GJB7

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: Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.77931806
2epithelial cilium movement (GO:0003351)5.06474237
3establishment of protein localization to mitochondrial membrane (GO:0090151)5.04999262
4ATP synthesis coupled proton transport (GO:0015986)4.87625647
5energy coupled proton transport, down electrochemical gradient (GO:0015985)4.87625647
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.48408716
7axonemal dynein complex assembly (GO:0070286)4.47817893
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.43582975
9cilium movement (GO:0003341)4.40654283
10protein complex biogenesis (GO:0070271)3.95630963
11respiratory electron transport chain (GO:0022904)3.86834859
12electron transport chain (GO:0022900)3.83542109
13mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.82874236
14mitochondrial respiratory chain complex I assembly (GO:0032981)3.82874236
15NADH dehydrogenase complex assembly (GO:0010257)3.82874236
16platelet dense granule organization (GO:0060155)3.73051955
17mitochondrial respiratory chain complex assembly (GO:0033108)3.67603667
18protein-cofactor linkage (GO:0018065)3.66682613
19sequestering of actin monomers (GO:0042989)3.62702679
20behavioral response to nicotine (GO:0035095)3.48662095
21regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.48543509
22regulation of mitotic spindle checkpoint (GO:1903504)3.48543509
23cilium or flagellum-dependent cell motility (GO:0001539)3.43231904
24intraciliary transport (GO:0042073)3.39864086
25cullin deneddylation (GO:0010388)3.37308014
26inner mitochondrial membrane organization (GO:0007007)3.34106013
27proteasome assembly (GO:0043248)3.30416449
28DNA integration (GO:0015074)3.28501823
29microtubule depolymerization (GO:0007019)3.24328247
30neuron fate determination (GO:0048664)3.23791344
31chaperone-mediated protein transport (GO:0072321)3.19179507
32replication fork processing (GO:0031297)3.12667946
33DNA double-strand break processing (GO:0000729)3.08511811
34chromatin remodeling at centromere (GO:0031055)3.08101460
35cilium morphogenesis (GO:0060271)3.06739733
36protein neddylation (GO:0045116)3.04738358
37translational termination (GO:0006415)3.00765820
38detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.99946894
39protein deneddylation (GO:0000338)2.97059827
40transcription elongation from RNA polymerase III promoter (GO:0006385)2.95467699
41termination of RNA polymerase III transcription (GO:0006386)2.95467699
42viral transcription (GO:0019083)2.93613829
43CENP-A containing nucleosome assembly (GO:0034080)2.92729150
44ribosomal small subunit assembly (GO:0000028)2.92256734
45centriole replication (GO:0007099)2.90889159
46pyrimidine nucleobase catabolic process (GO:0006208)2.89473026
47DNA damage response, detection of DNA damage (GO:0042769)2.89399600
48regulation of cilium movement (GO:0003352)2.88955386
49cilium organization (GO:0044782)2.87924477
50respiratory chain complex IV assembly (GO:0008535)2.84255846
51cilium assembly (GO:0042384)2.80583819
52cotranslational protein targeting to membrane (GO:0006613)2.80437815
53SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.77332589
54nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.77260144
55ATP biosynthetic process (GO:0006754)2.76322460
56intracellular protein transmembrane import (GO:0044743)2.75727840
57protein localization to cilium (GO:0061512)2.69570330
58negative regulation of DNA-dependent DNA replication (GO:2000104)2.68986658
59negative regulation of transcription regulatory region DNA binding (GO:2000678)2.68699567
60protein targeting to ER (GO:0045047)2.67966259
