GJA8

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 transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)8.82740933
2* sensory perception of light stimulus (GO:0050953)8.73579714
3camera-type eye development (GO:0043010)8.17347719
4muscle cell cellular homeostasis (GO:0046716)7.80754228
5cytolysis (GO:0019835)7.59906352
6histone H3-K9 demethylation (GO:0033169)7.50136446
7regulation of protein sumoylation (GO:0033233)7.30887251
8protein refolding (GO:0042026)6.98820969
9eye development (GO:0001654)6.74602220
10bile acid and bile salt transport (GO:0015721)6.37755899
11myofibril assembly (GO:0030239)6.19940019
12cellular response to osmotic stress (GO:0071470)6.03293523
13negative regulation of homotypic cell-cell adhesion (GO:0034111)5.67643153
14sensory organ development (GO:0007423)5.25445785
15positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)5.16129617
16regulation of myoblast differentiation (GO:0045661)4.50028734
17response to salt stress (GO:0009651)4.46468746
18* sensory perception (GO:0007600)4.27981540
19insulin-like growth factor receptor signaling pathway (GO:0048009)4.27926135
20regulation of platelet aggregation (GO:0090330)4.20062820
21* lens development in camera-type eye (GO:0002088)33.5175836
22sarcomere organization (GO:0045214)3.96844794
23positive regulation of dendritic spine morphogenesis (GO:0061003)3.86334299
24protein homotrimerization (GO:0070207)3.74050929
25lung epithelium development (GO:0060428)3.57119154
26regulation of skeletal muscle fiber development (GO:0048742)3.51961799
27cellular response to calcium ion (GO:0071277)3.39216850
28cerebellar granule cell differentiation (GO:0021707)3.36717953
29regulation of Rac protein signal transduction (GO:0035020)3.34416639
30positive regulation of calcium ion transport into cytosol (GO:0010524)3.31513978
31water transport (GO:0006833)3.03632879
32lens fiber cell development (GO:0070307)26.5025398
33lens fiber cell differentiation (GO:0070306)21.6231631
34dopaminergic neuron differentiation (GO:0071542)2.91932147
35negative regulation of platelet activation (GO:0010544)2.91710006
36intermediate filament cytoskeleton organization (GO:0045104)2.76637372
37fluid transport (GO:0042044)2.74469047
38histone lysine demethylation (GO:0070076)2.69957949
39intermediate filament-based process (GO:0045103)2.67567504
40positive regulation of wound healing (GO:0090303)2.65607506
41regulation of homotypic cell-cell adhesion (GO:0034110)2.65239513
42histone demethylation (GO:0016577)2.56117945
43regulation of myotube differentiation (GO:0010830)2.51479972
44lung-associated mesenchyme development (GO:0060484)2.50449250
45epithelial cell development (GO:0002064)2.49414014
46response to activity (GO:0014823)2.47032437
47regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.44291432
48regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.30556231
49protein dealkylation (GO:0008214)2.29478048
50protein demethylation (GO:0006482)2.29478048
51regulation of non-canonical Wnt signaling pathway (GO:2000050)2.29211351
52regulation of sarcomere organization (GO:0060297)2.25677707
53positive regulation of dendritic spine development (GO:0060999)2.24810932
54actomyosin structure organization (GO:0031032)2.23055392
55skeletal muscle organ development (GO:0060538)2.21422978
56kidney morphogenesis (GO:0060993)2.20931945
57neuronal stem cell maintenance (GO:0097150)2.16178925
58metanephric tubule development (GO:0072170)2.09045254
59metanephric nephron tubule development (GO:0072234)2.09045254
60cartilage morphogenesis (GO:0060536)2.08126057
