GJA1P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of epithelial cell polarity (GO:0090162)7.09242573
2pyrimidine nucleobase catabolic process (GO:0006208)6.68639496
3negative regulation of DNA-dependent DNA replication (GO:2000104)6.52910507
4maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)5.97780951
5iron coordination entity transport (GO:1901678)5.72141909
6protein polyglutamylation (GO:0018095)5.44557976
7nucleobase catabolic process (GO:0046113)5.36039278
8detection of temperature stimulus involved in sensory perception (GO:0050961)5.11837590
9detection of temperature stimulus involved in sensory perception of pain (GO:0050965)5.11837590
10very-low-density lipoprotein particle assembly (GO:0034379)5.06543773
11startle response (GO:0001964)4.62584619
12oxidative demethylation (GO:0070989)4.60327356
13axonemal dynein complex assembly (GO:0070286)4.51261648
14one-carbon compound transport (GO:0019755)4.47029413
15positive regulation of mitochondrial fission (GO:0090141)4.44902611
16ubiquinone biosynthetic process (GO:0006744)4.44732289
17protein K6-linked ubiquitination (GO:0085020)4.37883482
18negative regulation of cell cycle arrest (GO:0071157)4.29317581
19protein neddylation (GO:0045116)4.25277821
20ubiquinone metabolic process (GO:0006743)3.97832683
21peptide catabolic process (GO:0043171)3.96016822
22retinal cone cell development (GO:0046549)3.69692123
23response to acidic pH (GO:0010447)3.68705639
24regulation of action potential (GO:0098900)3.66644418
25detection of temperature stimulus (GO:0016048)3.66417406
26response to redox state (GO:0051775)3.62356489
27calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.58421028
28heparin biosynthetic process (GO:0030210)3.50961346
29heparin metabolic process (GO:0030202)3.50961346
30quinone biosynthetic process (GO:1901663)3.50724460
31regulation of short-term neuronal synaptic plasticity (GO:0048172)3.47410211
32arginine catabolic process (GO:0006527)3.43563796
33protein complex biogenesis (GO:0070271)3.41396377
34notochord development (GO:0030903)3.35759250
35regulation of protein polyubiquitination (GO:1902914)3.34572727
36regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.32213714
37GTP biosynthetic process (GO:0006183)3.29455903
38regulation of ARF protein signal transduction (GO:0032012)3.26950928
39establishment of mitochondrion localization (GO:0051654)3.26084952
40intraciliary transport (GO:0042073)3.24628686
41replication fork processing (GO:0031297)3.22413963
42dopamine transport (GO:0015872)3.20730475
43regulation of DNA-dependent DNA replication (GO:0090329)3.20644576
44uterus development (GO:0060065)3.20021801
45mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.13709314
46mitochondrial respiratory chain complex I assembly (GO:0032981)3.13709314
47NADH dehydrogenase complex assembly (GO:0010257)3.13709314
48regulation of centrosome duplication (GO:0010824)3.11879725
49layer formation in cerebral cortex (GO:0021819)3.06425261
50detection of mechanical stimulus involved in sensory perception (GO:0050974)3.06204022
51calcium ion-dependent exocytosis (GO:0017156)3.04375817
52axon extension (GO:0048675)3.04192567
53regulation of axon extension involved in axon guidance (GO:0048841)3.04127334
54mitochondrial respiratory chain complex assembly (GO:0033108)3.03418538
55mitochondrion degradation (GO:0000422)3.02341588
56regulation of centrosome cycle (GO:0046605)3.00549896
57UTP biosynthetic process (GO:0006228)2.99428760
58regulation of mitochondrial fission (GO:0090140)2.98995427
59negative regulation of synaptic transmission, GABAergic (GO:0032229)2.97115880