61organelle disassembly (GO:1903008)2.67780083
62negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.66893126
63negative regulation of translation, ncRNA-mediated (GO:0040033)2.66893126
64regulation of translation, ncRNA-mediated (GO:0045974)2.66893126
65hydrogen ion transmembrane transport (GO:1902600)2.65781536
66histone exchange (GO:0043486)2.64928062
67exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.64032851
68nonmotile primary cilium assembly (GO:0035058)2.63813770
69indolalkylamine metabolic process (GO:0006586)2.62655713
70purine nucleoside triphosphate biosynthetic process (GO:0009145)2.61290081
71cytochrome complex assembly (GO:0017004)2.60819080
72resolution of meiotic recombination intermediates (GO:0000712)2.60354089
73translational elongation (GO:0006414)2.60277752
74limb bud formation (GO:0060174)2.59037441
75water-soluble vitamin biosynthetic process (GO:0042364)2.58350655
76establishment of protein localization to endoplasmic reticulum (GO:0072599)2.56409710
77purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.55897713
78neural tube formation (GO:0001841)2.54311352
79DNA strand renaturation (GO:0000733)2.51945445
80motile cilium assembly (GO:0044458)2.50145273
81mannosylation (GO:0097502)2.49964339
82proton transport (GO:0015992)2.48443372
83rRNA modification (GO:0000154)2.47954770
84neurofilament cytoskeleton organization (GO:0060052)2.46893088
85sulfation (GO:0051923)2.46685378
86kinetochore assembly (GO:0051382)2.46550824
877-methylguanosine mRNA capping (GO:0006370)2.45221724
88histone H2A acetylation (GO:0043968)2.44583846
89somite rostral/caudal axis specification (GO:0032525)2.43746948
90hydrogen transport (GO:0006818)2.43556246
91establishment of planar polarity (GO:0001736)2.41541342
92establishment of tissue polarity (GO:0007164)2.41541342
93protein localization to endoplasmic reticulum (GO:0070972)2.41204144
94epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.40696784
957-methylguanosine RNA capping (GO:0009452)2.40311267
96RNA capping (GO:0036260)2.40311267
97maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.39242012
98recombinational repair (GO:0000725)2.37164839
99retinal ganglion cell axon guidance (GO:0031290)2.34628429
100double-strand break repair via homologous recombination (GO:0000724)2.34103219

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human3.12023782
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.11883234
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.10920316
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.00156887
5ZNF274_21170338_ChIP-Seq_K562_Hela2.85559409
6SALL1_21062744_ChIP-ChIP_HESCs_Human2.74241110
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.70599810
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.64231579
9FUS_26573619_Chip-Seq_HEK293_Human2.60128680
10IGF1R_20145208_ChIP-Seq_DFB_Human2.52542915
11EWS_26573619_Chip-Seq_HEK293_Human2.51854269
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.38225342
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.24143722
14GBX2_23144817_ChIP-Seq_PC3_Human2.21628301
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.16628654
16* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.14736003
17TAF15_26573619_Chip-Seq_HEK293_Human2.14581155
18MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.09213118
19ELK1_19687146_ChIP-ChIP_HELA_Human2.02556565
20RBPJ_22232070_ChIP-Seq_NCS_Mouse1.96786452
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.96292833
22P300_19829295_ChIP-Seq_ESCs_Human1.95399638
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.92882204