61mating behavior (GO:0007617)2.07904936
62diaphragm development (GO:0060539)2.04663073
63negative regulation of hormone metabolic process (GO:0032351)2.04580656
64negative regulation of hormone biosynthetic process (GO:0032353)2.04580656
65negative regulation of osteoblast proliferation (GO:0033689)2.03236549
66activation of JUN kinase activity (GO:0007257)2.03084798
67positive regulation of developmental growth (GO:0048639)2.02669285
68respiratory tube development (GO:0030323)2.01825725
69cell maturation (GO:0048469)2.00831380
70lens morphogenesis in camera-type eye (GO:0002089)10.7119911
71response to muscle activity (GO:0014850)10.0615888
72prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.99977406
73cellular response to prostaglandin stimulus (GO:0071379)1.98360133
74positive regulation of dendrite morphogenesis (GO:0050775)1.98351632
75cellular response to vitamin D (GO:0071305)1.97488291
76bone trabecula formation (GO:0060346)1.96952206
77axon extension involved in axon guidance (GO:0048846)1.94005813
78neuron projection extension involved in neuron projection guidance (GO:1902284)1.94005813
79response to osmotic stress (GO:0006970)1.92476837
80regulation of skeletal muscle tissue development (GO:0048641)1.91016740
81regulation of striated muscle cell differentiation (GO:0051153)1.90301062
82regulation of platelet activation (GO:0010543)1.87672555
83forebrain neuron development (GO:0021884)1.87134355
84protein localization to cell surface (GO:0034394)1.86973285
85L-alpha-amino acid transmembrane transport (GO:1902475)1.85665629
86metanephric nephron epithelium development (GO:0072243)1.83988453
87protein trimerization (GO:0070206)1.81349976
88regulation of calcium ion transport into cytosol (GO:0010522)1.81137648
89regulation of dendritic spine morphogenesis (GO:0061001)1.80997557
90regulation of bile acid biosynthetic process (GO:0070857)1.80975980
91hepatocyte differentiation (GO:0070365)1.77978994
92response to auditory stimulus (GO:0010996)1.74423015
93cell-cell junction assembly (GO:0007043)1.72221434
94synaptic vesicle docking involved in exocytosis (GO:0016081)1.70790862
95regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act1.70282655
96cell proliferation in forebrain (GO:0021846)1.69574175
97primary amino compound metabolic process (GO:1901160)1.68784385
98axonal fasciculation (GO:0007413)1.68162885
99metanephric epithelium development (GO:0072207)1.67862293
100negative regulation of axon extension involved in axon guidance (GO:0048843)1.67062220

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse8.32017885
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.60978517
3ZNF652_21678463_ChIP-ChIP_ZR75-1_Human3.58863220
4PCGF2_27294783_Chip-Seq_NPCs_Mouse3.47067901
5CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.14338077
6IKZF1_21737484_ChIP-ChIP_HCT116_Human2.89278807
7EZH2_22144423_ChIP-Seq_EOC_Human2.88767914
8SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.69020058
9NFE2_27457419_Chip-Seq_LIVER_Mouse2.50534587
10SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.48668870
11SUZ12_27294783_Chip-Seq_NPCs_Mouse2.44531735
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.35175983
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.34094123
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.27717318
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.19472472
16EZH2_18974828_ChIP-Seq_MESCs_Mouse2.19472472
17SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.15651233
18EGR1_19032775_ChIP-ChIP_M12_Human2.12181845
19CBX2_27304074_Chip-Seq_ESCs_Mouse2.09329422
20SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.08443330
21EZH2_27294783_Chip-Seq_NPCs_Mouse2.01226702
22BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.93371742
23EZH2_27304074_Chip-Seq_ESCs_Mouse1.87400549
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.85426628
25RUNX1_27457419_Chip-Seq_LIVER_Mouse1.80772107
26GBX2_23144817_ChIP-Seq_PC3_Human1.80132154
27EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.77538687
28CTCF_18555785_Chip-Seq_ESCs_Mouse1.73203845
29JARID2_20075857_ChIP-Seq_MESCs_Mouse1.71621407
30SMAD1_18555785_Chip-Seq_ESCs_Mouse1.70044343
31EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.65436492
32P53_22387025_ChIP-Seq_ESCs_Mouse1.64231961
33PU1_27457419_Chip-Seq_LIVER_Mouse1.63438636
34IGF1R_20145208_ChIP-Seq_DFB_Human1.62992310
35EZH2_27294783_Chip-Seq_ESCs_Mouse1.61526146
36MTF2_20144788_ChIP-Seq_MESCs_Mouse1.60118563
37PCGF2_27294783_Chip-Seq_ESCs_Mouse1.59493427
38CDX2_19796622_ChIP-Seq_MESCs_Mouse1.57255869
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56424970
40SOX2_18555785_Chip-Seq_ESCs_Mouse1.44664208
41NANOG_16153702_ChIP-ChIP_HESCs_Human1.43025602
42ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.41638490
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41239455
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.41234240
45GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.35791571
46KLF4_18555785_Chip-Seq_ESCs_Mouse1.33930615
47SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.32870120
48ZFX_18555785_Chip-Seq_ESCs_Mouse1.32348017
49CMYC_18555785_Chip-Seq_ESCs_Mouse1.32103724
50P300_18555785_Chip-Seq_ESCs_Mouse1.30950212
51VDR_22108803_ChIP-Seq_LS180_Human1.28127090
52BMI1_23680149_ChIP-Seq_NPCS_Mouse1.28003752
53CRX_20693478_ChIP-Seq_RETINA_Mouse1.27668084
54CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.25415732
55TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.25106159
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.24278173
57OCT4_21477851_ChIP-Seq_ESCs_Mouse1.24088197
58MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23313986
59SUZ12_27294783_Chip-Seq_ESCs_Mouse1.22479700
60FUS_26573619_Chip-Seq_HEK293_Human1.22307978
61STAT3_18555785_Chip-Seq_ESCs_Mouse1.21980988
62ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20900022
63CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.19223860
64LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.17952032
65SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.17779885
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14605303
67NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12817023
68SALL4_22934838_ChIP-ChIP_CD34+_Human1.11208224
69TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08161618
70TBX3_20139965_ChIP-Seq_ESCs_Mouse1.07619738
71SOX2_22085726_ChIP-Seq_NPCs_Mouse1.07564203
72TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07423580
73NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.06964528
74TP53_20018659_ChIP-ChIP_R1E_Mouse1.05700625
75* E2F1_18555785_Chip-Seq_ESCs_Mouse1.05093574
76FLI1_27457419_Chip-Seq_LIVER_Mouse1.03727786
77SOX2_21211035_ChIP-Seq_LN229_Gbm1.03346597
78NR3C1_23031785_ChIP-Seq_PC12_Mouse1.01184483
79GATA3_24758297_ChIP-Seq_MCF-7_Human1.00241674
80P300_19829295_ChIP-Seq_ESCs_Human0.99298176
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99090999
82EP300_21415370_ChIP-Seq_HL-1_Mouse0.99029070
83RING1B_27294783_Chip-Seq_NPCs_Mouse0.98669511
84SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.98500511
85ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98429085
86RING1B_27294783_Chip-Seq_ESCs_Mouse0.98097990
87JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96217872
88TP53_18474530_ChIP-ChIP_U2OS_Human0.96190798
89GATA1_22025678_ChIP-Seq_K562_Human0.96001371
90OCT4_18555785_Chip-Seq_ESCs_Mouse0.95015198
91SMAD3_21741376_ChIP-Seq_ESCs_Human0.94589407
92TCF4_23295773_ChIP-Seq_U87_Human0.91304251
93GATA2_21666600_ChIP-Seq_HMVEC_Human0.89280437
94ESRRB_18555785_Chip-Seq_ESCs_Mouse0.88691111
95TOP2B_26459242_ChIP-Seq_MCF-7_Human0.88588755
96NANOG_18555785_Chip-Seq_ESCs_Mouse0.88542103
97PIAS1_25552417_ChIP-Seq_VCAP_Human0.87739647
98TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.85832643
99JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85723548
100OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84439141

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye9.12223793
2MP0003941_abnormal_skin_development4.05197129
3* MP0005253_abnormal_eye_physiology3.99686219
4MP0005197_abnormal_uvea_morphology3.99608826
5MP0000749_muscle_degeneration3.84179657
6* MP0001286_abnormal_eye_development3.33695358
7* MP0005391_vision/eye_phenotype2.70659599
8* MP0002092_abnormal_eye_morphology2.64543682
9MP0001346_abnormal_lacrimal_gland2.63911967
10MP0002090_abnormal_vision2.51913015
11* MP0002697_abnormal_eye_size13.9571990
12MP0002108_abnormal_muscle_morphology1.83853385
13MP0002735_abnormal_chemical_nociception1.80131004
14MP0002638_abnormal_pupillary_reflex1.79543196
15MP0004272_abnormal_basement_membrane1.37271197
16MP0006292_abnormal_olfactory_placode1.34486738
17MP0002736_abnormal_nociception_after1.33737205
18MP0005330_cardiomyopathy1.29183037
19MP0005195_abnormal_posterior_eye1.24056769
20MP0001299_abnormal_eye_distance/1.23734725
21MP0002269_muscular_atrophy1.20101929
22MP0010368_abnormal_lymphatic_system1.10027516
23MP0001968_abnormal_touch/_nociception1.09644250
24MP0003787_abnormal_imprinting1.04415841
25MP0000049_abnormal_middle_ear0.96810796
26MP0000566_synostosis0.95766891
27MP0004859_abnormal_synaptic_plasticity0.92366967
28MP0002734_abnormal_mechanical_nocicepti0.88889243
29MP0001340_abnormal_eyelid_morphology0.84552984
30MP0003635_abnormal_synaptic_transmissio0.70155805
31MP0002249_abnormal_larynx_morphology0.66724943
32MP0003136_yellow_coat_color0.65611957
33MP0001905_abnormal_dopamine_level0.65462491
34MP0001502_abnormal_circadian_rhythm0.64186447
35MP0009780_abnormal_chondrocyte_physiolo0.63962842
36MP0002063_abnormal_learning/memory/cond0.63596027
37MP0005369_muscle_phenotype0.63009356
38MP0005248_abnormal_Harderian_gland0.59407236
39MP0005319_abnormal_enzyme/_coenzyme0.59014473
40MP0005257_abnormal_intraocular_pressure0.58719046
41MP0001486_abnormal_startle_reflex0.56694153
42MP0005171_absent_coat_pigmentation0.52685807
43MP0009250_abnormal_appendicular_skeleto0.51655484
44MP0002064_seizures0.51351705
45MP0002089_abnormal_postnatal_growth/wei0.51113555
46MP0009745_abnormal_behavioral_response0.48795562
47MP0004134_abnormal_chest_morphology0.48585080
48MP0002184_abnormal_innervation0.46579907
49MP0002572_abnormal_emotion/affect_behav0.46484227
50MP0005647_abnormal_sex_gland0.45772823
51MP0002163_abnormal_gland_morphology0.45435279
52MP0002177_abnormal_outer_ear0.44835893
53MP0004087_abnormal_muscle_fiber0.44515714
54MP0003880_abnormal_central_pattern0.44114480
55MP0002733_abnormal_thermal_nociception0.43862991
56MP0002067_abnormal_sensory_capabilities0.43731798
57MP0000759_abnormal_skeletal_muscle0.43369617
58MP0001324_abnormal_eye_pigmentation0.42956562
59MP0000778_abnormal_nervous_system0.41926951
60MP0003942_abnormal_urinary_system0.39851667
61MP0001188_hyperpigmentation0.39710415