60retina layer formation (GO:0010842)2.91733163
61DNA demethylation (GO:0080111)2.91560416
62nitric oxide biosynthetic process (GO:0006809)2.91254121
63establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.89911524
64mitochondrion transport along microtubule (GO:0047497)2.89911524
65regulation of axon guidance (GO:1902667)2.86420490
66neuron projection extension (GO:1990138)2.84288983
67positive regulation of growth hormone secretion (GO:0060124)2.84087389
68regulation of glucokinase activity (GO:0033131)2.82274854
69regulation of hexokinase activity (GO:1903299)2.82274854
70neuronal action potential propagation (GO:0019227)2.80597955
71hindbrain development (GO:0030902)2.79440032
72endocytic recycling (GO:0032456)2.72887126
73positive regulation of glycoprotein biosynthetic process (GO:0010560)2.72398171
74cerebral cortex radially oriented cell migration (GO:0021799)2.72046759
75negative regulation of axon extension involved in axon guidance (GO:0048843)2.67921462
76behavioral response to nicotine (GO:0035095)2.67268121
77regulation of oxidative stress-induced neuron death (GO:1903203)2.66899169
78protein K11-linked deubiquitination (GO:0035871)2.65173069
79male meiosis (GO:0007140)2.62872096
80regulation of dopamine secretion (GO:0014059)2.62248685
81protein heterotetramerization (GO:0051290)2.61848652
82synaptic vesicle maturation (GO:0016188)2.61406337
83regulation of telomere maintenance (GO:0032204)2.58941406
84regulation of nuclear cell cycle DNA replication (GO:0033262)2.58888981
85positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.58464028
86positive regulation of axon extension (GO:0045773)2.58096410
87catecholamine transport (GO:0051937)2.56208334
88UTP metabolic process (GO:0046051)2.53203393
89positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.51079713
90cell proliferation in forebrain (GO:0021846)2.49520459
91synaptic transmission, glutamatergic (GO:0035249)2.48392198
92negative regulation of axon guidance (GO:1902668)2.47139225
93replicative senescence (GO:0090399)2.46494050
94synaptic transmission, cholinergic (GO:0007271)2.46366039
95arginine metabolic process (GO:0006525)2.44141404
96positive regulation of action potential (GO:0045760)2.43842921
97establishment of nucleus localization (GO:0040023)2.41979861
98establishment of cell polarity (GO:0030010)2.41366302
99negative regulation of reactive oxygen species metabolic process (GO:2000378)2.40199020
100response to pheromone (GO:0019236)12.7530323

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NR4A2_19515692_ChIP-ChIP_MN9D_Mouse4.77279996
2EZH2_22144423_ChIP-Seq_EOC_Human3.75858787
3GBX2_23144817_ChIP-Seq_PC3_Human3.19593592
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.08253775
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.07892756
6ZNF274_21170338_ChIP-Seq_K562_Hela2.99856710
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.56710711
8TP53_16413492_ChIP-PET_HCT116_Human2.49348889
9CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.44403706
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.22520868
11IGF1R_20145208_ChIP-Seq_DFB_Human2.19847594
12HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.15894721
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.13400421
14FUS_26573619_Chip-Seq_HEK293_Human2.13271619
15FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.09679620
16AHR_22903824_ChIP-Seq_MCF-7_Human1.96025370
17EWS_26573619_Chip-Seq_HEK293_Human1.93962438
18CBX2_27304074_Chip-Seq_ESCs_Mouse1.87918802
19TP63_19390658_ChIP-ChIP_HaCaT_Human1.86672730
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.79997346