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88389216
25SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.84842694
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.84309086
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83936252
28MYC_18940864_ChIP-ChIP_HL60_Human1.72963540
29EZH2_22144423_ChIP-Seq_EOC_Human1.72945691
30POU5F1_16153702_ChIP-ChIP_HESCs_Human1.71671845
31E2F4_17652178_ChIP-ChIP_JURKAT_Human1.69787701
32TP63_19390658_ChIP-ChIP_HaCaT_Human1.64139651
33CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.60790178
34VDR_23849224_ChIP-Seq_CD4+_Human1.53774611
35ETS1_20019798_ChIP-Seq_JURKAT_Human1.50004926
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.47904076
37CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.46449984
38ER_23166858_ChIP-Seq_MCF-7_Human1.43225509
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.43063197
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.41328902
41CREB1_15753290_ChIP-ChIP_HEK293T_Human1.40053527
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.36407084
43BCAT_22108803_ChIP-Seq_LS180_Human1.36245604
44RNF2_27304074_Chip-Seq_NSC_Mouse1.35345656
45MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.35219915
46TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35051740
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.35051740
48UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.33757298
49IRF1_19129219_ChIP-ChIP_H3396_Human1.33505207
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33253877
51EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.32541233
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30729507
53TP53_22573176_ChIP-Seq_HFKS_Human1.30377908
54SOX2_16153702_ChIP-ChIP_HESCs_Human1.29603751
55JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.28148659
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.27599957
57SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27268334
58CBP_20019798_ChIP-Seq_JUKART_Human1.25928277
59IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25928277
60NANOG_19829295_ChIP-Seq_ESCs_Human1.25388442
61SOX2_19829295_ChIP-Seq_ESCs_Human1.25388442
62SMAD4_21799915_ChIP-Seq_A2780_Human1.23831954
63TCF4_22108803_ChIP-Seq_LS180_Human1.22901169
64PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22534946
65GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20838493
66AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20820015
67NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.19997350
68MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17505776
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16558839
70NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.14914197
71SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.14032820
72AR_25329375_ChIP-Seq_VCAP_Human1.13845688
73SRF_21415370_ChIP-Seq_HL-1_Mouse1.11205408
74FOXP3_21729870_ChIP-Seq_TREG_Human1.09806118
75FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09339787
76FOXA1_25329375_ChIP-Seq_VCAP_Human1.09339787
77NANOG_16153702_ChIP-ChIP_HESCs_Human1.08339495
78KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05943022
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.05688983
80SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05146239
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04160954
82STAT3_23295773_ChIP-Seq_U87_Human1.03808039
83NFE2_27457419_Chip-Seq_LIVER_Mouse1.02027509
84RUNX2_22187159_ChIP-Seq_PCA_Human1.01339092
85NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00456174
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97992411
87SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.97571169
