BHLHA9

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 is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of calcium ion transport into cytosol (GO:0010523)8.00605340
2negative regulation of cation channel activity (GO:2001258)6.04786465
3peroxisome fission (GO:0016559)5.89108357
4cell migration in hindbrain (GO:0021535)5.86444789
5negative regulation of dendrite morphogenesis (GO:0050774)5.64188783
6glucose 6-phosphate metabolic process (GO:0051156)5.54295055
7neuronal action potential propagation (GO:0019227)5.50216032
8negative regulation of amyloid precursor protein catabolic process (GO:1902992)5.43091693
9negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)5.37291672
10peripheral nervous system neuron development (GO:0048935)5.00559817
11negative regulation of phosphoprotein phosphatase activity (GO:0032515)4.71296104
12protein localization to synapse (GO:0035418)4.57819048
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.57385676
14chaperone-mediated protein transport (GO:0072321)4.50473858
15synaptic vesicle exocytosis (GO:0016079)4.43413374
16regulation of amyloid precursor protein catabolic process (GO:1902991)4.43254627
17negative regulation of norepinephrine secretion (GO:0010700)4.37553330
18adenosine receptor signaling pathway (GO:0001973)4.32922843
19regulation of short-term neuronal synaptic plasticity (GO:0048172)4.30619327
20protein maturation by protein folding (GO:0022417)4.27615538
21positive regulation of inositol phosphate biosynthetic process (GO:0060732)4.25517727
22glutamate secretion (GO:0014047)4.11234208
23negative regulation of dendrite development (GO:2000171)4.10313139
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.04695063
25detection of temperature stimulus involved in sensory perception of pain (GO:0050965)4.02186616
26detection of temperature stimulus involved in sensory perception (GO:0050961)4.02186616
27positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.01158029
28calcium-mediated signaling using intracellular calcium source (GO:0035584)3.99542019
29membrane repolarization (GO:0086009)3.88855983
30regulation of synaptic vesicle exocytosis (GO:2000300)3.81760623
31negative regulation of ion transmembrane transporter activity (GO:0032413)3.73659205
32innervation (GO:0060384)3.70142845
33regulation of inositol phosphate biosynthetic process (GO:0010919)3.66537307
34regulation of neuron projection regeneration (GO:0070570)3.64751385
35regulation of axon regeneration (GO:0048679)3.64751385
36negative regulation of calcium ion transmembrane transport (GO:1903170)3.61592999
37negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.61592999
38proline transport (GO:0015824)3.57671006
39negative regulation of heart rate (GO:0010459)3.56643054
40neuron cell-cell adhesion (GO:0007158)3.52543703
41behavioral response to pain (GO:0048266)3.50146451
42negative regulation of microtubule polymerization (GO:0031115)3.45344270
43detection of mechanical stimulus involved in sensory perception (GO:0050974)3.37752775
44negative regulation of transporter activity (GO:0032410)3.37217544
45regulation of synaptic vesicle transport (GO:1902803)3.36242835
46neuronal action potential (GO:0019228)3.34285845
47synaptic vesicle maturation (GO:0016188)3.32854816
48regulation of penile erection (GO:0060405)3.30281832
49detection of temperature stimulus (GO:0016048)3.29106078
50regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.27348639
51membrane depolarization during action potential (GO:0086010)3.26916362
52cellular potassium ion homeostasis (GO:0030007)3.24944093
53regulation of histone phosphorylation (GO:0033127)3.18362148
