C8ORF48

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
1centriole replication (GO:0007099)8.94144911
2pentose-phosphate shunt (GO:0006098)7.05541583
3behavioral response to ethanol (GO:0048149)6.92522511
4NADPH regeneration (GO:0006740)6.87037054
5negative regulation of catenin import into nucleus (GO:0035414)6.67733986
6centriole assembly (GO:0098534)6.16851192
7peptidyl-tyrosine autophosphorylation (GO:0038083)5.90785026
8alanine transport (GO:0032328)5.64372770
9glucose catabolic process (GO:0006007)5.29072407
10sequestering of extracellular ligand from receptor (GO:0035581)5.03671045
11Sertoli cell development (GO:0060009)4.93831499
12parturition (GO:0007567)4.79396446
13locomotory exploration behavior (GO:0035641)4.77288889
14epithelial cilium movement (GO:0003351)4.47735683
15behavioral response to cocaine (GO:0048148)4.43098631
16epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.27977748
17chaperone-mediated protein transport (GO:0072321)4.18680976
18regulation of glucocorticoid secretion (GO:2000849)4.17058918
19L-serine transport (GO:0015825)4.10834155
20embryonic body morphogenesis (GO:0010172)4.03825630
21negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)3.92052080
22negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.87808629
23centrosome duplication (GO:0051298)3.86935819
24rRNA methylation (GO:0031167)3.82049801
25somite development (GO:0061053)3.79714044
26hypothalamus development (GO:0021854)3.76173271
27rRNA modification (GO:0000154)3.73125889
28negative regulation of catecholamine secretion (GO:0033604)3.70929956
29endocrine hormone secretion (GO:0060986)3.68560054
30lateral sprouting from an epithelium (GO:0060601)3.61076430
31cilium movement (GO:0003341)3.58310878
32ribosomal small subunit biogenesis (GO:0042274)3.49979561
33GPI anchor metabolic process (GO:0006505)3.47330280
34C-terminal protein lipidation (GO:0006501)3.45286840
35body morphogenesis (GO:0010171)3.44990576
36microtubule bundle formation (GO:0001578)3.43506136
37regulation of dendritic cell antigen processing and presentation (GO:0002604)3.41325651
38intraciliary transport (GO:0042073)3.41254830
39regulation of corticosteroid hormone secretion (GO:2000846)3.35473485
40serine transport (GO:0032329)3.33624949
41peptidyl-proline hydroxylation (GO:0019511)3.31624208
42L-amino acid import (GO:0043092)3.28933265
43mitotic cytokinesis (GO:0000281)3.28064890
44mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.26858598
454-hydroxyproline metabolic process (GO:0019471)3.23002332
46limb development (GO:0060173)3.19864483
47appendage development (GO:0048736)3.19864483
48short-term memory (GO:0007614)3.19615232
49regulation of feeding behavior (GO:0060259)3.15981082
50negative regulation of axon extension (GO:0030517)3.14835436
51positive regulation of mitochondrial fission (GO:0090141)3.07139831
52head development (GO:0060322)3.04342290
53mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.02006321
54regulation of voltage-gated calcium channel activity (GO:1901385)2.99062456
55intracellular protein transmembrane import (GO:0044743)2.96152469
56NADP metabolic process (GO:0006739)2.95567672
57negative regulation of calcium ion transmembrane transport (GO:1903170)2.95131885
58negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.95131885
59basic amino acid transport (GO:0015802)2.92932115
60extracellular negative regulation of signal transduction (GO:1900116)2.91249773
61extracellular regulation of signal transduction (GO:1900115)2.91249773
62tachykinin receptor signaling pathway (GO:0007217)2.90030656
63regulation of vesicle fusion (GO:0031338)2.88803192
64nerve growth factor signaling pathway (GO:0038180)2.88590066
65negative regulation of cation channel activity (GO:2001258)2.88279965
66positive regulation of mast cell activation involved in immune response (GO:0033008)2.85767921
67positive regulation of mast cell degranulation (GO:0043306)2.85767921