88TCF4_23295773_ChIP-Seq_U87_Human0.97386533
89FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95869390
90HTT_18923047_ChIP-ChIP_STHdh_Human0.95738696
91TTF2_22483619_ChIP-Seq_HELA_Human0.95652775
92NANOG_18555785_Chip-Seq_ESCs_Mouse0.94794018
93PCGF2_27294783_Chip-Seq_NPCs_Mouse0.94662188
94ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.92924715
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92839505
96LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92102665
97EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.92015336
98PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.91919458
99AR_20517297_ChIP-Seq_VCAP_Human0.91655274
100FOXA1_21572438_ChIP-Seq_LNCaP_Human0.91003496

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.35334948
2MP0003011_delayed_dark_adaptation3.12113744
3MP0000372_irregular_coat_pigmentation3.09659333
4MP0002938_white_spotting2.65853639
5MP0006292_abnormal_olfactory_placode2.51171217
6MP0002736_abnormal_nociception_after2.30936815
7MP0003880_abnormal_central_pattern2.27257798
8MP0006072_abnormal_retinal_apoptosis2.07279623
9MP0005171_absent_coat_pigmentation2.07039971
10MP0005253_abnormal_eye_physiology2.06149716
11MP0008877_abnormal_DNA_methylation2.02880847
12MP0003806_abnormal_nucleotide_metabolis1.98358842
13MP0000566_synostosis1.96160945
14MP0008058_abnormal_DNA_repair1.95540986
15MP0001529_abnormal_vocalization1.86901185
16MP0002638_abnormal_pupillary_reflex1.86611419
17MP0006276_abnormal_autonomic_nervous1.81036866
18MP0009046_muscle_twitch1.80791460
19MP0001968_abnormal_touch/_nociception1.76304296
20MP0004133_heterotaxia1.74926611
21MP0005084_abnormal_gallbladder_morpholo1.69228551
22MP0009379_abnormal_foot_pigmentation1.68363659
23MP0001293_anophthalmia1.67432714
24MP0005551_abnormal_eye_electrophysiolog1.67379994
25MP0002822_catalepsy1.64874711
26MP0009697_abnormal_copulation1.61311906
27MP0003890_abnormal_embryonic-extraembry1.55355923
28MP0002102_abnormal_ear_morphology1.50053357
29MP0003693_abnormal_embryo_hatching1.48655236
30MP0002234_abnormal_pharynx_morphology1.46788821
31MP0003718_maternal_effect1.43913494
32MP0005075_abnormal_melanosome_morpholog1.41919002
33MP0010094_abnormal_chromosome_stability1.41416503
34MP0004742_abnormal_vestibular_system1.41195314
35MP0008789_abnormal_olfactory_epithelium1.41060458
36MP0000631_abnormal_neuroendocrine_gland1.40132578
37MP0004142_abnormal_muscle_tone1.40026711
38MP0001485_abnormal_pinna_reflex1.39289229
39MP0009745_abnormal_behavioral_response1.35723528
40MP0002282_abnormal_trachea_morphology1.35125408
41MP0000049_abnormal_middle_ear1.31635141
42MP0001984_abnormal_olfaction1.31595578
43MP0010030_abnormal_orbit_morphology1.30735284
44MP0004147_increased_porphyrin_level1.30438901
45MP0002095_abnormal_skin_pigmentation1.29002352
46MP0008872_abnormal_physiological_respon1.25527528
47MP0003937_abnormal_limbs/digits/tail_de1.25174385
48MP0003195_calcinosis1.25102878
49MP0001486_abnormal_startle_reflex1.24671902
50MP0001986_abnormal_taste_sensitivity1.24579690
51MP0001324_abnormal_eye_pigmentation1.23309290
52MP0005391_vision/eye_phenotype1.22399596
53MP0008875_abnormal_xenobiotic_pharmacok1.22251793
54MP0008995_early_reproductive_senescence1.21962036
55MP0002751_abnormal_autonomic_nervous1.20622717
56MP0005423_abnormal_somatic_nervous1.18530432
57MP0002837_dystrophic_cardiac_calcinosis1.17609459
58MP0000647_abnormal_sebaceous_gland1.15658930
59MP0002735_abnormal_chemical_nociception1.15540966
60MP0002160_abnormal_reproductive_system1.13317228
61MP0003186_abnormal_redox_activity1.11822962
62MP0002272_abnormal_nervous_system1.11224803
63MP0002928_abnormal_bile_duct1.07730335