21VDR_22108803_ChIP-Seq_LS180_Human1.79769356
22POU3F2_20337985_ChIP-ChIP_501MEL_Human1.69865011
23P300_19829295_ChIP-Seq_ESCs_Human1.66668621
24IRF1_19129219_ChIP-ChIP_H3396_Human1.64380600
25POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.64225182
26TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64225182
27ER_23166858_ChIP-Seq_MCF-7_Human1.61277291
28MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.59529012
29PCGF2_27294783_Chip-Seq_NPCs_Mouse1.58662820
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57463555
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55611522
32HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.55587484
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54224336
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51139208
35REST_21632747_ChIP-Seq_MESCs_Mouse1.45131471
36FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.44041010
37FLI1_27457419_Chip-Seq_LIVER_Mouse1.42622597
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.41116405
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40957796
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.38369107
41SMAD4_21799915_ChIP-Seq_A2780_Human1.36949677
42SOX9_26525672_Chip-Seq_HEART_Mouse1.34479152
43TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33412790
44TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.32031670
45HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.31078260
46SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30629429
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30540122
48JARID2_20064375_ChIP-Seq_MESCs_Mouse1.28192360
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28055484
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.26208067
51TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26073307
52STAT3_23295773_ChIP-Seq_U87_Human1.24550402
53EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.23073990
54CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.23056695
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22789464
56NFE2_27457419_Chip-Seq_LIVER_Mouse1.22244239
57KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.21124080
58TCF4_22108803_ChIP-Seq_LS180_Human1.20665531
59RNF2_27304074_Chip-Seq_NSC_Mouse1.20545741
60NR3C1_21868756_ChIP-Seq_MCF10A_Human1.19592852
61NANOG_18555785_Chip-Seq_ESCs_Mouse1.18168909
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15956270
63ETV2_25802403_ChIP-Seq_MESCs_Mouse1.15064871
64REST_18959480_ChIP-ChIP_MESCs_Mouse1.14130000
65SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.13943588
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13730248
67RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13292727
68EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13202640
69P53_22387025_ChIP-Seq_ESCs_Mouse1.11655142
70TAF15_26573619_Chip-Seq_HEK293_Human1.11157692
71EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.10806094
72TCF4_23295773_ChIP-Seq_U87_Human1.10419738
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.10260248
74PCGF2_27294783_Chip-Seq_ESCs_Mouse1.09541042
75PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.09540704
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07284759
77EZH2_27294783_Chip-Seq_NPCs_Mouse1.06574437
78SMAD3_21741376_ChIP-Seq_EPCs_Human1.06556167
79TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06257834
80EED_16625203_ChIP-ChIP_MESCs_Mouse1.04955000
81STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.04807345
82RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.03969242
83TP53_22573176_ChIP-Seq_HFKS_Human1.03663470
84TBX3_20139965_ChIP-Seq_ESCs_Mouse1.02828067