68single strand break repair (GO:0000012)2.85726042
69axonemal dynein complex assembly (GO:0070286)2.82297618
70exploration behavior (GO:0035640)2.82191746
71endoderm formation (GO:0001706)2.81407546
72negative regulation of activin receptor signaling pathway (GO:0032926)2.78030992
73cytokine production involved in immune response (GO:0002367)2.77121166
74left/right pattern formation (GO:0060972)2.76902546
75positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.75893706
76C-terminal protein amino acid modification (GO:0018410)2.75778205
77establishment of protein localization to mitochondrial membrane (GO:0090151)2.72216830
78cilium morphogenesis (GO:0060271)2.71459177
79lysine catabolic process (GO:0006554)2.69696174
80lysine metabolic process (GO:0006553)2.69696174
81glycerol metabolic process (GO:0006071)2.63852765
82axoneme assembly (GO:0035082)2.63647351
83hexose catabolic process (GO:0019320)2.62590921
84limb bud formation (GO:0060174)2.59380112
85retina layer formation (GO:0010842)2.56859105
86energy coupled proton transport, down electrochemical gradient (GO:0015985)2.56182737
87ATP synthesis coupled proton transport (GO:0015986)2.56182737
88retinal rod cell development (GO:0046548)2.53630655
89fear response (GO:0042596)2.51602890
90heart contraction (GO:0060047)2.51586527
91heart process (GO:0003015)2.51586527
92positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)2.48410258
93regulation of catenin import into nucleus (GO:0035412)2.46827115
94cilium assembly (GO:0042384)2.45824626
95cilium organization (GO:0044782)2.45030746
96regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)2.42573869
97protein import into peroxisome matrix (GO:0016558)2.42082620
98adrenal gland development (GO:0030325)2.41391490
99axon extension involved in axon guidance (GO:0048846)2.39799476
100neuron projection extension involved in neuron projection guidance (GO:1902284)2.39799476

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.68056871
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.41811641
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.00473973
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.81464412
5GBX2_23144817_ChIP-Seq_PC3_Human2.60592240
6NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.44322687
7EST1_17652178_ChIP-ChIP_JURKAT_Human2.33520588
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.12381857
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.10999947
10EED_16625203_ChIP-ChIP_MESCs_Mouse2.07645485
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.07604542
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.07045418
13CBX2_27304074_Chip-Seq_ESCs_Mouse1.98292061
14TRIM28_21343339_ChIP-Seq_HEK293_Human1.95758090
15PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.94859475
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93239399
17POU3F2_20337985_ChIP-ChIP_501MEL_Human1.83647518
18ZNF274_21170338_ChIP-Seq_K562_Hela1.79534674
19P300_19829295_ChIP-Seq_ESCs_Human1.78723228
20FUS_26573619_Chip-Seq_HEK293_Human1.76643329
21ELK1_19687146_ChIP-ChIP_HELA_Human1.71950657
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.71293265
23EWS_26573619_Chip-Seq_HEK293_Human1.66738782
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.64360052
25CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.62579998
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.57910712
27FLI1_27457419_Chip-Seq_LIVER_Mouse1.53230651
28MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.50769435
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.47449054
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.46143248
31PIAS1_25552417_ChIP-Seq_VCAP_Human1.44132647
32PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.43722400
33CBP_20019798_ChIP-Seq_JUKART_Human1.37361034
34IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.37361034
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36641928
