SHOX

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 belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)7.37317632
2membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.56743078
3cell proliferation in forebrain (GO:0021846)4.35135963
4sulfation (GO:0051923)4.29317030
5water-soluble vitamin biosynthetic process (GO:0042364)4.21271663
6mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.05870442
7mitochondrial respiratory chain complex I assembly (GO:0032981)4.05870442
8NADH dehydrogenase complex assembly (GO:0010257)4.05870442
9protein complex biogenesis (GO:0070271)3.95438550
10negative regulation of response to food (GO:0032096)3.84774144
11negative regulation of appetite (GO:0032099)3.84774144
12DNA deamination (GO:0045006)3.82445815
13protein polyglutamylation (GO:0018095)3.65664588
14indolalkylamine metabolic process (GO:0006586)3.64107534
15serotonin metabolic process (GO:0042428)3.59444832
16gamma-aminobutyric acid transport (GO:0015812)3.58460767
17mitochondrial respiratory chain complex assembly (GO:0033108)3.58402630
18negative regulation of transcription regulatory region DNA binding (GO:2000678)3.56797330
19membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.39477637
20primary amino compound metabolic process (GO:1901160)3.39344717
21parturition (GO:0007567)3.28560820
22epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.27285193
23regulation of mesoderm development (GO:2000380)3.23677480
24somite development (GO:0061053)3.22910693
25establishment of protein localization to mitochondrial membrane (GO:0090151)3.22754228
26cellular response to ATP (GO:0071318)3.15772638
27membrane repolarization during action potential (GO:0086011)3.11849120
28negative regulation of systemic arterial blood pressure (GO:0003085)3.02200660
29indole-containing compound metabolic process (GO:0042430)3.00883616
30L-fucose catabolic process (GO:0042355)2.97983367
31fucose catabolic process (GO:0019317)2.97983367
32L-fucose metabolic process (GO:0042354)2.97983367
33kynurenine metabolic process (GO:0070189)2.97920269
34tryptophan catabolic process (GO:0006569)2.95279955
35indole-containing compound catabolic process (GO:0042436)2.95279955
36indolalkylamine catabolic process (GO:0046218)2.95279955
37transmission of nerve impulse (GO:0019226)2.91681676
38mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.89612038
39ATP synthesis coupled proton transport (GO:0015986)2.89015189
40energy coupled proton transport, down electrochemical gradient (GO:0015985)2.89015189
41response to pheromone (GO:0019236)2.87303106
42epithelial cilium movement (GO:0003351)2.84053016
43detection of light stimulus involved in sensory perception (GO:0050962)2.82194792
44detection of light stimulus involved in visual perception (GO:0050908)2.82194792
45regulation of glomerulus development (GO:0090192)2.79850705
46positive regulation of fatty acid oxidation (GO:0046321)2.79558360
47positive regulation of potassium ion transmembrane transport (GO:1901381)2.77880419
48regulation of DNA endoreduplication (GO:0032875)2.77509899
49cellular response to exogenous dsRNA (GO:0071360)2.76580522
50negative regulation of telomere maintenance (GO:0032205)2.76426651
51dentate gyrus development (GO:0021542)2.74638483
52cellular anion homeostasis (GO:0030002)2.71058765
53positive regulation of fatty acid beta-oxidation (GO:0032000)2.70763313
54magnesium ion transport (GO:0015693)2.70706328
55protein localization to cilium (GO:0061512)2.70581148
56synaptic transmission, cholinergic (GO:0007271)2.69864418
57neuronal action potential (GO:0019228)2.69219956
58otic vesicle formation (GO:0030916)2.68100168
59regulation of action potential (GO:0098900)2.67548338