54layer formation in cerebral cortex (GO:0021819)3.14274230
55vocalization behavior (GO:0071625)3.12155156
56regulation of cell communication by electrical coupling (GO:0010649)3.07074574
57retinal ganglion cell axon guidance (GO:0031290)3.06106534
58regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.00518444
59cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96243600
60negative regulation of catecholamine secretion (GO:0033604)2.96207157
61regulation of cation channel activity (GO:2001257)2.95446591
62regulation of voltage-gated calcium channel activity (GO:1901385)2.93916025
63protein neddylation (GO:0045116)2.92627881
64positive regulation of potassium ion transmembrane transport (GO:1901381)2.92615997
65regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.91096334
66hemoglobin metabolic process (GO:0020027)2.89933706
67ionotropic glutamate receptor signaling pathway (GO:0035235)2.88325238
68potassium ion export (GO:0071435)2.88087523
69membrane assembly (GO:0071709)2.87312888
70vesicle transport along microtubule (GO:0047496)2.86641315
71regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.85864929
72synaptic transmission, glutamatergic (GO:0035249)2.85104833
73response to water (GO:0009415)2.85085938
74positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.83740099
75sarcoplasmic reticulum calcium ion transport (GO:0070296)2.82332234
76positive regulation of synaptic transmission, GABAergic (GO:0032230)2.81568180
77exploration behavior (GO:0035640)2.81415217
78regulation of neuronal synaptic plasticity (GO:0048168)2.79748347
79establishment of mitochondrion localization (GO:0051654)2.78180320
80membrane budding (GO:0006900)2.77086492
81negative regulation of ion transmembrane transport (GO:0034766)2.76474155
82synaptic vesicle endocytosis (GO:0048488)2.76408185
83neuron-neuron synaptic transmission (GO:0007270)2.76271683
84gamma-aminobutyric acid transport (GO:0015812)2.74310503
85regulation of vesicle fusion (GO:0031338)2.74160214
86transferrin transport (GO:0033572)2.73749035
87regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.72191462
88cerebellar Purkinje cell differentiation (GO:0021702)2.72153669
89presynaptic membrane assembly (GO:0097105)2.72000552
90neuron fate specification (GO:0048665)2.70231254
91positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.70060917
92sensory perception of pain (GO:0019233)2.69954778
93cell communication by electrical coupling (GO:0010644)2.69796694
94negative regulation of leukocyte chemotaxis (GO:0002689)2.68034916
95sequestering of extracellular ligand from receptor (GO:0035581)2.66946853
96regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.65458877
97regulation of calcium ion transmembrane transporter activity (GO:1901019)2.64608557
98regulation of calcium ion transmembrane transport (GO:1903169)2.64608557
99glutamate receptor signaling pathway (GO:0007215)2.63900644
100sodium ion transmembrane transport (GO:0035725)2.63483060

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.45395841
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.26288869
3TAF15_26573619_Chip-Seq_HEK293_Human3.21167798
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17949737
5RNF2_18974828_ChIP-Seq_MESCs_Mouse3.13361813
6EZH2_18974828_ChIP-Seq_MESCs_Mouse3.13361813
7GBX2_23144817_ChIP-Seq_PC3_Human3.12051459
8* JARID2_20075857_ChIP-Seq_MESCs_Mouse3.10892398
9JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02562197
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.99932109
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.75433357
12* EZH2_27304074_Chip-Seq_ESCs_Mouse2.60119402
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.58992225