36PCGF2_27294783_Chip-Seq_ESCs_Mouse1.32840471
37EOMES_21245162_ChIP-Seq_HESCs_Human1.31732807
38KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.31321600
39POU5F1_16153702_ChIP-ChIP_HESCs_Human1.31181217
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.29815286
41RNF2_27304074_Chip-Seq_NSC_Mouse1.29656640
42ELK1_22589737_ChIP-Seq_MCF10A_Human1.29207871
43WT1_19549856_ChIP-ChIP_CCG9911_Human1.28749173
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27952790
45JUN_21703547_ChIP-Seq_K562_Human1.27284617
46CREB1_15753290_ChIP-ChIP_HEK293T_Human1.26842923
47TP53_18474530_ChIP-ChIP_U2OS_Human1.26098779
48SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25024965
49AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24493127
50KLF5_20875108_ChIP-Seq_MESCs_Mouse1.24034489
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.22531850
52* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.21816415
53ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.21520251
54ETS1_20019798_ChIP-Seq_JURKAT_Human1.20732964
55CTBP2_25329375_ChIP-Seq_LNCAP_Human1.19440008
56EP300_21415370_ChIP-Seq_HL-1_Mouse1.17951680
57SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.16932327
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16541952
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15953946
60NFE2_27457419_Chip-Seq_LIVER_Mouse1.14134709
61* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13209934
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13195332
63RNF2_27304074_Chip-Seq_ESCs_Mouse1.13172401
64GATA1_26923725_Chip-Seq_HPCs_Mouse1.12928071
65EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.12714204
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.12170470
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11658716
68EZH2_27294783_Chip-Seq_ESCs_Mouse1.11292592
69MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10619489
70REST_21632747_ChIP-Seq_MESCs_Mouse1.10470780
71GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.09816342
72RBPJ_22232070_ChIP-Seq_NCS_Mouse1.09364725
73TP53_16413492_ChIP-PET_HCT116_Human1.08685965
74JARID2_20064375_ChIP-Seq_MESCs_Mouse1.08411406
75E2F4_17652178_ChIP-ChIP_JURKAT_Human1.07463968
76SMAD3_21741376_ChIP-Seq_EPCs_Human1.06637210
77NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.05279219
78NRF2_20460467_ChIP-Seq_MEFs_Mouse1.05279219
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.04936191
80HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.03995634
81TTF2_22483619_ChIP-Seq_HELA_Human1.03512569
82TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02963455
83SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.01535014
84SMAD4_21799915_ChIP-Seq_A2780_Human0.99895559
85SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.98815294
86TCF4_22108803_ChIP-Seq_LS180_Human0.98410767
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98140246
88GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97690370
89EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97326032
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97209974
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.96553156
92SUZ12_27294783_Chip-Seq_ESCs_Mouse0.96145387
93SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92956797
94P53_22387025_ChIP-Seq_ESCs_Mouse0.92580556
95EZH2_27294783_Chip-Seq_NPCs_Mouse0.92362841
96TP53_20018659_ChIP-ChIP_R1E_Mouse0.91765085
97AR_25329375_ChIP-Seq_VCAP_Human0.90641992
98PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.89567376
99FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.89306270
100HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.88903513

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color2.85405115
2MP0003806_abnormal_nucleotide_metabolis2.65719113
3MP0009053_abnormal_anal_canal2.62966625
4MP0000537_abnormal_urethra_morphology2.56535045
5MP0002234_abnormal_pharynx_morphology2.48706203
6MP0006292_abnormal_olfactory_placode2.35464234