60negative regulation of mast cell activation (GO:0033004)2.67168589
61cornea development in camera-type eye (GO:0061303)2.65271635
62regulation of membrane repolarization (GO:0060306)2.64047121
63platelet dense granule organization (GO:0060155)2.63956700
64retinal ganglion cell axon guidance (GO:0031290)2.63338980
65negative regulation of synaptic transmission, GABAergic (GO:0032229)2.62792190
66kidney morphogenesis (GO:0060993)2.60579709
67membrane depolarization during action potential (GO:0086010)2.60517202
68protein neddylation (GO:0045116)2.60434576
69ovulation cycle (GO:0042698)2.60073786
70regulation of rhodopsin mediated signaling pathway (GO:0022400)2.59122081
713-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.58697042
72purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.58697042
73mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.57207516
74regulation of appetite (GO:0032098)2.56766955
75positive regulation of fatty acid transport (GO:2000193)2.56409295
76endoderm formation (GO:0001706)2.55958996
77axoneme assembly (GO:0035082)2.55185071
78regulation of posttranscriptional gene silencing (GO:0060147)2.53444584
79regulation of gene silencing by miRNA (GO:0060964)2.53444584
80regulation of gene silencing by RNA (GO:0060966)2.53444584
81adaptation of signaling pathway (GO:0023058)2.51492001
82rhodopsin mediated signaling pathway (GO:0016056)2.48334460
83pyrimidine nucleobase catabolic process (GO:0006208)2.48136358
84positive regulation of defense response to virus by host (GO:0002230)2.47317254
85positive regulation of cardiac muscle cell differentiation (GO:2000727)2.47264560
86nonmotile primary cilium assembly (GO:0035058)2.47218137
87membrane repolarization (GO:0086009)2.46868081
88regulation of hippo signaling (GO:0035330)2.46801186
89pharyngeal system development (GO:0060037)2.46504030
90reflex (GO:0060004)2.44834394
91piRNA metabolic process (GO:0034587)2.44323682
92regulation of transcription regulatory region DNA binding (GO:2000677)2.44029474
93protein-cofactor linkage (GO:0018065)2.43418912
94spinal cord motor neuron differentiation (GO:0021522)2.43321971
95positive regulation of cAMP-mediated signaling (GO:0043950)2.42300829
96detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.41615556
97regulation of sequestering of triglyceride (GO:0010889)2.41283052
98tryptophan metabolic process (GO:0006568)2.37880334
99DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.37191401
100regulation of response to food (GO:0032095)2.36636919

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.16028442
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.99260921
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.97252333
4ZNF274_21170338_ChIP-Seq_K562_Hela2.94068799
5VDR_22108803_ChIP-Seq_LS180_Human2.85092516
6GBX2_23144817_ChIP-Seq_PC3_Human2.58376553
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32501269
8BMI1_23680149_ChIP-Seq_NPCS_Mouse2.22540707
9EED_16625203_ChIP-ChIP_MESCs_Mouse2.21792488
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.17307097
11CBX2_27304074_Chip-Seq_ESCs_Mouse2.09826134
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.09605737
13JARID2_20064375_ChIP-Seq_MESCs_Mouse2.04782479
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.02144541
15NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.97544399
16IRF1_19129219_ChIP-ChIP_H3396_Human1.88030576
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87676568
18EWS_26573619_Chip-Seq_HEK293_Human1.85024952
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83231141
20CTBP2_25329375_ChIP-Seq_LNCAP_Human1.79696245
21IGF1R_20145208_ChIP-Seq_DFB_Human1.78227764
22SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.77496632
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75365946
24SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.74951919
25JARID2_20075857_ChIP-Seq_MESCs_Mouse1.73001454
26REST_21632747_ChIP-Seq_MESCs_Mouse1.72219900
27HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.71576247
28RNF2_27304074_Chip-Seq_NSC_Mouse1.68695788
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.67658195
30P300_19829295_ChIP-Seq_ESCs_Human1.66859133
31TAF15_26573619_Chip-Seq_HEK293_Human1.61057001
32FUS_26573619_Chip-Seq_HEK293_Human1.60502532
33SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.59357497
34POU3F2_20337985_ChIP-ChIP_501MEL_Human1.57958950
35SUZ12_27294783_Chip-Seq_ESCs_Mouse1.57494935
36FLI1_27457419_Chip-Seq_LIVER_Mouse1.55787746
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.54080647
38CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.51570831
39MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.49014558
40RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.46860685
41SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.44837239
42RNF2_27304074_Chip-Seq_ESCs_Mouse1.44321168
43ER_23166858_ChIP-Seq_MCF-7_Human1.42879949
44EZH2_18974828_ChIP-Seq_MESCs_Mouse1.41253832
45RNF2_18974828_ChIP-Seq_MESCs_Mouse1.41253832
46SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.40795451
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39628549
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37184148
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37039585
50AR_25329375_ChIP-Seq_VCAP_Human1.26768809
51BCAT_22108803_ChIP-Seq_LS180_Human1.26713129
52MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26219391
53SMAD4_21799915_ChIP-Seq_A2780_Human1.25845503
54TDRD3_21172665_ChIP-Seq_MCF-7_Human1.24681775
55AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23308960
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22636594
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21773204
58STAT3_23295773_ChIP-Seq_U87_Human1.21457183
59CBP_20019798_ChIP-Seq_JUKART_Human1.21091396
60IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21091396
61SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20798884
62MYC_18940864_ChIP-ChIP_HL60_Human1.20294607
63PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18790622
64TP53_22573176_ChIP-Seq_HFKS_Human1.17624605
65TCF4_23295773_ChIP-Seq_U87_Human1.16344072
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16265044
67AUTS2_25519132_ChIP-Seq_293T-REX_Human1.16131324
68TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15905827
69MTF2_20144788_ChIP-Seq_MESCs_Mouse1.15829319
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.15645491
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15449096
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15449096
73NCOR_22424771_ChIP-Seq_293T_Human1.15396717
74NOTCH1_21737748_ChIP-Seq_TLL_Human1.13719646
75REST_18959480_ChIP-ChIP_MESCs_Mouse1.12529042
76GABP_17652178_ChIP-ChIP_JURKAT_Human1.12522880
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.11709266
78P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11144248
79SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.10774623
80GATA3_21878914_ChIP-Seq_MCF-7_Human1.10474736
81NANOG_19829295_ChIP-Seq_ESCs_Human1.09316209
82SOX2_19829295_ChIP-Seq_ESCs_Human1.09316209
83FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08869192
84FOXA1_25329375_ChIP-Seq_VCAP_Human1.08869192
85CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08239781
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.07855791
87POU5F1_16153702_ChIP-ChIP_HESCs_Human1.06862024
88ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06456014
89ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.04594372
90FLI1_21867929_ChIP-Seq_TH2_Mouse1.04140333
91STAT6_21828071_ChIP-Seq_BEAS2B_Human1.03748833
92RING1B_27294783_Chip-Seq_ESCs_Mouse1.02982307
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02520318
94PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01416827
95PRDM14_20953172_ChIP-Seq_ESCs_Human1.01259233
96SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00559115
97SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00504462
98TP53_20018659_ChIP-ChIP_R1E_Mouse1.00473641
99SMAD4_21741376_ChIP-Seq_EPCs_Human0.99448195
100RUNX2_22187159_ChIP-Seq_PCA_Human0.96273865

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.16746849
2MP0003646_muscle_fatigue2.62271632
3MP0004885_abnormal_endolymph2.60629102
4MP0002837_dystrophic_cardiac_calcinosis2.56862096
5MP0002102_abnormal_ear_morphology2.48875162
6MP0005646_abnormal_pituitary_gland2.41300007
7MP0008877_abnormal_DNA_methylation2.38857155
8MP0002160_abnormal_reproductive_system2.27248981
9MP0001968_abnormal_touch/_nociception2.26123047
10MP0009379_abnormal_foot_pigmentation2.17410999
11MP0004142_abnormal_muscle_tone2.07185748
12MP0001485_abnormal_pinna_reflex2.07170778
13MP0005551_abnormal_eye_electrophysiolog2.05375071
14MP0006072_abnormal_retinal_apoptosis2.03280512
15MP0003011_delayed_dark_adaptation2.01749761
16MP0002876_abnormal_thyroid_physiology1.94278844
17MP0000049_abnormal_middle_ear1.91628759
18MP0002272_abnormal_nervous_system1.89349713
19MP0000631_abnormal_neuroendocrine_gland1.86015181
20MP0004133_heterotaxia1.84910254
21MP0005389_reproductive_system_phenotype1.83400656
22MP0009745_abnormal_behavioral_response1.81748437
23MP0004145_abnormal_muscle_electrophysio1.80323672
24MP0003787_abnormal_imprinting1.70106266
25MP0002736_abnormal_nociception_after1.68347591
26MP0009046_muscle_twitch1.64991051
27MP0008872_abnormal_physiological_respon1.62841194
28MP0003195_calcinosis1.60447194
29MP0001440_abnormal_grooming_behavior1.59811885
30MP0006276_abnormal_autonomic_nervous1.59665783
31MP0002653_abnormal_ependyma_morphology1.58637029
32MP0002638_abnormal_pupillary_reflex1.58574873
33MP0003880_abnormal_central_pattern1.57651249
34MP0004130_abnormal_muscle_cell1.52894625
35MP0003283_abnormal_digestive_organ1.50532725
36MP0002938_white_spotting1.48944064
37MP0004742_abnormal_vestibular_system1.46592598
38MP0000569_abnormal_digit_pigmentation1.45730302
39MP0002733_abnormal_thermal_nociception1.42735902
40MP0002735_abnormal_chemical_nociception1.41950698
41MP0002163_abnormal_gland_morphology1.37288185
42MP0001486_abnormal_startle_reflex1.35272674
43MP0005253_abnormal_eye_physiology1.34989828
44MP0001970_abnormal_pain_threshold1.32404747
45MP0002064_seizures1.30762476
46MP0001905_abnormal_dopamine_level1.29355015
47MP0002557_abnormal_social/conspecific_i1.27691669
48MP0008775_abnormal_heart_ventricle1.27523173
49MP0000026_abnormal_inner_ear1.27236766
50MP0003879_abnormal_hair_cell1.27036774
51MP0008789_abnormal_olfactory_epithelium1.25946627
52MP0003136_yellow_coat_color1.25809155
53MP0002572_abnormal_emotion/affect_behav1.25404845
54MP0001986_abnormal_taste_sensitivity1.23687458
55MP0005084_abnormal_gallbladder_morpholo1.23345614
56MP0005645_abnormal_hypothalamus_physiol1.19306709
57MP0002734_abnormal_mechanical_nocicepti1.18237380
58MP0001919_abnormal_reproductive_system1.17405125
59MP0003635_abnormal_synaptic_transmissio1.15413339
60MP0003119_abnormal_digestive_system1.14810281
61MP0008875_abnormal_xenobiotic_pharmacok1.13949124
62MP0001529_abnormal_vocalization1.13281906
63MP0003938_abnormal_ear_development1.11742209