85E2F1_18555785_Chip-Seq_ESCs_Mouse1.01470460
86EZH2_27294783_Chip-Seq_ESCs_Mouse1.01237907
87TBX3_20139965_ChIP-Seq_MESCs_Mouse1.00639141
88HTT_18923047_ChIP-ChIP_STHdh_Human0.99355926
89RNF2_27304074_Chip-Seq_ESCs_Mouse0.99355059
90MYC_18940864_ChIP-ChIP_HL60_Human0.99051802
91NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98347044
92MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.97910888
93AR_25329375_ChIP-Seq_VCAP_Human0.97576145
94SMAD4_21741376_ChIP-Seq_EPCs_Human0.95807378
95RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.95178283
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.95119719
97TBL1_22424771_ChIP-Seq_293T_Human0.93795206
98KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93486478
99LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92573036
100CBP_20019798_ChIP-Seq_JUKART_Human0.91663205

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation4.60690598
2MP0005423_abnormal_somatic_nervous4.01529009
3MP0003787_abnormal_imprinting3.48813931
4MP0006072_abnormal_retinal_apoptosis3.34954665
5MP0003121_genomic_imprinting3.04188205
6MP0003123_paternal_imprinting3.00664778
7MP0002638_abnormal_pupillary_reflex2.75137134
8MP0003806_abnormal_nucleotide_metabolis2.63982994
9MP0005253_abnormal_eye_physiology2.52779579
10MP0003880_abnormal_central_pattern2.51942605
11MP0001529_abnormal_vocalization2.32606792
12MP0003890_abnormal_embryonic-extraembry2.12350505
13MP0002938_white_spotting2.07927195
14MP0000778_abnormal_nervous_system2.02854596
15MP0006276_abnormal_autonomic_nervous1.90228818
16MP0005386_behavior/neurological_phenoty1.86945252
17MP0004924_abnormal_behavior1.86945252
18MP0004270_analgesia1.81156589
19MP0003122_maternal_imprinting1.80718336
20MP0010386_abnormal_urinary_bladder1.78987255
21MP0002163_abnormal_gland_morphology1.74191124
22MP0005623_abnormal_meninges_morphology1.72999511
23MP0003283_abnormal_digestive_organ1.71913357
24MP0002102_abnormal_ear_morphology1.68665338
25MP0003950_abnormal_plasma_membrane1.68305594
26MP0002282_abnormal_trachea_morphology1.66487230
27MP0002822_catalepsy1.63193927
28MP0001485_abnormal_pinna_reflex1.62959417
29MP0004885_abnormal_endolymph1.61892372
30MP0001299_abnormal_eye_distance/1.58292169
31MP0000372_irregular_coat_pigmentation1.56114484
32MP0004133_heterotaxia1.54930661
33MP0005551_abnormal_eye_electrophysiolog1.54175055
34MP0003937_abnormal_limbs/digits/tail_de1.48479574
35MP0000647_abnormal_sebaceous_gland1.46575944
36MP0000015_abnormal_ear_pigmentation1.46183851
37MP0005220_abnormal_exocrine_pancreas1.44491294
38MP0005379_endocrine/exocrine_gland_phen1.42912326
39MP0002160_abnormal_reproductive_system1.41834119
40MP0004484_altered_response_of1.37479306
41MP0003195_calcinosis1.30322839
42MP0003567_abnormal_fetal_cardiomyocyte1.26827015
43MP0005195_abnormal_posterior_eye1.26544557
44MP0003119_abnormal_digestive_system1.23367708
45MP0003635_abnormal_synaptic_transmissio1.21272615
46MP0005391_vision/eye_phenotype1.18527864
47MP0001502_abnormal_circadian_rhythm1.17768666
48MP0009379_abnormal_foot_pigmentation1.16598525
49MP0002184_abnormal_innervation1.16159635
50MP0003186_abnormal_redox_activity1.14424335
51MP0005408_hypopigmentation1.13931432
52MP0002557_abnormal_social/conspecific_i1.13778380
53MP0000631_abnormal_neuroendocrine_gland1.13120355
54MP0006035_abnormal_mitochondrial_morpho1.10295098
55MP0001905_abnormal_dopamine_level1.08734630
56MP0002272_abnormal_nervous_system1.08193157
57MP0004145_abnormal_muscle_electrophysio1.07227013
58MP0004142_abnormal_muscle_tone1.06760053
59MP0000955_abnormal_spinal_cord1.05724838
60MP0001188_hyperpigmentation1.01870332