62MP0004270_analgesia0.39660957
63MP0009046_muscle_twitch0.37698063
64MP0001943_abnormal_respiration0.37608431
65MP0003123_paternal_imprinting0.35822712
66MP0002272_abnormal_nervous_system0.34998320
67MP0001970_abnormal_pain_threshold0.33564253
68MP0001958_emphysema0.33316066
69MP0000955_abnormal_spinal_cord0.32595273
70MP0002139_abnormal_hepatobiliary_system0.32305513
71MP0001879_abnormal_lymphatic_vessel0.31422822
72MP0001915_intracranial_hemorrhage0.31210670
73MP0003252_abnormal_bile_duct0.30967521
74MP0005670_abnormal_white_adipose0.30896338
75MP0000751_myopathy0.29795484
76MP0002277_abnormal_respiratory_mucosa0.29341621
77MP0009697_abnormal_copulation0.28798710
78MP0004811_abnormal_neuron_physiology0.28113085
79MP0002557_abnormal_social/conspecific_i0.27737186
80MP0002152_abnormal_brain_morphology0.26816523
81MP0004885_abnormal_endolymph0.26280564
82MP0003122_maternal_imprinting0.25024904
83MP0002882_abnormal_neuron_morphology0.24935661
84MP0002876_abnormal_thyroid_physiology0.24665354
85MP0002066_abnormal_motor_capabilities/c0.24550400
86MP0003879_abnormal_hair_cell0.22988648
87MP0003656_abnormal_erythrocyte_physiolo0.22146727
88MP0002933_joint_inflammation0.21977822
89MP0002653_abnormal_ependyma_morphology0.21580398
90MP0005595_abnormal_vascular_smooth0.21471321
91MP0002069_abnormal_eating/drinking_beha0.21443571
92MP0003115_abnormal_respiratory_system0.20799778
93* MP0005551_abnormal_eye_electrophysiolog0.20725422
94MP0008260_abnormal_autophagy0.20698567
95MP0000428_abnormal_craniofacial_morphol0.20693779
96MP0002116_abnormal_craniofacial_bone0.20090343
97MP0003121_genomic_imprinting0.19107300
98MP0009764_decreased_sensitivity_to0.18732262
99MP0003137_abnormal_impulse_conducting0.18687595
100MP0003959_abnormal_lean_body0.18213045

Predicted human phenotypes

RankGene SetZ-score
1Amblyopia (HP:0000646)7.50923300
2* Congenital cataract (HP:0000519)7.39753289
3* Corneal dystrophy (HP:0001131)6.84218570
4Anterior segment dysgenesis (HP:0007700)6.49295004
5Polar cataract (HP:0010696)4.65913659
6Clumsiness (HP:0002312)4.23019333
7* Microcornea (HP:0000482)3.40416902
8Eosinophilia (HP:0001880)3.30644029
9* Nuclear cataract (HP:0100018)26.5303916
10* Zonular cataract (HP:0010920)24.7686709
11* Iris coloboma (HP:0000612)2.69406984
12Abnormality of the anterior chamber (HP:0000593)2.65520463
13Granulocytopenia (HP:0001913)2.60999787
14Sclerocornea (HP:0000647)2.59866034
15Congenital primary aphakia (HP:0007707)2.59331892
16* Opacification of the corneal stroma (HP:0007759)2.46537091
17Abnormality of eosinophils (HP:0001879)2.25938117
18Aplasia/Hypoplasia of the lens (HP:0008063)2.15377250
19Proximal amyotrophy (HP:0007126)2.14778499
20Scapular winging (HP:0003691)2.11075301
21Fetal akinesia sequence (HP:0001989)1.92596053
22Aplasia/Hypoplasia of the macula (HP:0008059)1.91564211
23Posterior subcapsular cataract (HP:0007787)1.83061468
24Popliteal pterygium (HP:0009756)1.79950975
25Neonatal respiratory distress (HP:0002643)1.78063726
26Aplasia of the musculature (HP:0100854)1.77320221
27Aplasia/Hypoplasia affecting the retina (HP:0008061)1.75118524
28Long clavicles (HP:0000890)1.65322368
29Akinesia (HP:0002304)1.57539712
30Hypoplastic nipples (HP:0002557)1.47074063
31Leukocytosis (HP:0001974)1.45407217
32Abnormality of placental membranes (HP:0011409)1.44298406
33Amniotic constriction ring (HP:0009775)1.44298406
34Difficulty walking (HP:0002355)1.30905135
35Abnormality of the shoulder girdle musculature (HP:0001435)1.26211947
36Symphalangism affecting the phalanges of the hand (HP:0009773)1.18450509
37Rib fusion (HP:0000902)1.16135715