64MP0002063_abnormal_learning/memory/cond1.10060912
65MP0000230_abnormal_systemic_arterial1.09878107
66MP0002184_abnormal_innervation1.06525264
67MP0002138_abnormal_hepatobiliary_system1.05112880
68MP0001963_abnormal_hearing_physiology1.04622105
69MP0009250_abnormal_appendicular_skeleto1.04596859
70MP0005195_abnormal_posterior_eye1.03312772
71MP0000778_abnormal_nervous_system1.03109602
72MP0003937_abnormal_limbs/digits/tail_de1.02894037
73MP0002752_abnormal_somatic_nervous1.01674607
74MP0002067_abnormal_sensory_capabilities1.01563035
75MP0001502_abnormal_circadian_rhythm1.00532315
76MP0002928_abnormal_bile_duct0.99084942
77MP0005174_abnormal_tail_pigmentation0.98539977
78MP0003121_genomic_imprinting0.96691567
79MP0005386_behavior/neurological_phenoty0.96211722
80MP0004924_abnormal_behavior0.96211722
81MP0010386_abnormal_urinary_bladder0.94249967
82MP0002277_abnormal_respiratory_mucosa0.93423141
83MP0004134_abnormal_chest_morphology0.90556074
84MP0004215_abnormal_myocardial_fiber0.90387812
85MP0005423_abnormal_somatic_nervous0.87338058
86MP0005379_endocrine/exocrine_gland_phen0.87008113
87MP0003878_abnormal_ear_physiology0.85947962
88MP0005377_hearing/vestibular/ear_phenot0.85947962
89MP0000427_abnormal_hair_cycle0.85669043
90MP0002909_abnormal_adrenal_gland0.85228797
91MP0003890_abnormal_embryonic-extraembry0.83959820
92MP0003122_maternal_imprinting0.82866684
93MP0003638_abnormal_response/metabolism_0.79891157
94MP0004085_abnormal_heartbeat0.78801430
95MP0003942_abnormal_urinary_system0.76978483
96MP0002234_abnormal_pharynx_morphology0.76663092
97MP0005394_taste/olfaction_phenotype0.76412027
98MP0005499_abnormal_olfactory_system0.76412027
99MP0002751_abnormal_autonomic_nervous0.74206043
100MP0003567_abnormal_fetal_cardiomyocyte0.74177522

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.07914337
2Pancreatic fibrosis (HP:0100732)3.87350835
3Abnormality of midbrain morphology (HP:0002418)3.67465639
4Molar tooth sign on MRI (HP:0002419)3.67465639
5True hermaphroditism (HP:0010459)3.61052336
6Nephronophthisis (HP:0000090)3.60666851
7Congenital stationary night blindness (HP:0007642)3.50696991
8Abolished electroretinogram (ERG) (HP:0000550)3.38298338
9Pendular nystagmus (HP:0012043)3.22619477
10Congenital, generalized hypertrichosis (HP:0004540)3.10609939
11Abnormality of the renal medulla (HP:0100957)3.02568018
12Progressive cerebellar ataxia (HP:0002073)2.92903299
13Type II lissencephaly (HP:0007260)2.83747375
14Abnormality of the renal cortex (HP:0011035)2.79679074
15Absent rod-and cone-mediated responses on ERG (HP:0007688)2.74753896
16Genetic anticipation (HP:0003743)2.67290177
17Abnormal rod and cone electroretinograms (HP:0008323)2.66990263
18Aplasia/Hypoplasia of the spleen (HP:0010451)2.65306708
19Asplenia (HP:0001746)2.64714513
20Abnormality of the phalanges of the 2nd finger (HP:0009541)2.63774742
21Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.55195056
22Decreased central vision (HP:0007663)2.54965947
23Increased corneal curvature (HP:0100692)2.54188640
24Keratoconus (HP:0000563)2.54188640
25Cystic liver disease (HP:0006706)2.53990826
26Decreased electroretinogram (ERG) amplitude (HP:0000654)2.49600151
27Abnormality of the proximal phalanges of the hand (HP:0009834)2.48383987
28Medial flaring of the eyebrow (HP:0010747)2.47688973
29Methylmalonic acidemia (HP:0002912)2.46066155
30Acute necrotizing encephalopathy (HP:0006965)2.45989406
31Abnormality of the phalanges of the 5th finger (HP:0004213)2.41868850
32Tubular atrophy (HP:0000092)2.41530108
33Decreased circulating renin level (HP:0003351)2.41424770
34Sclerocornea (HP:0000647)2.41247102
35Agitation (HP:0000713)2.39855814