61MP0000470_abnormal_stomach_morphology1.01398975
62MP0002882_abnormal_neuron_morphology1.01379546
63MP0000049_abnormal_middle_ear0.99678350
64MP0003942_abnormal_urinary_system0.98068597
65MP0002752_abnormal_somatic_nervous0.95631881
66MP0005174_abnormal_tail_pigmentation0.93942628
67MP0005389_reproductive_system_phenotype0.93780890
68MP0000566_synostosis0.92492278
69MP0004859_abnormal_synaptic_plasticity0.92380642
70MP0008877_abnormal_DNA_methylation0.91932562
71MP0002063_abnormal_learning/memory/cond0.91756825
72MP0006292_abnormal_olfactory_placode0.90959087
73MP0002095_abnormal_skin_pigmentation0.89639849
74MP0004811_abnormal_neuron_physiology0.88631743
75MP0001440_abnormal_grooming_behavior0.86424819
76MP0000358_abnormal_cell_content/0.85661787
77MP0000427_abnormal_hair_cycle0.83362077
78MP0002572_abnormal_emotion/affect_behav0.81593281
79MP0005075_abnormal_melanosome_morpholog0.81567508
80MP0002734_abnormal_mechanical_nocicepti0.80772208
81MP0003959_abnormal_lean_body0.79972797
82MP0002653_abnormal_ependyma_morphology0.78199251
83MP0003698_abnormal_male_reproductive0.78189096
84MP0001293_anophthalmia0.76740720
85MP0002067_abnormal_sensory_capabilities0.76671816
86MP0002152_abnormal_brain_morphology0.75140837
87MP0009745_abnormal_behavioral_response0.75064187
88MP0002928_abnormal_bile_duct0.71003353
89MP0009250_abnormal_appendicular_skeleto0.70926699
90MP0009046_muscle_twitch0.70458020
91MP0005266_abnormal_metabolism0.69722496
92MP0004742_abnormal_vestibular_system0.69622031
93MP0001963_abnormal_hearing_physiology0.69060243
94MP0001756_abnormal_urination0.67789836
95MP0002109_abnormal_limb_morphology0.67374011
96MP0010030_abnormal_orbit_morphology0.66355164
97MP0005646_abnormal_pituitary_gland0.65135399
98MP0002932_abnormal_joint_morphology0.64435162
99MP0008775_abnormal_heart_ventricle0.64265868
100MP0002066_abnormal_motor_capabilities/c0.63610747

Predicted human phenotypes

RankGene SetZ-score
1Limb hypertonia (HP:0002509)4.78550225
2Aplasia/Hypoplasia of the fovea (HP:0008060)4.61646631
3Hypoplasia of the fovea (HP:0007750)4.61646631
4Abnormality of midbrain morphology (HP:0002418)3.94829869
5Molar tooth sign on MRI (HP:0002419)3.94829869
6Renal cortical cysts (HP:0000803)3.76840401
7Confusion (HP:0001289)3.67171600
8Prolonged neonatal jaundice (HP:0006579)3.54109633
9Abnormality of the fovea (HP:0000493)3.54015946
10Aplasia/Hypoplasia of the macula (HP:0008059)3.42379148
11Congenital stationary night blindness (HP:0007642)3.41072038
12Abnormal pancreas size (HP:0012094)3.34280379
13Volvulus (HP:0002580)3.30448100
14Enlarged kidneys (HP:0000105)3.29843653
15Bifid tongue (HP:0010297)3.26050762
16Tubular atrophy (HP:0000092)3.15508330
17Progressive cerebellar ataxia (HP:0002073)3.14449470
18Aplasia/Hypoplasia affecting the retina (HP:0008061)3.13589798
19Anterior segment dysgenesis (HP:0007700)3.11322456
20Increased hepatocellular lipid droplets (HP:0006565)3.09160373
21Abnormality of the renal cortex (HP:0011035)2.98376686
22Protruding tongue (HP:0010808)2.91432747
23Genetic anticipation (HP:0003743)2.90769598
24Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.79345873
25Lipid accumulation in hepatocytes (HP:0006561)2.74307249
26Amelogenesis imperfecta (HP:0000705)2.73169282
27Partial duplication of thumb phalanx (HP:0009944)2.63772576
28Occipital encephalocele (HP:0002085)2.56070813
29Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.54295484
30Drooling (HP:0002307)2.51399585
31Hyperglycinemia (HP:0002154)2.50333989
32Abnormality of the frontal sinuses (HP:0002687)2.49917615
33Absent frontal sinuses (HP:0002688)2.42048749