64MP0000026_abnormal_inner_ear1.07661798
65MP0005187_abnormal_penis_morphology1.07438885
66MP0000778_abnormal_nervous_system1.01700150
67MP0002277_abnormal_respiratory_mucosa1.00836549
68MP0003119_abnormal_digestive_system0.98706059
69MP0005174_abnormal_tail_pigmentation0.96993001
70MP0002064_seizures0.96719787
71MP0002653_abnormal_ependyma_morphology0.96089853
72MP0000516_abnormal_urinary_system0.95438371
73MP0005367_renal/urinary_system_phenotyp0.95438371
74MP0001905_abnormal_dopamine_level0.94449088
75MP0003698_abnormal_male_reproductive0.93244727
76MP0002752_abnormal_somatic_nervous0.92575659
77MP0002210_abnormal_sex_determination0.92079124
78MP0005195_abnormal_posterior_eye0.91438979
79MP0001286_abnormal_eye_development0.90261206
80MP0003755_abnormal_palate_morphology0.90005909
81MP0001764_abnormal_homeostasis0.88961342
82MP0005499_abnormal_olfactory_system0.88806372
83MP0005394_taste/olfaction_phenotype0.88806372
84MP0002697_abnormal_eye_size0.87774220
85MP0002734_abnormal_mechanical_nocicepti0.86510795
86MP0001929_abnormal_gametogenesis0.85931240
87MP0005646_abnormal_pituitary_gland0.84816378
88MP0003122_maternal_imprinting0.84352598
89MP0002557_abnormal_social/conspecific_i0.83606722
90MP0002184_abnormal_innervation0.83069556
91MP0005408_hypopigmentation0.82793295
92MP0010386_abnormal_urinary_bladder0.82104383
93MP0002067_abnormal_sensory_capabilities0.81591693
94MP0003121_genomic_imprinting0.79249340
95MP0000569_abnormal_digit_pigmentation0.78570689
96MP0000427_abnormal_hair_cycle0.78381203
97MP0004019_abnormal_vitamin_homeostasis0.77790693
98MP0002572_abnormal_emotion/affect_behav0.77327464
99MP0004145_abnormal_muscle_electrophysio0.77035883
100MP0008932_abnormal_embryonic_tissue0.76569142

Predicted human phenotypes

RankGene SetZ-score
1Abnormal ciliary motility (HP:0012262)3.94537050
2Abnormal respiratory motile cilium physiology (HP:0012261)3.90121933
3Abnormal respiratory epithelium morphology (HP:0012253)3.72173802
4Abnormal respiratory motile cilium morphology (HP:0005938)3.72173802
5Pancreatic cysts (HP:0001737)3.61506865
6Pancreatic fibrosis (HP:0100732)3.57438929
7True hermaphroditism (HP:0010459)3.47610165
8Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.47168804
9Absent/shortened dynein arms (HP:0200106)3.41087415
10Dynein arm defect of respiratory motile cilia (HP:0012255)3.41087415
11Rhinitis (HP:0012384)3.27162708
12Acute necrotizing encephalopathy (HP:0006965)3.26497505
13Mitochondrial inheritance (HP:0001427)3.23019733
14Abnormality of midbrain morphology (HP:0002418)3.22769153
15Molar tooth sign on MRI (HP:0002419)3.22769153
16Medial flaring of the eyebrow (HP:0010747)3.12323962
17Acute encephalopathy (HP:0006846)2.94972732
18Increased hepatocellular lipid droplets (HP:0006565)2.93424432
19Nephronophthisis (HP:0000090)2.91872799
20Increased CSF lactate (HP:0002490)2.91554631
21Congenital, generalized hypertrichosis (HP:0004540)2.88824897
22Abnormality of the labia minora (HP:0012880)2.84316309
23Progressive macrocephaly (HP:0004481)2.78506236
24Abnormal mitochondria in muscle tissue (HP:0008316)2.77742345
25Anencephaly (HP:0002323)2.77580209
26Hypothermia (HP:0002045)2.70264928
27Congenital stationary night blindness (HP:0007642)2.70183612
28Abnormal number of erythroid precursors (HP:0012131)2.69103273
29Lipid accumulation in hepatocytes (HP:0006561)2.62576572
30Hepatocellular necrosis (HP:0001404)2.51037150
31Abnormality of the pons (HP:0007361)2.50223785
32Hypoplasia of the pons (HP:0012110)2.49892448
33Type II lissencephaly (HP:0007260)2.46116301
34Abnormality of the renal medulla (HP:0100957)2.42286403