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58450175
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.53538047
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52214864
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51926672
18ZNF263_19887448_ChIP-Seq_K562_Human2.48590295
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.37344405
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20047658
21* REST_21632747_ChIP-Seq_MESCs_Mouse2.18943270
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09344353
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.06685846
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.05485827
25NR3C1_23031785_ChIP-Seq_PC12_Mouse1.96205201
26BMI1_23680149_ChIP-Seq_NPCS_Mouse1.90131344
27P300_19829295_ChIP-Seq_ESCs_Human1.87678656
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82080611
29CDX2_19796622_ChIP-Seq_MESCs_Mouse1.78238183
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.78072700
31PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.75921927
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.75440721
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74870181
34SMAD4_21799915_ChIP-Seq_A2780_Human1.70563441
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.60545319
36EGR1_19032775_ChIP-ChIP_M12_Human1.57433828
37ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.54741048
38OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53458456
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52717552
40ARNT_22903824_ChIP-Seq_MCF-7_Human1.48456502
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.44029280
42AHR_22903824_ChIP-Seq_MCF-7_Human1.39815082
43TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.37555158
44FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.34060465
45AR_25329375_ChIP-Seq_VCAP_Human1.33939936
46ZFP57_27257070_Chip-Seq_ESCs_Mouse1.33088738
47SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32959594
48P53_22127205_ChIP-Seq_FIBROBLAST_Human1.32530656
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.31938745
50BCAT_22108803_ChIP-Seq_LS180_Human1.30111431
51MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.25858838
52* PRDM14_20953172_ChIP-Seq_ESCs_Human1.24201089
53RNF2_27304074_Chip-Seq_NSC_Mouse1.23073305
54UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21959560
55VDR_22108803_ChIP-Seq_LS180_Human1.21455167
56TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20829924
57TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19633643
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17712137
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16803733
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.16346275
61TP53_18474530_ChIP-ChIP_U2OS_Human1.14184633
62CTCF_27219007_Chip-Seq_Bcells_Human1.11972512
63* RING1B_27294783_Chip-Seq_ESCs_Mouse1.10961934
64ESR2_21235772_ChIP-Seq_MCF-7_Human1.10808152
65CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08131639
66TP53_20018659_ChIP-ChIP_R1E_Mouse1.07032544
67MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06035145
68IKZF1_21737484_ChIP-ChIP_HCT116_Human1.05000760
69DROSHA_22980978_ChIP-Seq_HELA_Human1.04447251
70NANOG_19829295_ChIP-Seq_ESCs_Human1.03804728
71SOX2_19829295_ChIP-Seq_ESCs_Human1.03804728
72FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.02977132
73ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.02755106
74* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00469091
75JUN_21703547_ChIP-Seq_K562_Human0.99446031
76OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96788802
77SMAD4_21741376_ChIP-Seq_HESCs_Human0.94157645
78RING1B_27294783_Chip-Seq_NPCs_Mouse0.92358744