38Chorioretinal coloboma (HP:0000567)1.10712362
39Abnormality of the labia majora (HP:0012881)1.05983680
40Subcapsular cataract (HP:0000523)1.03159147
41Fused cervical vertebrae (HP:0002949)0.96933901
42Severe visual impairment (HP:0001141)0.96079940
43Aplasia/Hypoplasia involving the musculature (HP:0001460)0.94756504
44Vertebral clefting (HP:0008428)0.91979837
45Malignant hyperthermia (HP:0002047)0.87675926
46Hypoplastic heart (HP:0001961)0.86871896
47Exostoses (HP:0100777)0.82623373
48Thin ribs (HP:0000883)0.79481487
49Pterygium (HP:0001059)0.78973459
50Split foot (HP:0001839)0.73077736
51Abnormality of incisor morphology (HP:0011063)0.72764500
52Abnormal number of incisors (HP:0011064)0.72741597
53Cystic hygroma (HP:0000476)0.71592174
54Diminished movement (HP:0002374)0.69462667
55Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.66012765
56Camptodactyly of toe (HP:0001836)0.63088022
57Broad nasal tip (HP:0000455)0.62573583
58Focal motor seizures (HP:0011153)0.62026244
59Enlarged kidneys (HP:0000105)0.61923158
60Aplasia/Hypoplasia of the nipples (HP:0006709)0.60520831
61Neonatal hypoglycemia (HP:0001998)0.58464295
62Submucous cleft hard palate (HP:0000176)0.58305154
63Abnormality of the labia (HP:0000058)0.56667054
64Patellar aplasia (HP:0006443)0.56591157
65Oligodactyly (hands) (HP:0001180)0.56160072
66Neoplasm of the heart (HP:0100544)0.55359795
67Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.55001311
68Hyperventilation (HP:0002883)0.54136861
69Hypoplastic pelvis (HP:0008839)0.54124435
70Abnormality of the humeroradial joint (HP:0100744)0.54011623
71Dislocated radial head (HP:0003083)0.53454826
72Lymphangioma (HP:0100764)0.53162682
73Abnormality of the radial head (HP:0003995)0.52518629
74Scrotal hypoplasia (HP:0000046)0.52335340
75Short thorax (HP:0010306)0.51510461
76Metaphyseal dysplasia (HP:0100255)0.51264646
77Abnormality of cochlea (HP:0000375)0.50582258
78Febrile seizures (HP:0002373)0.49565477
79Fibular aplasia (HP:0002990)0.48408796
80Aplasia/Hypoplasia of the patella (HP:0006498)0.48376285
81Hypoplasia of the fovea (HP:0007750)0.48375402
82Aplasia/Hypoplasia of the fovea (HP:0008060)0.48375402
83Joint contractures involving the joints of the feet (HP:0100492)0.48183706
84Flexion contracture of toe (HP:0005830)0.48183706
85Telecanthus (HP:0000506)0.47559338
86* Autosomal dominant inheritance (HP:0000006)0.46902885
87Atelectasis (HP:0100750)0.44903905
88Synostosis involving the elbow (HP:0003938)0.44874924
89Humeroradial synostosis (HP:0003041)0.44874924
90Abnormality of the incisor (HP:0000676)0.44777499
91Bell-shaped thorax (HP:0001591)0.44150010
92Pointed chin (HP:0000307)0.44138341
93Hemiplegia (HP:0002301)0.42245866
94Adrenal hypoplasia (HP:0000835)0.41898006
95Epileptic encephalopathy (HP:0200134)0.41613217
96Exercise-induced myalgia (HP:0003738)0.41415218
97Abnormality of the nasal septum (HP:0000419)0.40874798
98Hepatoblastoma (HP:0002884)0.40854256
99Thickened helices (HP:0000391)0.39714232
100Hyperthyroidism (HP:0000836)0.38654398

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.02314157
2BLK5.54100345
3SGK14.29082749
4CASK3.14798399
5MST42.86289195
6PRKG12.63375520
7FLT32.58744000
8STK392.36819180
9NTRK12.32300238
10WNK42.31456935
11SIK12.13923605
12TNIK2.08458634
13MKNK21.82965801
14IGF1R1.70277349
15PRKCB1.64000595
16EPHA41.46698812
17MAPK101.37453299
18INSR1.35082843
19NTRK31.33698759
20EPHB21.30663247
21INSRR1.17806016
22PRKACB1.13824105
23MET1.09655510
24ZAP701.06790730
25SGK2231.04174229
26SGK4941.04174229
27WNK11.01990225
28ERBB21.01819347
29PDGFRA0.99695117
30PKN10.98105268