353-Methylglutaconic aciduria (HP:0003535)2.40037077
36Congenital primary aphakia (HP:0007707)2.38707599
37Hepatic necrosis (HP:0002605)2.38512136
38Genital tract atresia (HP:0001827)2.37098317
39Gait imbalance (HP:0002141)2.36991667
40Supernumerary spleens (HP:0009799)2.36324533
41Vaginal atresia (HP:0000148)2.28340454
42Septo-optic dysplasia (HP:0100842)2.28173881
43Aplasia/Hypoplasia of the tongue (HP:0010295)2.27840149
44Chronic bronchitis (HP:0004469)2.27713834
45Thyroid-stimulating hormone excess (HP:0002925)2.27449858
46Abnormality of cells of the erythroid lineage (HP:0012130)2.27408773
47Cystic liver disease (HP:0006706)2.22555929
48Renal Fanconi syndrome (HP:0001994)2.21845394
49Concave nail (HP:0001598)2.16174578
50Abnormal biliary tract physiology (HP:0012439)2.16010062
51Bile duct proliferation (HP:0001408)2.16010062
52Tubulointerstitial nephritis (HP:0001970)2.15576307
53Nephrogenic diabetes insipidus (HP:0009806)2.12585091
54Sclerocornea (HP:0000647)2.10850588
55Bifid tongue (HP:0010297)2.07740505
56Methylmalonic acidemia (HP:0002912)2.07262006
57Occipital encephalocele (HP:0002085)2.06161671
58Limb dystonia (HP:0002451)2.06041341
59Chronic hepatic failure (HP:0100626)2.03654202
60Abnormality of the renal cortex (HP:0011035)2.00411385
61Cerebral edema (HP:0002181)1.98082948
62Aplasia/Hypoplasia of the uvula (HP:0010293)1.94507592
63Reticulocytopenia (HP:0001896)1.93948289
64Optic disc pallor (HP:0000543)1.93725944
65Macrocytic anemia (HP:0001972)1.93010486
66Absent septum pellucidum (HP:0001331)1.92892507
67Postaxial hand polydactyly (HP:0001162)1.92706571
68Decreased central vision (HP:0007663)1.92478081
69Postaxial foot polydactyly (HP:0001830)1.90688653
70Meckel diverticulum (HP:0002245)1.88722204
71Abolished electroretinogram (ERG) (HP:0000550)1.88203839
72Male pseudohermaphroditism (HP:0000037)1.86707550
73Cerebellar dysplasia (HP:0007033)1.85773798
74Abnormality of the ileum (HP:0001549)1.85281212
75Bronchiectasis (HP:0002110)1.84996667
76Poor coordination (HP:0002370)1.83723179
77Optic nerve hypoplasia (HP:0000609)1.83133668
78Aplasia/Hypoplasia of the tibia (HP:0005772)1.81888466
79Type I transferrin isoform profile (HP:0003642)1.80792686
80Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.79556503
81Preaxial hand polydactyly (HP:0001177)1.76120840
82Abnormality of the fovea (HP:0000493)1.76115613
83Exertional dyspnea (HP:0002875)1.76108890
84Congenital hepatic fibrosis (HP:0002612)1.75381389
85Intestinal atresia (HP:0011100)1.74524136
86Increased serum lactate (HP:0002151)1.73141387
87Bilateral microphthalmos (HP:0007633)1.71459969
88Hyperglycinemia (HP:0002154)1.71034175
89Short tibia (HP:0005736)1.70665034
90Congenital sensorineural hearing impairment (HP:0008527)1.70133675
91Pendular nystagmus (HP:0012043)1.69927468
92Astigmatism (HP:0000483)1.69174541
93Gastrointestinal atresia (HP:0002589)1.67202977
94Lactic acidosis (HP:0003128)1.66375261
95Glycosuria (HP:0003076)1.66364598
96Abnormality of urine glucose concentration (HP:0011016)1.66364598
97Abnormality of macular pigmentation (HP:0008002)1.65923213
98Dandy-Walker malformation (HP:0001305)1.64715237
99Methylmalonic aciduria (HP:0012120)1.64240649
100Abnormal drinking behavior (HP:0030082)1.63912765

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K23.22976772
2WNK32.91629956
3VRK22.69441599
4MAPK152.41853696
5MST42.41573137
6FRK2.39187876
7ZAK2.21256613
8BUB12.20256928
9BMPR1B2.11391171
10MAP3K42.10806347
11TAF12.08337014
12VRK12.06087960
13CCNB11.90642886
14PINK11.87306451
15TRIM281.83123122
16PLK31.82861796
17NME11.81989324
18CDC71.77684104
19BRSK21.77540243
20EIF2AK31.77011816
21WEE11.59498630