7MP0003011_delayed_dark_adaptation2.34336079
8MP0001188_hyperpigmentation2.25925236
9MP0005257_abnormal_intraocular_pressure2.25018420
10MP0004133_heterotaxia2.22493965
11MP0006276_abnormal_autonomic_nervous2.16976760
12MP0002102_abnormal_ear_morphology1.99464948
13MP0001299_abnormal_eye_distance/1.97984192
14MP0010030_abnormal_orbit_morphology1.96214484
15MP0002653_abnormal_ependyma_morphology1.92191435
16MP0002282_abnormal_trachea_morphology1.85191532
17MP0002233_abnormal_nose_morphology1.79032683
18MP0000049_abnormal_middle_ear1.78828523
19MP0003937_abnormal_limbs/digits/tail_de1.78263078
20MP0003119_abnormal_digestive_system1.76919483
21MP0002751_abnormal_autonomic_nervous1.75509456
22MP0008789_abnormal_olfactory_epithelium1.75059132
23MP0003942_abnormal_urinary_system1.72964598
24MP0009379_abnormal_foot_pigmentation1.72881614
25MP0002184_abnormal_innervation1.72353419
26MP0003787_abnormal_imprinting1.70884276
27MP0005084_abnormal_gallbladder_morpholo1.68835108
28MP0000778_abnormal_nervous_system1.66583950
29MP0003890_abnormal_embryonic-extraembry1.66219941
30MP0001293_anophthalmia1.64200986
31MP0002160_abnormal_reproductive_system1.63861161
32MP0001542_abnormal_bone_strength1.62391876
33MP0001905_abnormal_dopamine_level1.58621230
34MP0001984_abnormal_olfaction1.57707770
35MP0003941_abnormal_skin_development1.54933426
36MP0003121_genomic_imprinting1.51883918
37MP0008007_abnormal_cellular_replicative1.49030054
38MP0003186_abnormal_redox_activity1.48207742
39MP0004272_abnormal_basement_membrane1.48174763
40MP0005253_abnormal_eye_physiology1.43044286
41MP0002108_abnormal_muscle_morphology1.42226593
42MP0008438_abnormal_cutaneous_collagen1.42209146
43MP0003880_abnormal_central_pattern1.40115366
44MP0002734_abnormal_mechanical_nocicepti1.38361736
45MP0008932_abnormal_embryonic_tissue1.37176265
46MP0005503_abnormal_tendon_morphology1.35319369
47MP0000372_irregular_coat_pigmentation1.34516634
48MP0004142_abnormal_muscle_tone1.34421541
49MP0008058_abnormal_DNA_repair1.33041892
50MP0000631_abnormal_neuroendocrine_gland1.31039569
51MP0009046_muscle_twitch1.30446164
52MP0002938_white_spotting1.30236024
53MP0005394_taste/olfaction_phenotype1.25215440
54MP0005499_abnormal_olfactory_system1.25215440
55MP0005623_abnormal_meninges_morphology1.25105279
56MP0005171_absent_coat_pigmentation1.24757043
57MP0004233_abnormal_muscle_weight1.23752901
58MP0003755_abnormal_palate_morphology1.22983873
59MP0005646_abnormal_pituitary_gland1.20352716
60MP0003938_abnormal_ear_development1.20258420
61MP0003123_paternal_imprinting1.15683700
62MP0002736_abnormal_nociception_after1.14071068
63MP0002638_abnormal_pupillary_reflex1.13511131
64MP0001340_abnormal_eyelid_morphology1.13491477
65MP0002752_abnormal_somatic_nervous1.12862907
66MP0001286_abnormal_eye_development1.11748842
67MP0009250_abnormal_appendicular_skeleto1.11145634
68MP0002295_abnormal_pulmonary_circulatio1.10932220
69MP0000639_abnormal_adrenal_gland1.05760725
70MP0000955_abnormal_spinal_cord1.04513138
71MP0005391_vision/eye_phenotype1.03625374
72MP0002697_abnormal_eye_size1.02765430
73MP0003122_maternal_imprinting1.01399264
74MP0002909_abnormal_adrenal_gland0.98565238
75MP0005508_abnormal_skeleton_morphology0.95707849
76MP0002109_abnormal_limb_morphology0.95329303
77MP0000534_abnormal_ureter_morphology0.94110679
78MP0002932_abnormal_joint_morphology0.94055163
79MP0004858_abnormal_nervous_system0.93649947
80MP0004134_abnormal_chest_morphology0.92820481
81MP0005551_abnormal_eye_electrophysiolog0.92392230
82MP0009745_abnormal_behavioral_response0.90991203
83MP0002272_abnormal_nervous_system0.90190343
84MP0000749_muscle_degeneration0.90094079
85MP0000762_abnormal_tongue_morphology0.88014892
86MP0000432_abnormal_head_morphology0.86812033
87MP0002882_abnormal_neuron_morphology0.85132236
88MP0006072_abnormal_retinal_apoptosis0.85031207
89MP0000647_abnormal_sebaceous_gland0.84740715
90MP0003861_abnormal_nervous_system0.84184055