79ZNF274_21170338_ChIP-Seq_K562_Hela0.92323822
80SMAD3_21741376_ChIP-Seq_ESCs_Human0.91842022
81SOX2_21211035_ChIP-Seq_LN229_Gbm0.91804911
82RUNX2_22187159_ChIP-Seq_PCA_Human0.91281567
83TCF4_22108803_ChIP-Seq_LS180_Human0.91031159
84PIAS1_25552417_ChIP-Seq_VCAP_Human0.89756791
85KDM2B_26808549_Chip-Seq_REH_Human0.89335136
86STAT3_23295773_ChIP-Seq_U87_Human0.87640116
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.87240153
88SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.86349997
89SMAD3_21741376_ChIP-Seq_EPCs_Human0.86026306
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.84892074
91YAP1_20516196_ChIP-Seq_MESCs_Mouse0.84425777
92TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.82540794
93CBP_20019798_ChIP-Seq_JUKART_Human0.82316237
94IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.82316237
95EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.80368365
96LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79583180
97POU3F2_20337985_ChIP-ChIP_501MEL_Human0.79456702
98DNAJC2_21179169_ChIP-ChIP_NT2_Human0.78794368
99TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78379301
100* TET1_21490601_ChIP-Seq_MESCs_Mouse0.78137579

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002735_abnormal_chemical_nociception5.58046562
2MP0004859_abnormal_synaptic_plasticity5.37381153
3MP0004270_analgesia4.73583457
4MP0001968_abnormal_touch/_nociception4.70740988
5MP0002736_abnormal_nociception_after4.47988764
6MP0003880_abnormal_central_pattern4.46030885
7MP0002734_abnormal_mechanical_nocicepti3.65559289
8MP0002733_abnormal_thermal_nociception3.61467582
9MP0004858_abnormal_nervous_system3.33224221
10MP0001970_abnormal_pain_threshold3.22174193
11MP0003635_abnormal_synaptic_transmissio3.12540440
12MP0002064_seizures2.73251032
13MP0006276_abnormal_autonomic_nervous2.46691827
14MP0009745_abnormal_behavioral_response2.40850927
15MP0002184_abnormal_innervation2.29000214
16MP0002272_abnormal_nervous_system2.28979788
17MP0001440_abnormal_grooming_behavior2.24858527
18MP0002063_abnormal_learning/memory/cond2.24430349
19MP0005083_abnormal_biliary_tract2.24004065
20MP0001986_abnormal_taste_sensitivity2.18889026
21MP0002067_abnormal_sensory_capabilities2.18769838
22MP0002572_abnormal_emotion/affect_behav1.93764537
23MP0009046_muscle_twitch1.86353155
24MP0000778_abnormal_nervous_system1.70708091
25MP0000955_abnormal_spinal_cord1.65635814
26MP0003329_amyloid_beta_deposits1.64468937
27MP0004811_abnormal_neuron_physiology1.55561710
28MP0001501_abnormal_sleep_pattern1.42138357
29MP0002751_abnormal_autonomic_nervous1.39089100
30MP0009379_abnormal_foot_pigmentation1.37154597
31MP0002882_abnormal_neuron_morphology1.35829341
32MP0010234_abnormal_vibrissa_follicle1.35159932
33MP0001905_abnormal_dopamine_level1.34919091
34MP0001486_abnormal_startle_reflex1.33410908
35MP0002837_dystrophic_cardiac_calcinosis1.32542729
36MP0003879_abnormal_hair_cell1.24240274
37MP0004742_abnormal_vestibular_system1.24156572
38MP0004510_myositis1.22060142
39MP0000749_muscle_degeneration1.21468235
40MP0008961_abnormal_basal_metabolism1.17735124
41MP0008569_lethality_at_weaning1.17515650
42MP0002066_abnormal_motor_capabilities/c1.15272499
43MP0008260_abnormal_autophagy1.13926770
44MP0001348_abnormal_lacrimal_gland1.12738507
45MP0001664_abnormal_digestion1.11091378
46MP0000751_myopathy1.10072041
47MP0005423_abnormal_somatic_nervous1.04806003
48MP0002557_abnormal_social/conspecific_i1.03789190
49MP0008874_decreased_physiological_sensi1.00458644
50MP0009780_abnormal_chondrocyte_physiolo0.99018691
51MP0005535_abnormal_body_temperature0.98232403
52MP0005386_behavior/neurological_phenoty0.97884355
53MP0004924_abnormal_behavior0.97884355