36Mitochondrial inheritance (HP:0001427)2.36563144
37Furrowed tongue (HP:0000221)2.36351035
38Abnormality of the middle phalanges of the toes (HP:0010183)2.36152432
39Abnormal number of erythroid precursors (HP:0012131)2.30603808
40Symphalangism affecting the phalanges of the hand (HP:0009773)2.27301630
41Polydipsia (HP:0001959)2.24882191
42Abnormal drinking behavior (HP:0030082)2.24882191
43Attenuation of retinal blood vessels (HP:0007843)2.24085890
443-Methylglutaconic aciduria (HP:0003535)2.23896059
45Absent/shortened dynein arms (HP:0200106)2.23633098
46Dynein arm defect of respiratory motile cilia (HP:0012255)2.23633098
47Congenital sensorineural hearing impairment (HP:0008527)2.21128458
48Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.21073400
49Short hallux (HP:0010109)2.20086136
50Concave nail (HP:0001598)2.19868958
51Optic nerve hypoplasia (HP:0000609)2.16996066
52Male pseudohermaphroditism (HP:0000037)2.15885915
53Aplasia/Hypoplasia of the hallux (HP:0008362)2.15813643
54Chronic hepatic failure (HP:0100626)2.15282216
55Abnormality of cells of the erythroid lineage (HP:0012130)2.14611446
56Septo-optic dysplasia (HP:0100842)2.14551999
57Abnormal respiratory epithelium morphology (HP:0012253)2.14161123
58Abnormal respiratory motile cilium morphology (HP:0005938)2.14161123
59Clumsiness (HP:0002312)2.14145142
60Progressive macrocephaly (HP:0004481)2.13706226
61Increased CSF lactate (HP:0002490)2.10551351
62Aplasia/hypoplasia of the uterus (HP:0008684)2.09071469
63Chorioretinal atrophy (HP:0000533)2.08746963
64Hypoplasia of the uterus (HP:0000013)2.08746279
65Methylmalonic aciduria (HP:0012120)2.08184466
66Abnormal mitochondria in muscle tissue (HP:0008316)2.07756775
67Small hand (HP:0200055)2.06402294
68Anencephaly (HP:0002323)2.05247639
69Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.04480484
70Abnormality of alanine metabolism (HP:0010916)2.04480484
71Hyperalaninemia (HP:0003348)2.04480484
72Acute encephalopathy (HP:0006846)2.01944273
73Renal cortical cysts (HP:0000803)2.01572096
74Hyperventilation (HP:0002883)2.01297440
75Gaze-evoked nystagmus (HP:0000640)1.96492176
76Abnormality of the renal collecting system (HP:0004742)1.95715604
77Bony spicule pigmentary retinopathy (HP:0007737)1.95665116
78Abnormal ciliary motility (HP:0012262)1.95253059
79Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.93628039
80Lissencephaly (HP:0001339)1.92250697
81Congenital hepatic fibrosis (HP:0002612)1.91570876
82Gait imbalance (HP:0002141)1.90654057
83Thyroid-stimulating hormone excess (HP:0002925)1.89550375
84Hypoplasia of the pons (HP:0012110)1.89362242
85Morphological abnormality of the middle ear (HP:0008609)1.88188622
86Aplasia/Hypoplasia of the tongue (HP:0010295)1.87560591
87Fibular aplasia (HP:0002990)1.87088033
88Rib fusion (HP:0000902)1.84701845
89Hepatocellular necrosis (HP:0001404)1.82907575
90Adactyly (HP:0009776)1.82840361
91Congenital primary aphakia (HP:0007707)1.81963776
92Absent thumb (HP:0009777)1.81434261
93Optic disc pallor (HP:0000543)1.81116579
94Hemiparesis (HP:0001269)1.81036466
95Lipid accumulation in hepatocytes (HP:0006561)1.80999659
96Abnormality of the pons (HP:0007361)1.80494349
97Adrenal hypoplasia (HP:0000835)1.80467402
98Megalencephaly (HP:0001355)1.80458055
99Stenosis of the external auditory canal (HP:0000402)1.80386649
100Broad-based gait (HP:0002136)1.78573916

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.51189847
2TLK14.01841053
3ADRBK23.65534837
4GRK13.14872771
5BMPR1B2.72335302
6WNK42.41099503
7MAP4K22.37554536
8PINK12.20253064
9NUAK12.14951511
10TAOK32.12587368
11WNK32.05839673
12ZAK2.04188172
13CASK1.90986680
14INSRR1.85770800
15MAPK131.69625492
16ACVR1B1.63104073
17TXK1.50842867