34Reticulocytosis (HP:0001923)2.38970726
35Tubulointerstitial nephritis (HP:0001970)2.34727216
36Narrow forehead (HP:0000341)2.32930960
37Tachypnea (HP:0002789)2.32714856
38Partial duplication of the phalanx of hand (HP:0009999)2.29962539
39Epileptic encephalopathy (HP:0200134)2.27302307
40Increased serum lactate (HP:0002151)2.26774291
41Abnormality of the renal medulla (HP:0100957)2.25986145
42Pancreatic fibrosis (HP:0100732)2.24539843
43Partial agenesis of the corpus callosum (HP:0001338)2.24006962
44Excessive salivation (HP:0003781)2.23920614
45Diastasis recti (HP:0001540)2.23761888
46Hepatic necrosis (HP:0002605)2.21774565
47Hyperventilation (HP:0002883)2.21408458
48Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.20209960
49Abnormality of alanine metabolism (HP:0010916)2.20209960
50Hyperalaninemia (HP:0003348)2.20209960
51Rectal fistula (HP:0100590)2.16554039
52Rectovaginal fistula (HP:0000143)2.16554039
53Hypoglycemic coma (HP:0001325)2.16503542
54Hypochromic microcytic anemia (HP:0004840)2.16285249
55Medial flaring of the eyebrow (HP:0010747)2.14941449
56Nephronophthisis (HP:0000090)2.14070300
57Neoplasm of the adrenal cortex (HP:0100641)2.13175056
58Chronic hepatic failure (HP:0100626)2.12811193
59Febrile seizures (HP:0002373)2.11753477
60Glycosuria (HP:0003076)2.10734133
61Abnormality of urine glucose concentration (HP:0011016)2.10734133
62Atonic seizures (HP:0010819)2.10494978
63Hepatoblastoma (HP:0002884)2.10241636
64Delayed CNS myelination (HP:0002188)2.08492470
65Abnormal mitochondria in muscle tissue (HP:0008316)2.06349203
66Acute encephalopathy (HP:0006846)2.04344707
67Status epilepticus (HP:0002133)2.03864675
68Focal seizures (HP:0007359)2.03693385
69Renal Fanconi syndrome (HP:0001994)2.03162217
70Highly arched eyebrow (HP:0002553)2.03060618
71Metaphyseal dysplasia (HP:0100255)2.02952019
72Respiratory distress (HP:0002098)1.98027580
73Macroglossia (HP:0000158)1.93434002
74Poikilocytosis (HP:0004447)1.91822876
75Open mouth (HP:0000194)1.91655539
76Aganglionic megacolon (HP:0002251)1.90704592
77Intellectual disability, severe (HP:0010864)1.89126073
78True hermaphroditism (HP:0010459)1.88386644
79Large eyes (HP:0001090)1.87995519
80Increased intramyocellular lipid droplets (HP:0012240)1.87246964
81Nephrogenic diabetes insipidus (HP:0009806)1.86557986
82Pancreatic cysts (HP:0001737)1.86005955
83Pachygyria (HP:0001302)1.85902548
84Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.84340962
85Decreased activity of mitochondrial respiratory chain (HP:0008972)1.84340962
86Increased CSF lactate (HP:0002490)1.84269707
87Hyperthyroidism (HP:0000836)1.83012155
88Synostosis involving the elbow (HP:0003938)1.82297778
89Humeroradial synostosis (HP:0003041)1.82297778
90Inability to walk (HP:0002540)1.82003072
91Hyperphosphaturia (HP:0003109)1.81869863
92Abnormality of reticulocytes (HP:0004312)1.81514041
93Small hand (HP:0200055)1.81258961
94Peritonitis (HP:0002586)1.80171362
95Abnormality of the phalanges of the hallux (HP:0010057)1.80102644
96Cortical dysplasia (HP:0002539)1.78921287
97Mitochondrial inheritance (HP:0001427)1.78731564
98Esotropia (HP:0000565)1.78260596
99EEG with generalized epileptiform discharges (HP:0011198)1.78225309
100Gait imbalance (HP:0002141)1.78211759

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK15.48865335
2MAP4K24.41170101
3CDK93.93343963
4WNK13.18190164
5BMPR1B2.71430542
6DDR22.65496745
7STK162.47403736
8ZAK2.31652644
9WNK32.12176348
10DYRK22.09323535
11FRK1.89038321
12AKT31.86121518
13MAP3K71.77863397
14PDK21.75478876
15MAP3K61.65508218
16NTRK21.63543388
17MKNK21.63368126
18MAP3K41.42515929
19DYRK31.42087163
20MARK11.42072950