54MP0002752_abnormal_somatic_nervous0.97782794
55MP0001270_distended_abdomen0.95533931
56MP0002229_neurodegeneration0.95291627
57MP0003656_abnormal_erythrocyte_physiolo0.91829292
58MP0003634_abnormal_glial_cell0.91623514
59MP0000920_abnormal_myelination0.89885054
60MP0000604_amyloidosis0.89368444
61MP0001984_abnormal_olfaction0.88351387
62MP0003633_abnormal_nervous_system0.86607333
63MP0002876_abnormal_thyroid_physiology0.86131206
64MP0000427_abnormal_hair_cycle0.84061497
65MP0002638_abnormal_pupillary_reflex0.83550915
66MP0001963_abnormal_hearing_physiology0.81345796
67MP0005171_absent_coat_pigmentation0.81016804
68MP0002069_abnormal_eating/drinking_beha0.79542099
69MP0001299_abnormal_eye_distance/0.78931638
70MP0003631_nervous_system_phenotype0.78252311
71MP0000681_abnormal_thyroid_gland0.77676484
72MP0002928_abnormal_bile_duct0.77641616
73MP0004142_abnormal_muscle_tone0.75806003
74MP0000579_abnormal_nail_morphology0.75522125
75MP0005084_abnormal_gallbladder_morpholo0.72896912
76MP0004145_abnormal_muscle_electrophysio0.72610217
77MP0004085_abnormal_heartbeat0.72391534
78MP0002160_abnormal_reproductive_system0.70613340
79MP0002152_abnormal_brain_morphology0.66389664
80MP0001502_abnormal_circadian_rhythm0.60964906
81MP0001943_abnormal_respiration0.59171410
82MP0009697_abnormal_copulation0.58104163
83MP0003183_abnormal_peptide_metabolism0.57285979
84MP0000747_muscle_weakness0.57127888
85MP0003942_abnormal_urinary_system0.54552127
86MP0005636_abnormal_mineral_homeostasis0.54360301
87MP0001188_hyperpigmentation0.53894910
88MP0001915_intracranial_hemorrhage0.53828665
89MP0001340_abnormal_eyelid_morphology0.52856344
90MP0003956_abnormal_body_size0.52798756
91MP0006036_abnormal_mitochondrial_physio0.49943716
92MP0005410_abnormal_fertilization0.49194950
93MP0001485_abnormal_pinna_reflex0.48836233
94MP0001529_abnormal_vocalization0.48730333
95MP0003045_fibrosis0.46518960
96MP0001346_abnormal_lacrimal_gland0.45616069
97MP0003632_abnormal_nervous_system0.45393264
98MP0002909_abnormal_adrenal_gland0.45140258
99MP0001177_atelectasis0.43585623
100MP0004036_abnormal_muscle_relaxation0.42401684

Predicted human phenotypes

RankGene SetZ-score
1Abnormal gallbladder physiology (HP:0012438)6.96079964
2Cholecystitis (HP:0001082)6.96079964
3Myokymia (HP:0002411)6.87804486
4Peripheral hypomyelination (HP:0007182)6.62581145
5Decreased number of large peripheral myelinated nerve fibers (HP:0003387)6.59980130
6Termporal pattern (HP:0011008)4.57902306
7Insidious onset (HP:0003587)4.57902306
8Action tremor (HP:0002345)4.52082031
9Submucous cleft hard palate (HP:0000176)4.23750030
10Atonic seizures (HP:0010819)4.01465298
11Distal arthrogryposis (HP:0005684)3.95157589
12Ulnar claw (HP:0001178)3.90285785
13Chin dimple (HP:0010751)3.84413469
14Cutaneous finger syndactyly (HP:0010554)3.74482526
15Focal motor seizures (HP:0011153)3.74458890
16Bilateral microphthalmos (HP:0007633)3.58408716
17Focal seizures (HP:0007359)3.56339589
18Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.54452570
19Cholelithiasis (HP:0001081)3.52091085
20Febrile seizures (HP:0002373)3.36488993
21Progressive cerebellar ataxia (HP:0002073)3.29090145
22Myotonia (HP:0002486)3.26587383
23Abnormal gallbladder morphology (HP:0012437)3.21857726
24Abnormality of the lacrimal duct (HP:0011481)3.16750011
25Pheochromocytoma (HP:0002666)3.14993908
26Postural tremor (HP:0002174)3.12298492
27Abnormality of the lower motor neuron (HP:0002366)3.10759337
28Decreased number of peripheral myelinated nerve fibers (HP:0003380)3.07541784
29Cutaneous syndactyly (HP:0012725)3.06580358
30Absent eyebrow (HP:0002223)3.06144358
31Absent eyelashes (HP:0000561)3.05819287