22ACVR1B1.58576259
23TNIK1.56623219
24DYRK21.56609416
25PNCK1.54929727
26STK391.54140871
27NUAK11.52081932
28MKNK21.51818342
29MKNK11.43578087
30OXSR11.42841549
31ADRBK21.40151016
32MAP3K121.35439984
33PBK1.30408048
34MUSK1.30375607
35GRK11.28257106
36WNK41.26128380
37TGFBR11.24839149
38TLK11.24305856
39TSSK61.22173894
40TTK1.18539642
41INSRR1.15997427
42MAPK131.14284361
43PDK21.13619263
44PLK41.10754327
45PAK31.09189678
46SRPK11.09170977
47DYRK31.08092912
48CASK1.06590019
49MAP2K71.01293127
50ADRBK10.98185806
51PLK20.96616859
52BCKDK0.96346785
53MARK10.95177969
54PASK0.95142821
55STK160.92449571
56STK38L0.80947849
57EPHA40.79618284
58FGFR20.78374498
59BCR0.78211224
60ERBB30.76608004
61EPHB20.75158001
62CSNK1G10.74958331
63EIF2AK10.74583438
64KIT0.72897436
65PRKCG0.71470291
66DYRK1A0.65498998
67CSNK1G20.59631892
68CHEK20.59436249
69PLK10.59113790
70ATR0.57142450
71PRKCE0.56284189
72FGFR10.55591129
73AURKB0.54956621
74CSNK1G30.53901608
75PKN10.53640436
76NEK20.53059523
77NEK10.51533051
78NTRK20.51064770
79CSNK1A10.47586436
80BRD40.46649552
81MAP2K40.46019830
82CAMK1D0.45178398
83CAMK2A0.44682591
84PTK2B0.44604182
85CSNK2A10.43649808
86BRSK10.43447853
87CDK80.41452940
88ATM0.41216985
89EIF2AK20.40913832
90MAPKAPK50.40913528
91PRKACB0.40343445
92CSNK1A1L0.39869580
93CAMK10.38467423
94PRKG10.38247897
95TIE10.38060363
96PRKACA0.36946527
97TAOK30.36772486
98MINK10.36749939
99GRK70.35238697
100CAMK1G0.35237890

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.97421331
2Parkinsons disease_Homo sapiens_hsa050123.51513594
3Ribosome_Homo sapiens_hsa030103.19540187
4Protein export_Homo sapiens_hsa030602.98889030
5RNA polymerase_Homo sapiens_hsa030202.92171107
6Proteasome_Homo sapiens_hsa030502.91015363
7Huntingtons disease_Homo sapiens_hsa050162.89982058
8Homologous recombination_Homo sapiens_hsa034402.54291000
9Alzheimers disease_Homo sapiens_hsa050102.29188281
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.29119828
11Non-homologous end-joining_Homo sapiens_hsa034502.00897713
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.91299480
13Basal transcription factors_Homo sapiens_hsa030221.90501568
14Fanconi anemia pathway_Homo sapiens_hsa034601.89323333
15Mismatch repair_Homo sapiens_hsa034301.82380084
16Cardiac muscle contraction_Homo sapiens_hsa042601.76754286
17Phototransduction_Homo sapiens_hsa047441.74772137
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.63454524
19RNA degradation_Homo sapiens_hsa030181.52946250
20One carbon pool by folate_Homo sapiens_hsa006701.46058281
21DNA replication_Homo sapiens_hsa030301.44448692
22Propanoate metabolism_Homo sapiens_hsa006401.43803553
23Linoleic acid metabolism_Homo sapiens_hsa005911.39567027
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.39223513
25Nitrogen metabolism_Homo sapiens_hsa009101.36311675
26Nucleotide excision repair_Homo sapiens_hsa034201.31978937
27Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.30165453
28Nicotine addiction_Homo sapiens_hsa050331.29092109
29Butanoate metabolism_Homo sapiens_hsa006501.25989287
30Fatty acid elongation_Homo sapiens_hsa000621.24121649
31Spliceosome_Homo sapiens_hsa030401.23599876
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.21318793
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18546659
34Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.15787473
35RNA transport_Homo sapiens_hsa030131.14864981
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13709177
37Selenocompound metabolism_Homo sapiens_hsa004501.11816294
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.10562434
39Chemical carcinogenesis_Homo sapiens_hsa052041.09571061