21CDC42BPA1.40062144
22ACVR1B1.39441988
23SGK4941.35792013
24SGK2231.35792013
25TYRO31.35173188
26NEK21.27394904
27STK38L1.25175394
28MAP2K71.17998829
29NUAK11.17659881
30PRKCG1.09794679
31PKN11.08985501
32CDK81.06948149
33GRK11.06441982
34BUB11.04685898
35TGFBR11.03790089
36TAOK31.00735825
37BRD41.00376960
38VRK10.99520660
39PRKCH0.99280681
40SGK30.92183120
41MAPK110.88645118
42ATR0.88643691
43TAF10.87514433
44STK110.87352952
45ADRBK10.84959977
46PIK3CA0.83133241
47BRAF0.82274890
48SGK20.81407125
49MINK10.80404373
50PASK0.78955117
51OBSCN0.74037047
52EPHA40.73970894
53PAK30.72791630
54TTK0.71650698
55PBK0.70195229
56BCR0.67566380
57ADRBK20.66658069
58DYRK1B0.65850304
59STK390.64822796
60MKNK10.64330735
61CAMK40.61532518
62OXSR10.61327059
63WEE10.60929377
64CDK50.59472091
65ERBB30.59394710
66BCKDK0.58097511
67AURKB0.57825946
68CAMK10.57679690
69PTK2B0.55143472
70CHEK20.54650119
71MAP2K40.54248487
72TIE10.53953315
73NEK60.50952224
74STK30.50599826
75PLK20.48484802
76MATK0.47432158
77ICK0.47180825
78STK100.45342688
79PLK40.45150441
80CAMKK20.44851909
81PRKD20.43961219
82CHEK10.43544944
83ATM0.43157270
84PRKCQ0.42831196
85AKT10.39454679
86ARAF0.38953414
87PLK30.38857651
88CASK0.37503217
89PRKCZ0.37201637
90CAMK2A0.36277490
91PRKG10.35795901
92STK40.35751697
93PRKAA10.35069834
94PDGFRA0.34730972
95PIM10.34539455
96CSNK1G20.33393171
97CSNK1E0.32410745
98ABL10.32410514
99SGK10.31831370
100LATS10.31668588

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.06204857
2Sulfur relay system_Homo sapiens_hsa041222.79302933
3Steroid biosynthesis_Homo sapiens_hsa001002.70731851
4Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.69127769
5Glycosaminoglycan degradation_Homo sapiens_hsa005312.42392740
6Cardiac muscle contraction_Homo sapiens_hsa042602.33530145
7Parkinsons disease_Homo sapiens_hsa050122.20938263
8Oxidative phosphorylation_Homo sapiens_hsa001902.17146505
9Alzheimers disease_Homo sapiens_hsa050101.93877498
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.83680392
11Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.81843243
12Nicotine addiction_Homo sapiens_hsa050331.77753850
13Cocaine addiction_Homo sapiens_hsa050301.62476902
14Basal transcription factors_Homo sapiens_hsa030221.60411419
15Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.59259470
16Propanoate metabolism_Homo sapiens_hsa006401.58486785
17Butanoate metabolism_Homo sapiens_hsa006501.54729274
18Ribosome_Homo sapiens_hsa030101.52269427
19Huntingtons disease_Homo sapiens_hsa050161.51028101
20Peroxisome_Homo sapiens_hsa041461.47211644
21Amphetamine addiction_Homo sapiens_hsa050311.41722428
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.39399533
23Alcoholism_Homo sapiens_hsa050341.39394422
24Glutamatergic synapse_Homo sapiens_hsa047241.38497323
25Protein export_Homo sapiens_hsa030601.37748756
26Lysine degradation_Homo sapiens_hsa003101.36436126
27Insulin secretion_Homo sapiens_hsa049111.36049513
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.34786279
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.32128468
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.26883784
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.25105868
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.23197181
33Sulfur metabolism_Homo sapiens_hsa009201.19695634
34Homologous recombination_Homo sapiens_hsa034401.19136867
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.14596364
36Dopaminergic synapse_Homo sapiens_hsa047281.10486682
37Nitrogen metabolism_Homo sapiens_hsa009101.07988636
38Transcriptional misregulation in cancer_Homo sapiens_hsa052021.06712299