32Epileptic encephalopathy (HP:0200134)3.04979703
33Renal hypoplasia (HP:0000089)3.03429501
34Morphological abnormality of the middle ear (HP:0008609)3.02734462
35Abnormality of the vocal cords (HP:0008777)3.00382238
36Decreased muscle mass (HP:0003199)2.94020862
37Thoracolumbar scoliosis (HP:0002944)2.87525804
38Neuroendocrine neoplasm (HP:0100634)2.84865747
39Down-sloping shoulders (HP:0200021)2.75162134
40Hyperventilation (HP:0002883)2.73314911
41Absence seizures (HP:0002121)2.71598054
42Decreased motor nerve conduction velocity (HP:0003431)2.69863290
43Abnormality of the nasolacrimal system (HP:0000614)2.68794487
44Dialeptic seizures (HP:0011146)2.63232377
45Truncal ataxia (HP:0002078)2.62759523
46Visual hallucinations (HP:0002367)2.59227140
47Abnormality of pain sensation (HP:0010832)2.57625743
48Impaired pain sensation (HP:0007328)2.57625743
49Bicornuate uterus (HP:0000813)2.56473083
50Aplasia/Hypoplasia of the sternum (HP:0006714)2.55402117
51Absent phalangeal crease (HP:0006109)2.54206836
52Bifid tongue (HP:0010297)2.52734288
53Amblyopia (HP:0000646)2.50602264
54Hypomagnesemia (HP:0002917)2.43064799
55Overlapping toe (HP:0001845)2.42546214
56Hypoplasia of the brainstem (HP:0002365)2.41809551
57Aplasia/Hypoplasia of the brainstem (HP:0007362)2.41809551
58Reticulocytosis (HP:0001923)2.40911263
59Myelomeningocele (HP:0002475)2.33714761
60Failure to thrive in infancy (HP:0001531)2.33261766
61Abnormality of magnesium homeostasis (HP:0004921)2.31512349
62Sensory axonal neuropathy (HP:0003390)2.29520357
63Gaze-evoked nystagmus (HP:0000640)2.26193644
64Dysautonomia (HP:0002459)2.25520602
65Hypothermia (HP:0002045)2.23537998
66Supranuclear gaze palsy (HP:0000605)2.22425725
67Generalized tonic-clonic seizures (HP:0002069)2.22392357
68Vaginal atresia (HP:0000148)2.18441938
69Abnormality of the corticospinal tract (HP:0002492)2.16703990
70Genital tract atresia (HP:0001827)2.15496942
71Anophthalmia (HP:0000528)2.11981342
72Urinary bladder sphincter dysfunction (HP:0002839)2.10152798
73Abnormal finger flexion creases (HP:0006143)2.09033198
74Choanal stenosis (HP:0000452)2.08348583
75Midline defect of the nose (HP:0004122)2.06544965
76Abnormality of the pubic bones (HP:0003172)2.04534623
77Abnormality of the gallbladder (HP:0005264)2.03080009
78Acute necrotizing encephalopathy (HP:0006965)1.99963817
79Abnormal hair whorl (HP:0010721)1.98713937
80Depression (HP:0000716)1.97888780
81Rapidly progressive (HP:0003678)1.95809902
82Increased corneal curvature (HP:0100692)1.95610758
83Keratoconus (HP:0000563)1.95610758
84Mask-like facies (HP:0000298)1.90115568
85Hypercortisolism (HP:0001578)1.86581218
86Delusions (HP:0000746)1.86574226
87Anxiety (HP:0000739)1.85959486
88Limb dystonia (HP:0002451)1.85781573
89Akinesia (HP:0002304)1.85696574
90Inability to walk (HP:0002540)1.85032942
91Progressive macrocephaly (HP:0004481)1.84149022
92Steppage gait (HP:0003376)1.81704491
93Amyotrophic lateral sclerosis (HP:0007354)1.79455180
94Neoplasm of the peripheral nervous system (HP:0100007)1.79359317
95Anosmia (HP:0000458)1.77679638
96Facial shape deformation (HP:0011334)1.74195164
97Potter facies (HP:0002009)1.74195164
98Foot dorsiflexor weakness (HP:0009027)1.73360661
99Global brain atrophy (HP:0002283)1.69756783
100Segmental peripheral demyelination/remyelination (HP:0003481)1.69394302

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK54.04070206
2CASK4.01740886
3PTK2B3.87288550
4KSR23.56864295
5ARAF3.34568006
6MAP3K23.21078127
7MAP3K92.82290338
8LIMK12.81696959
9NTRK32.72681575
10BLK2.48951131
11DAPK22.44042856
12MINK12.39889302
13RIPK42.15684149
14TLK12.14634717
15MAP3K122.09721106
16TESK11.88079699
17EPHA41.85920052
18PRPF4B1.82230843