40Steroid biosynthesis_Homo sapiens_hsa001001.09468776
41Folate biosynthesis_Homo sapiens_hsa007901.08433083
42Purine metabolism_Homo sapiens_hsa002301.07869217
43Caffeine metabolism_Homo sapiens_hsa002321.07082930
44Glutathione metabolism_Homo sapiens_hsa004801.05382131
45alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.04723645
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03821471
47Tryptophan metabolism_Homo sapiens_hsa003800.99401703
48Taste transduction_Homo sapiens_hsa047420.98763130
49Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96368117
50Pyrimidine metabolism_Homo sapiens_hsa002400.95219761
51Peroxisome_Homo sapiens_hsa041460.94290647
52Base excision repair_Homo sapiens_hsa034100.91038659
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.90303057
54Collecting duct acid secretion_Homo sapiens_hsa049660.89093512
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.88707720
56beta-Alanine metabolism_Homo sapiens_hsa004100.87832536
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.86515612
58Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.86275717
59Ether lipid metabolism_Homo sapiens_hsa005650.83727085
60Basal cell carcinoma_Homo sapiens_hsa052170.81836735
61Metabolic pathways_Homo sapiens_hsa011000.76377216
62Cysteine and methionine metabolism_Homo sapiens_hsa002700.76125974
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.72924998
64Retinol metabolism_Homo sapiens_hsa008300.71797440
65Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69365139
66Regulation of autophagy_Homo sapiens_hsa041400.68262512
67Tyrosine metabolism_Homo sapiens_hsa003500.68259852
68Primary bile acid biosynthesis_Homo sapiens_hsa001200.65112250
69Vitamin digestion and absorption_Homo sapiens_hsa049770.64180420
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.62554441
71Cell cycle_Homo sapiens_hsa041100.57456046
72Olfactory transduction_Homo sapiens_hsa047400.56568543
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54256733
74Serotonergic synapse_Homo sapiens_hsa047260.53390318
75Hedgehog signaling pathway_Homo sapiens_hsa043400.51119730
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.51076845
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50155782
78Pyruvate metabolism_Homo sapiens_hsa006200.49356988
79GABAergic synapse_Homo sapiens_hsa047270.48353608
80Histidine metabolism_Homo sapiens_hsa003400.44446664
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44060991
82Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.43964657
83Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.41467089
84Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40303773
85Fat digestion and absorption_Homo sapiens_hsa049750.40023857
86ABC transporters_Homo sapiens_hsa020100.38858238
87TGF-beta signaling pathway_Homo sapiens_hsa043500.37080508
88Wnt signaling pathway_Homo sapiens_hsa043100.36081475
89Sulfur relay system_Homo sapiens_hsa041220.35942445
90Glutamatergic synapse_Homo sapiens_hsa047240.35328980
91Circadian entrainment_Homo sapiens_hsa047130.35033885
92Arachidonic acid metabolism_Homo sapiens_hsa005900.34664329
93Morphine addiction_Homo sapiens_hsa050320.33801288
94Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.31840836
95Oocyte meiosis_Homo sapiens_hsa041140.31207861
96Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.29394122
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29327752
98Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.27933837
99Mineral absorption_Homo sapiens_hsa049780.27359245
100mRNA surveillance pathway_Homo sapiens_hsa030150.25993254

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