31RPS6KA30.97900904
32MKNK10.97203168
33PRKCQ0.94565352
34PLK20.88593185
35CAMKK10.86510566
36LATS10.86092529
37EIF2AK20.86004294
38MAP2K70.84262267
39MAP3K120.83255349
40MAP3K40.77647741
41PKN20.72872360
42ERBB30.71753045
43PRKACG0.71017155
44BCR0.70957217
45AKT30.70576845
46CDK60.69792343
47CSF1R0.69199330
48MAP3K140.66017318
49PRKCE0.66004122
50PHKG20.65477378
51PHKG10.65477378
52CAMKK20.64533045
53RIPK40.61911573
54SIK30.61575505
55PRPF4B0.61379908
56JAK30.59682512
57CAMK1G0.58751868
58NTRK20.57593142
59RPS6KA20.55543924
60ROCK20.54938619
61ADRBK10.54613022
62PRKCG0.53388200
63IRAK40.53069049
64STK100.50867615
65PAK40.49569690
66IRAK20.48161317
67BRD40.46262673
68YES10.45137615
69MAPK130.42734947
70CDK50.40065542
71DAPK20.39246176
72PTK60.39032499
73ICK0.38652999
74SGK20.37681365
75TBK10.37520992
76MINK10.37398968
77FGFR10.36619339
78ROCK10.36191932
79PTK20.34525871
80KSR10.34203164
81PRKCA0.33592727
82JAK10.32996965
83PAK30.32454597
84EPHA20.32028307
85AKT20.30445887
86RPS6KB10.29802273
87PRKACA0.29150969
88NEK90.29030148
89CSNK2A20.28644420
90DYRK20.27646566
91FER0.27217352
92MARK10.26864221
93LRRK20.26611407
94MAP2K40.26605589
95SYK0.26325427
96PAK60.26035868
97EGFR0.25935072
98PTK2B0.23072369
99BMPR20.21885858
100PRKCH0.21501331

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.81698455
2Synaptic vesicle cycle_Homo sapiens_hsa047212.60732521
3Small cell lung cancer_Homo sapiens_hsa052222.29702145
4Hedgehog signaling pathway_Homo sapiens_hsa043402.27113450
5Basal cell carcinoma_Homo sapiens_hsa052172.26836277
6Olfactory transduction_Homo sapiens_hsa047402.23748076
7Circadian entrainment_Homo sapiens_hsa047132.14107345
8GABAergic synapse_Homo sapiens_hsa047272.07544384
9Morphine addiction_Homo sapiens_hsa050322.06485295
10Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.94358900
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.91456016
12Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.81883186
13Collecting duct acid secretion_Homo sapiens_hsa049661.71176082
14Melanogenesis_Homo sapiens_hsa049161.62440499
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.53624599
16Glutamatergic synapse_Homo sapiens_hsa047241.52259802
17ECM-receptor interaction_Homo sapiens_hsa045121.51810044
18Vibrio cholerae infection_Homo sapiens_hsa051101.46641303
19Adherens junction_Homo sapiens_hsa045201.37634679
20Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.34320667
21Insulin secretion_Homo sapiens_hsa049111.32732048
22Axon guidance_Homo sapiens_hsa043601.32110919
23Wnt signaling pathway_Homo sapiens_hsa043101.29871951
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.27848299
25Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.22078884
26Rheumatoid arthritis_Homo sapiens_hsa053231.20578005
27Cholinergic synapse_Homo sapiens_hsa047251.20006415
28Serotonergic synapse_Homo sapiens_hsa047261.18564343
29Taste transduction_Homo sapiens_hsa047421.10020663
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.09950347
31Central carbon metabolism in cancer_Homo sapiens_hsa052301.09696798
32Type II diabetes mellitus_Homo sapiens_hsa049301.08993317
33ErbB signaling pathway_Homo sapiens_hsa040121.07681769
34Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.06942213
35Protein digestion and absorption_Homo sapiens_hsa049741.04246365
36Phototransduction_Homo sapiens_hsa047441.03683107
37mTOR signaling pathway_Homo sapiens_hsa041501.02165801
38Phagosome_Homo sapiens_hsa041451.02073392
39Amoebiasis_Homo sapiens_hsa051461.01818278
40Insulin signaling pathway_Homo sapiens_hsa049101.01817453
41Circadian rhythm_Homo sapiens_hsa047101.01662567