39Renin secretion_Homo sapiens_hsa049241.04578928
40Thyroid hormone synthesis_Homo sapiens_hsa049181.02761690
41Systemic lupus erythematosus_Homo sapiens_hsa053220.99996418
42GABAergic synapse_Homo sapiens_hsa047270.96750804
43Axon guidance_Homo sapiens_hsa043600.95727591
44alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.93782119
45Fanconi anemia pathway_Homo sapiens_hsa034600.92563683
46Cholinergic synapse_Homo sapiens_hsa047250.92261140
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.90577931
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.86744940
49Morphine addiction_Homo sapiens_hsa050320.86318579
50Selenocompound metabolism_Homo sapiens_hsa004500.85843117
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.84380667
52Phototransduction_Homo sapiens_hsa047440.81549821
53Gap junction_Homo sapiens_hsa045400.81262267
54Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79626218
55Hedgehog signaling pathway_Homo sapiens_hsa043400.78264075
56Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77801640
57Oxytocin signaling pathway_Homo sapiens_hsa049210.77502624
58RNA degradation_Homo sapiens_hsa030180.76372747
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72994234
60Glycerophospholipid metabolism_Homo sapiens_hsa005640.72655297
61Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.69837723
62Ovarian steroidogenesis_Homo sapiens_hsa049130.69623322
63Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66322747
64Circadian entrainment_Homo sapiens_hsa047130.66127591
65Gastric acid secretion_Homo sapiens_hsa049710.66049128
66RNA polymerase_Homo sapiens_hsa030200.64821169
67Linoleic acid metabolism_Homo sapiens_hsa005910.64805037
68VEGF signaling pathway_Homo sapiens_hsa043700.64441910
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64434646
70Basal cell carcinoma_Homo sapiens_hsa052170.64139670
71Long-term potentiation_Homo sapiens_hsa047200.63343538
72Hippo signaling pathway_Homo sapiens_hsa043900.62622782
73cAMP signaling pathway_Homo sapiens_hsa040240.60710837
74Salivary secretion_Homo sapiens_hsa049700.59571264
75Dilated cardiomyopathy_Homo sapiens_hsa054140.58787057
76Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.55123057
77p53 signaling pathway_Homo sapiens_hsa041150.54471572
78Sphingolipid metabolism_Homo sapiens_hsa006000.53720710
79Tight junction_Homo sapiens_hsa045300.52889872
80Glycerolipid metabolism_Homo sapiens_hsa005610.52831157
81Olfactory transduction_Homo sapiens_hsa047400.51925572
82Metabolic pathways_Homo sapiens_hsa011000.50297374
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.49849700
84Fatty acid biosynthesis_Homo sapiens_hsa000610.49760470
85Wnt signaling pathway_Homo sapiens_hsa043100.49143719
86Tryptophan metabolism_Homo sapiens_hsa003800.48966657
87Calcium signaling pathway_Homo sapiens_hsa040200.48557735
88Serotonergic synapse_Homo sapiens_hsa047260.48122626
89Long-term depression_Homo sapiens_hsa047300.47557825
90Taste transduction_Homo sapiens_hsa047420.46589174
91Dorso-ventral axis formation_Homo sapiens_hsa043200.46063671
92Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.45223113
93Steroid hormone biosynthesis_Homo sapiens_hsa001400.43494289
94Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.42957654
95Synaptic vesicle cycle_Homo sapiens_hsa047210.41568038
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.40937153
97Ether lipid metabolism_Homo sapiens_hsa005650.39365253
98Oocyte meiosis_Homo sapiens_hsa041140.39089509
99Melanogenesis_Homo sapiens_hsa049160.36572677
100Retinol metabolism_Homo sapiens_hsa008300.36226209

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