18BCKDK1.49567894
19DYRK21.49401720
20ADRBK11.37420652
21NTRK31.34043644
22GRK71.32163023
23DAPK21.26500632
24PIK3CA1.26389571
25MAP3K41.24252515
26STK391.24164349
27PRKCG1.22783147
28PAK31.22180693
29TIE11.14226348
30OXSR11.14070700
31NTRK21.10053278
32MAPK151.01018777
33MARK11.00322969
34STK160.99232739
35PHKG10.96797817
36PHKG20.96797817
37PRKCE0.90722290
38CSNK1G20.89507534
39SGK20.88909133
40PLK20.87891793
41TNIK0.86027716
42VRK10.85919886
43MAP2K70.85480489
44SGK4940.85097630
45SGK2230.85097630
46NME10.84797590
47PRKD20.82234409
48GRK50.82010902
49CAMKK20.80731590
50MUSK0.79560485
51IKBKB0.79358332
52EPHB20.78611833
53PNCK0.75458037
54RPS6KA60.74792048
55PRKACA0.73810280
56RPS6KA50.72648098
57CSNK1G30.72596792
58TAF10.71722243
59PKN10.70495803
60STK110.70245871
61TGFBR10.68568108
62CSNK1G10.68476680
63FGFR20.66279868
64MAPKAPK50.65681497
65PTK2B0.64125675
66TEC0.63577090
67VRK20.63566744
68ERBB20.63422047
69CAMK2A0.62660910
70PRKCQ0.61427625
71MAP2K60.61374990
72CAMK10.58849570
73CSNK1A10.56462134
74KIT0.54702033
75MAP2K20.54315350
76SIK20.53157763
77CSNK1A1L0.51449055
78RPS6KA20.50542378
79MAP3K90.50275504
80MKNK20.50122869
81PRKCA0.47575650
82OBSCN0.47065186
83DYRK30.44187575
84PRKCZ0.42367478
85ABL20.42297149
86PRKCI0.41477743
87CHUK0.39762913
88AKT30.38746505
89STK38L0.38590094
90SGK10.38498617
91SYK0.36465926
92PRKACG0.36018009
93PRKG10.35983761
94CDK80.35840921
95GRK60.34394598
96EPHA40.33999511
97RPS6KL10.33884060
98RPS6KC10.33884060
99MAPKAPK30.32987330
100WNK10.32434136

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.01576622
2Phototransduction_Homo sapiens_hsa047442.78202360
3Nicotine addiction_Homo sapiens_hsa050332.49988419
4Parkinsons disease_Homo sapiens_hsa050122.36682219
5Ribosome_Homo sapiens_hsa030102.36629851
6Linoleic acid metabolism_Homo sapiens_hsa005912.31045837
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.24145882
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.16162667
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.13664435
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.10134050
11Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.02557177
12Cardiac muscle contraction_Homo sapiens_hsa042602.01197728
13Nitrogen metabolism_Homo sapiens_hsa009101.94043583
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.79495395
15Protein export_Homo sapiens_hsa030601.76917677
16Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.76820260
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.75363622
18Alzheimers disease_Homo sapiens_hsa050101.72221782
19Morphine addiction_Homo sapiens_hsa050321.68857276
20Tryptophan metabolism_Homo sapiens_hsa003801.66346855
21Huntingtons disease_Homo sapiens_hsa050161.58830355
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.57187353
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.55025606
24RNA polymerase_Homo sapiens_hsa030201.47011850
25Homologous recombination_Homo sapiens_hsa034401.45467988
26Sulfur metabolism_Homo sapiens_hsa009201.44924064
27Caffeine metabolism_Homo sapiens_hsa002321.42361607
28Olfactory transduction_Homo sapiens_hsa047401.38115513
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.36292494
30Chemical carcinogenesis_Homo sapiens_hsa052041.35782208
31Retinol metabolism_Homo sapiens_hsa008301.30106530
32Selenocompound metabolism_Homo sapiens_hsa004501.30013363
33Serotonergic synapse_Homo sapiens_hsa047261.29816968
34Ether lipid metabolism_Homo sapiens_hsa005651.29503323
35Taste transduction_Homo sapiens_hsa047421.27281015
36Basal transcription factors_Homo sapiens_hsa030221.24185092
37Circadian entrainment_Homo sapiens_hsa047131.23857652
38Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.23423238