19RET1.65632136
20PLK21.52463304
21TESK21.50716011
22SIK31.42184173
23NME11.30265520
24MAPKAPK51.27538689
25MARK11.24717914
26LMTK21.24476881
27MAPK131.22992565
28MAP2K41.22138013
29MAP3K41.21475399
30MAP3K11.14274699
31MAP2K71.13983530
32PAK61.10452246
33CAMKK21.09041926
34PIM21.05276143
35MAP2K11.04001218
36MAPKAPK31.02874078
37BCR1.02270578
38PNCK0.99735132
39DAPK10.98444541
40UHMK10.95001068
41CDK50.94751777
42TNIK0.93926077
43EPHA30.92769217
44MAP3K70.92511590
45LATS20.92041056
46CDK140.91091801
47BRAF0.89428931
48KSR10.88468782
49NTRK10.87917727
50RAF10.87105199
51PHKG20.86201231
52PHKG10.86201231
53CDK80.83628377
54PINK10.83177351
55CAMK2B0.82472359
56MAP3K130.80748325
57FER0.80596608
58CDK180.79295303
59SGK20.78385777
60SGK4940.78137009
61SGK2230.78137009
62CAMKK10.75785684
63CAMK2A0.71795823
64CDK150.69148677
65RPS6KA20.68449414
66CSNK1G20.65302581
67CSNK1G30.64667730
68CDK11A0.58567329
69CAMK2D0.56116328
70STK390.54047886
71BMPR20.53753309
72SIK20.52488960
73PAK30.51765773
74PRKCG0.51342921
75CSNK1A1L0.50353056
76NME20.50157280
77CAMK2G0.48561956
78AKT30.46545457
79FES0.46410059
80CAMK40.45362568
81MAP3K60.45238718
82MAP2K20.44260438
83PRKCH0.41679394
84STK240.39605511
85ADRBK10.39282208
86PRKCE0.38779855
87SGK30.36027633
88FGR0.35957604
89TNK20.34383721
90PRKACA0.33091138
91DAPK30.32125878
92WNK10.31698143
93PRKACG0.29838411
94HIPK20.29272976
95WNK40.28678134
96TSSK60.27451839
97MAPK120.27332464
98OXSR10.27176931
99BMPR1B0.27040908
100CSNK1G10.25152404

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005247.30279796
2Synaptic vesicle cycle_Homo sapiens_hsa047213.13137926
3Collecting duct acid secretion_Homo sapiens_hsa049662.52707843
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.41700024
5Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.40335206
6Oxidative phosphorylation_Homo sapiens_hsa001902.23021007
7Nicotine addiction_Homo sapiens_hsa050332.19973307
8Taste transduction_Homo sapiens_hsa047422.18281209
9Long-term potentiation_Homo sapiens_hsa047201.98835773
10Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.95215468
11Parkinsons disease_Homo sapiens_hsa050121.93743265
12Carbohydrate digestion and absorption_Homo sapiens_hsa049731.84813148
13Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.81632707
14Cardiac muscle contraction_Homo sapiens_hsa042601.78640702
15Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.77926583
16Alzheimers disease_Homo sapiens_hsa050101.70014571
17Circadian entrainment_Homo sapiens_hsa047131.64482940
18Glutamatergic synapse_Homo sapiens_hsa047241.64440940
19Fructose and mannose metabolism_Homo sapiens_hsa000511.63678625
20Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.61856377
21Salivary secretion_Homo sapiens_hsa049701.53047336
22GABAergic synapse_Homo sapiens_hsa047271.49016781
23Insulin secretion_Homo sapiens_hsa049111.47976427
24Olfactory transduction_Homo sapiens_hsa047401.41893673
25Morphine addiction_Homo sapiens_hsa050321.40032554
26Dopaminergic synapse_Homo sapiens_hsa047281.36760023
27Amphetamine addiction_Homo sapiens_hsa050311.30323731
28Primary bile acid biosynthesis_Homo sapiens_hsa001201.27354929
29Type II diabetes mellitus_Homo sapiens_hsa049301.21505450
30Huntingtons disease_Homo sapiens_hsa050161.16711424
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.14515941
32Serotonergic synapse_Homo sapiens_hsa047261.12912633
33Cholinergic synapse_Homo sapiens_hsa047251.12259774
34Vibrio cholerae infection_Homo sapiens_hsa051101.11316176
35Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.06329983
36Dorso-ventral axis formation_Homo sapiens_hsa043201.03785773
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03284440