42Long-term potentiation_Homo sapiens_hsa047200.98459257
43Dopaminergic synapse_Homo sapiens_hsa047280.96550591
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95157263
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.94952529
46AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93409423
47Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.88819585
48Calcium signaling pathway_Homo sapiens_hsa040200.87558594
49Long-term depression_Homo sapiens_hsa047300.87079973
50Amphetamine addiction_Homo sapiens_hsa050310.86011402
51Glioma_Homo sapiens_hsa052140.85672288
52Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.83461362
53Salivary secretion_Homo sapiens_hsa049700.82908784
54Pathways in cancer_Homo sapiens_hsa052000.82783823
55Ether lipid metabolism_Homo sapiens_hsa005650.82141263
56Hippo signaling pathway_Homo sapiens_hsa043900.81621579
57Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.80905747
58Type I diabetes mellitus_Homo sapiens_hsa049400.80689495
59Glucagon signaling pathway_Homo sapiens_hsa049220.79991572
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.77093823
61Arginine and proline metabolism_Homo sapiens_hsa003300.76248820
62Inositol phosphate metabolism_Homo sapiens_hsa005620.75710136
63Proteoglycans in cancer_Homo sapiens_hsa052050.75421722
64Legionellosis_Homo sapiens_hsa051340.75253866
65Cocaine addiction_Homo sapiens_hsa050300.73777481
66Oxytocin signaling pathway_Homo sapiens_hsa049210.73528970
67Toxoplasmosis_Homo sapiens_hsa051450.73079852
68Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72838410
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.72220056
70Renin secretion_Homo sapiens_hsa049240.71292146
71Dorso-ventral axis formation_Homo sapiens_hsa043200.69235156
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.65858308
73Gap junction_Homo sapiens_hsa045400.65160704
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.61794492
75Focal adhesion_Homo sapiens_hsa045100.58841665
76Chemokine signaling pathway_Homo sapiens_hsa040620.58718564
77Rap1 signaling pathway_Homo sapiens_hsa040150.57992905
78Dilated cardiomyopathy_Homo sapiens_hsa054140.57003903
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56747160
80PI3K-Akt signaling pathway_Homo sapiens_hsa041510.56067668
81Maturity onset diabetes of the young_Homo sapiens_hsa049500.52847666
82Aldosterone synthesis and secretion_Homo sapiens_hsa049250.51890738
83Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.51857042
84cGMP-PKG signaling pathway_Homo sapiens_hsa040220.51823497
85Ras signaling pathway_Homo sapiens_hsa040140.51019754
86Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.50077212
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49990779
88Staphylococcus aureus infection_Homo sapiens_hsa051500.49261366
89Gastric acid secretion_Homo sapiens_hsa049710.48106486
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47305916
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46152841
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45181627
93Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44801926
94beta-Alanine metabolism_Homo sapiens_hsa004100.43025291
95Sulfur metabolism_Homo sapiens_hsa009200.41485335
96Choline metabolism in cancer_Homo sapiens_hsa052310.39959047
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.38154028
98Chronic myeloid leukemia_Homo sapiens_hsa052200.37990623
99MAPK signaling pathway_Homo sapiens_hsa040100.37291061
100Neurotrophin signaling pathway_Homo sapiens_hsa047220.34575378

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