39Steroid hormone biosynthesis_Homo sapiens_hsa001401.22886189
40Insulin secretion_Homo sapiens_hsa049111.22660313
41Glutamatergic synapse_Homo sapiens_hsa047241.21476806
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.20966733
43Fanconi anemia pathway_Homo sapiens_hsa034601.20880170
44GABAergic synapse_Homo sapiens_hsa047271.20133675
45Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.19784027
46Sulfur relay system_Homo sapiens_hsa041221.13086334
47Butanoate metabolism_Homo sapiens_hsa006501.09314683
48RNA degradation_Homo sapiens_hsa030181.09252315
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05368698
50Arachidonic acid metabolism_Homo sapiens_hsa005901.01954886
51Peroxisome_Homo sapiens_hsa041460.99318777
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.96390727
53Asthma_Homo sapiens_hsa053100.96364440
54Glycerolipid metabolism_Homo sapiens_hsa005610.92921805
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86498853
56Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.84006358
57Cholinergic synapse_Homo sapiens_hsa047250.83622656
58Fat digestion and absorption_Homo sapiens_hsa049750.81396081
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.81253740
60Regulation of autophagy_Homo sapiens_hsa041400.76018008
61Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75639691
62Calcium signaling pathway_Homo sapiens_hsa040200.75059082
63Vitamin digestion and absorption_Homo sapiens_hsa049770.74761423
64Cocaine addiction_Homo sapiens_hsa050300.73790714
65Primary immunodeficiency_Homo sapiens_hsa053400.72328251
66Hedgehog signaling pathway_Homo sapiens_hsa043400.72240323
67Dopaminergic synapse_Homo sapiens_hsa047280.71863797
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.67603430
69Basal cell carcinoma_Homo sapiens_hsa052170.64834437
70Collecting duct acid secretion_Homo sapiens_hsa049660.64709240
71Salivary secretion_Homo sapiens_hsa049700.63111146
72Gastric acid secretion_Homo sapiens_hsa049710.62680590
73Ovarian steroidogenesis_Homo sapiens_hsa049130.62004749
74Primary bile acid biosynthesis_Homo sapiens_hsa001200.57016147
75ABC transporters_Homo sapiens_hsa020100.56042150
76One carbon pool by folate_Homo sapiens_hsa006700.55533736
77cAMP signaling pathway_Homo sapiens_hsa040240.54871531
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.54283066
79Renin secretion_Homo sapiens_hsa049240.52824102
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50359847
81Dorso-ventral axis formation_Homo sapiens_hsa043200.50211745
82Oxytocin signaling pathway_Homo sapiens_hsa049210.49377356
83Vascular smooth muscle contraction_Homo sapiens_hsa042700.48784677
84Amphetamine addiction_Homo sapiens_hsa050310.48711384
85Melanoma_Homo sapiens_hsa052180.46613284
86Metabolic pathways_Homo sapiens_hsa011000.45481758
87Type I diabetes mellitus_Homo sapiens_hsa049400.45184657
88Graft-versus-host disease_Homo sapiens_hsa053320.43508622
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43477948
90Axon guidance_Homo sapiens_hsa043600.43201306
91Purine metabolism_Homo sapiens_hsa002300.43091081
92Type II diabetes mellitus_Homo sapiens_hsa049300.42844549
93Mineral absorption_Homo sapiens_hsa049780.41022323
94Long-term depression_Homo sapiens_hsa047300.40524008
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40068782
96Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.39951509
97Autoimmune thyroid disease_Homo sapiens_hsa053200.37736802
98Rheumatoid arthritis_Homo sapiens_hsa053230.37475282
99beta-Alanine metabolism_Homo sapiens_hsa004100.36815168
100Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35337609

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