38Long-term depression_Homo sapiens_hsa047300.98621926
39Rheumatoid arthritis_Homo sapiens_hsa053230.96289264
40Renin secretion_Homo sapiens_hsa049240.94102347
41Gastric acid secretion_Homo sapiens_hsa049710.93781693
42Oxytocin signaling pathway_Homo sapiens_hsa049210.92522112
43Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92445289
44Glioma_Homo sapiens_hsa052140.83279354
45GnRH signaling pathway_Homo sapiens_hsa049120.82462742
46Calcium signaling pathway_Homo sapiens_hsa040200.81708403
47Central carbon metabolism in cancer_Homo sapiens_hsa052300.81026123
48Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79771662
49Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.79764069
50Cocaine addiction_Homo sapiens_hsa050300.79179703
51Gap junction_Homo sapiens_hsa045400.77416165
52Axon guidance_Homo sapiens_hsa043600.75461638
53Galactose metabolism_Homo sapiens_hsa000520.74792984
54Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.72378786
55Insulin signaling pathway_Homo sapiens_hsa049100.71741627
56Aldosterone synthesis and secretion_Homo sapiens_hsa049250.71406947
57Phosphatidylinositol signaling system_Homo sapiens_hsa040700.70298603
58HIF-1 signaling pathway_Homo sapiens_hsa040660.68027122
59Mineral absorption_Homo sapiens_hsa049780.67734016
60cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67663841
61Melanogenesis_Homo sapiens_hsa049160.67203211
62cAMP signaling pathway_Homo sapiens_hsa040240.65583045
63Phototransduction_Homo sapiens_hsa047440.64198719
64Pancreatic secretion_Homo sapiens_hsa049720.63256188
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62928466
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.61999530
67VEGF signaling pathway_Homo sapiens_hsa043700.61960374
68Bile secretion_Homo sapiens_hsa049760.61767855
69Starch and sucrose metabolism_Homo sapiens_hsa005000.60846667
70Estrogen signaling pathway_Homo sapiens_hsa049150.58216047
71Prion diseases_Homo sapiens_hsa050200.56128025
72ErbB signaling pathway_Homo sapiens_hsa040120.55555838
73Sulfur metabolism_Homo sapiens_hsa009200.54698026
74Endometrial cancer_Homo sapiens_hsa052130.54473074
75Endocytosis_Homo sapiens_hsa041440.53843043
76Phagosome_Homo sapiens_hsa041450.52960219
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52859253
78Thyroid hormone synthesis_Homo sapiens_hsa049180.51965249
79Oocyte meiosis_Homo sapiens_hsa041140.51305605
80Melanoma_Homo sapiens_hsa052180.49432262
81Steroid biosynthesis_Homo sapiens_hsa001000.44030947
82Regulation of autophagy_Homo sapiens_hsa041400.42823166
83Salmonella infection_Homo sapiens_hsa051320.42718885
84Thyroid cancer_Homo sapiens_hsa052160.42420796
85Vascular smooth muscle contraction_Homo sapiens_hsa042700.39909951
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39105208
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.36450827
88MAPK signaling pathway_Homo sapiens_hsa040100.33579345
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.33099737
90Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.30964380
91Bladder cancer_Homo sapiens_hsa052190.30374258
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.29749146
93Prolactin signaling pathway_Homo sapiens_hsa049170.29285128
94Thyroid hormone signaling pathway_Homo sapiens_hsa049190.28525807
95Renal cell carcinoma_Homo sapiens_hsa052110.26846276
96Choline metabolism in cancer_Homo sapiens_hsa052310.24578143
97Ras signaling pathway_Homo sapiens_hsa040140.24557748
98Hematopoietic cell lineage_Homo sapiens_hsa046400.22931710
99Rap1 signaling pathway_Homo sapiens_hsa040150.22888605
100Peroxisome_Homo sapiens_hsa041460.19981003

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