.02907923
41NLK0.98738783
42DYRK20.97650834
43MAP2K40.96422088
44CAMK1D0.90793318
45UHMK10.90219449
46STK160.90206635
47SRPK10.88455717
48STK380.88370405
49EPHA30.83789364
50KSR10.80783181
51MKNK10.80517673
52OXSR10.80391907
53PRKCE0.78877774
54SIK20.77339880
55MET0.77142663
56DYRK1A0.74990817
57PRKCG0.74341607
58MAP3K50.74096565
59RAF10.73805150
60PLK40.73782015
61TAOK30.72158183
62WNK10.72029286
63PLK20.71728429
64NEK90.71593773
65PLK10.68859706
66TIE10.67714276
67CDK30.66899092
68BRSK20.65408046
69CDK50.65245630
70PRKD30.65134351
71RPS6KB10.58770360
72CAMK40.58598508
73TGFBR10.52791815
74PKN10.52232749
75CSNK1A10.51413058
76NEK20.50982373
77* ATM0.50362036
78PRKAA10.49709110
79SGK10.45894335
80RPS6KA50.45852475
81PRKG10.45446318
82MATK0.45353720
83PDK20.45240782
84MAP3K20.45090092
85CSNK1D0.44516635
86ERBB30.43874511
87DMPK0.43257645
88MAPKAPK50.42842131
89CDK90.42724073
90PBK0.40879269
91PAK30.40849410
92CSNK1E0.40260465
93PIM10.38810348
94TAF10.37598342
95CAMK10.36767166
96DAPK20.36491936
97* ATR0.35187768
98BCKDK0.35177599
99MELK0.35171260
100CHEK10.34853658

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030223.72179385
2Regulation of autophagy_Homo sapiens_hsa041403.23874172
3Nicotine addiction_Homo sapiens_hsa050332.84796059
4Dorso-ventral axis formation_Homo sapiens_hsa043202.83293562
5Circadian rhythm_Homo sapiens_hsa047102.74309396
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.65831176
7Phototransduction_Homo sapiens_hsa047442.59935825
8mRNA surveillance pathway_Homo sapiens_hsa030152.48494012
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.41814417
10* Ubiquitin mediated proteolysis_Homo sapiens_hsa041202.14950803
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.79060958
12Oocyte meiosis_Homo sapiens_hsa041141.70572224
13Protein export_Homo sapiens_hsa030601.65052480
14RNA degradation_Homo sapiens_hsa030181.59328390
15RNA transport_Homo sapiens_hsa030131.57889977
16Long-term depression_Homo sapiens_hsa047301.57325312
17Fanconi anemia pathway_Homo sapiens_hsa034601.51851419
18Cell cycle_Homo sapiens_hsa041101.39194402
19Selenocompound metabolism_Homo sapiens_hsa004501.39126696
20Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.37422953
21Ovarian steroidogenesis_Homo sapiens_hsa049131.30899481
22Taste transduction_Homo sapiens_hsa047421.29550373
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26888992
24TGF-beta signaling pathway_Homo sapiens_hsa043501.22640087
25Butanoate metabolism_Homo sapiens_hsa006501.21300870
26Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.21226646
27Hedgehog signaling pathway_Homo sapiens_hsa043401.17828560
28Propanoate metabolism_Homo sapiens_hsa006401.17207912
29Olfactory transduction_Homo sapiens_hsa047401.16655910
30Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.16296607
31Hippo signaling pathway_Homo sapiens_hsa043901.15248739
32Steroid biosynthesis_Homo sapiens_hsa001001.15196583
33Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.10982251
34ABC transporters_Homo sapiens_hsa020101.10814786
35Dopaminergic synapse_Homo sapiens_hsa047281.10332135
36alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.08138292
37Ether lipid metabolism_Homo sapiens_hsa005651.03815852
38Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.00588926
39GABAergic synapse_Homo sapiens_hsa047271.00145836
40Vitamin digestion and absorption_Homo sapiens_hsa049770.94708778
41Linoleic acid metabolism_Homo sapiens_hsa005910.93920137
42AMPK signaling pathway_Homo sapiens_hsa041520.91125518
43Sulfur metabolism_Homo sapiens_hsa009200.90432139
44Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.88674293
45FoxO signaling pathway_Homo sapiens_hsa040680.88462761
46Base excision repair_Homo sapiens_hsa034100.87966920
47Circadian entrainment_Homo sapiens_hsa047130.86531170
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.85878340
49Axon guidance_Homo sapiens_hsa043600.85079536
50Sphingolipid metabolism_Homo sapiens_hsa006000.84556216
51Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82896564
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.80188137
53Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75302038
54beta-Alanine metabolism_Homo sapiens_hsa004100.73590724
55Glutamatergic synapse_Homo sapiens_hsa047240.73412039
56Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72571420
57Morphine addiction_Homo sapiens_hsa050320.72410881
58Steroid hormone biosynthesis_Homo sapiens_hsa001400.68419795
59Cocaine addiction_Homo sapiens_hsa050300.68080419
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67655250
61Gap junction_Homo sapiens_hsa045400.66476714
62Collecting duct acid secretion_Homo sapiens_hsa049660.65888567
63* Wnt signaling pathway_Homo sapiens_hsa043100.63620355
64Calcium signaling pathway_Homo sapiens_hsa040200.63140079
65Synaptic vesicle cycle_Homo sapiens_hsa047210.62776859
66Serotonergic synapse_Homo sapiens_hsa047260.62390707
67Type II diabetes mellitus_Homo sapiens_hsa049300.61760191
68mTOR signaling pathway_Homo sapiens_hsa041500.61152361
69Homologous recombination_Homo sapiens_hsa034400.60837637
70RNA polymerase_Homo sapiens_hsa030200.59728048
71Amphetamine addiction_Homo sapiens_hsa050310.58594068
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58172970
73Nitrogen metabolism_Homo sapiens_hsa009100.57865205
74MAPK signaling pathway_Homo sapiens_hsa040100.55987306
75Spliceosome_Homo sapiens_hsa030400.55953648
76Phosphatidylinositol signaling system_Homo sapiens_hsa040700.54488376
77Adherens junction_Homo sapiens_hsa045200.54459384
78Basal cell carcinoma_Homo sapiens_hsa052170.53726970
79Lysine degradation_Homo sapiens_hsa003100.51763265
80Tryptophan metabolism_Homo sapiens_hsa003800.51700950
81Alcoholism_Homo sapiens_hsa050340.51132294
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49834573
83Choline metabolism in cancer_Homo sapiens_hsa052310.49807495
84Insulin secretion_Homo sapiens_hsa049110.49737607
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49226310
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46177217
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46033419
88Folate biosynthesis_Homo sapiens_hsa007900.45659446
89Retinol metabolism_Homo sapiens_hsa008300.44159437
90* p53 signaling pathway_Homo sapiens_hsa041150.43672916
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.43381747
92Sphingolipid signaling pathway_Homo sapiens_hsa040710.42955195
93ErbB signaling pathway_Homo sapiens_hsa040120.42468736
94Ras signaling pathway_Homo sapiens_hsa040140.42416224
95Histidine metabolism_Homo sapiens_hsa003400.41404500
96cAMP signaling pathway_Homo sapiens_hsa040240.41052963
97Oxytocin signaling pathway_Homo sapiens_hsa049210.39801615
98Inositol phosphate metabolism_Homo sapiens_hsa005620.39470048
99SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39356140
100cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37843785

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