91MP0005195_abnormal_posterior_eye0.83311970
92MP0005197_abnormal_uvea_morphology0.81988860
93MP0004270_analgesia0.81618900
94MP0001970_abnormal_pain_threshold0.80952552
95MP0004145_abnormal_muscle_electrophysio0.79355828
96MP0002090_abnormal_vision0.78807351
97MP0002067_abnormal_sensory_capabilities0.78611650
98MP0003718_maternal_effect0.76877662
99MP0000428_abnormal_craniofacial_morphol0.76670284
100MP0006036_abnormal_mitochondrial_physio0.76483418

Predicted human phenotypes

RankGene SetZ-score
1Abnormal hair whorl (HP:0010721)6.74177383
2Abnormal biliary tract physiology (HP:0012439)5.67304002
3Bile duct proliferation (HP:0001408)5.67304002
4Patent foramen ovale (HP:0001655)5.40824069
5Abnormality of the right ventricle (HP:0001707)4.20783678
6Hypoplastic pelvis (HP:0008839)4.16138699
73-Methylglutaconic aciduria (HP:0003535)3.26653392
8Cortical dysplasia (HP:0002539)3.19459754
9Bifid tongue (HP:0010297)3.14023701
10Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.13306463
11Short nail (HP:0001799)3.05223704
12Acute necrotizing encephalopathy (HP:0006965)3.03879151
13Abnormality of the proximal phalanges of the hand (HP:0009834)2.96928436
14Abnormality of midbrain morphology (HP:0002418)2.93888563
15Molar tooth sign on MRI (HP:0002419)2.93888563
16Abnormal respiratory motile cilium physiology (HP:0012261)2.93517594
17Morphological abnormality of the middle ear (HP:0008609)2.79150117
18Poor suck (HP:0002033)2.74428049
19Medial flaring of the eyebrow (HP:0010747)2.66456711
20Abnormality of the neuromuscular junction (HP:0003398)2.66128516
21Fatigable weakness (HP:0003473)2.66128516
22Abnormal ciliary motility (HP:0012262)2.62404126
23Absent septum pellucidum (HP:0001331)2.60957042
24Decreased muscle mass (HP:0003199)2.60040503
25Abnormal mitochondria in muscle tissue (HP:0008316)2.55728584
26Abnormality of the umbilical cord (HP:0010881)2.54429233
27Cystic liver disease (HP:0006706)2.52844896
28Pancreatic cysts (HP:0001737)2.51408273
29Abnormality of dentin (HP:0010299)2.47740307
30Premature rupture of membranes (HP:0001788)2.46822989
31Abnormality of the labia minora (HP:0012880)2.44556569
32Tubulointerstitial nephritis (HP:0001970)2.43627781
33Acute encephalopathy (HP:0006846)2.42965791
34Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.37973702
35Short 1st metacarpal (HP:0010034)2.37973702
36Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.36478810
37Rhinitis (HP:0012384)2.36422887
38Abnormality of the phalanges of the 5th finger (HP:0004213)2.36147554
39Renal Fanconi syndrome (HP:0001994)2.33792472
40Wide nose (HP:0000445)2.33761124
41Progressive macrocephaly (HP:0004481)2.33586996
42Abnormality of the middle phalanges of the toes (HP:0010183)2.30059573
43Progressive microcephaly (HP:0000253)2.25623005
44Short humerus (HP:0005792)2.24381096
45Spastic tetraparesis (HP:0001285)2.22659078
46Sloping forehead (HP:0000340)2.16705067
47Aplasia/Hypoplasia of the uvula (HP:0010293)2.14992937
48Fibular hypoplasia (HP:0003038)2.12997589
49Abnormality of the distal phalanges of the toes (HP:0010182)2.12706523
50Abnormality of the 1st metacarpal (HP:0010009)2.11710022
51Dynein arm defect of respiratory motile cilia (HP:0012255)2.11500653
52Absent/shortened dynein arms (HP:0200106)2.11500653
53True hermaphroditism (HP:0010459)2.10399441
54Aplasia/hypoplasia of the humerus (HP:0006507)2.10122815
55Nephrogenic diabetes insipidus (HP:0009806)2.08473244
56Septo-optic dysplasia (HP:0100842)2.07822557
57Gonadotropin excess (HP:0000837)2.05589666
58Abnormality of cells of the erythroid lineage (HP:0012130)2.04209746
59Abnormal respiratory epithelium morphology (HP:0012253)2.01811058
60Abnormal respiratory motile cilium morphology (HP:0005938)2.01811058
61Humeroradial synostosis (HP:0003041)2.01573472
62Synostosis involving the elbow (HP:0003938)2.01573472
63Pancreatic fibrosis (HP:0100732)1.98668138
64Congenital primary aphakia (HP:0007707)1.97569425
65Rocker bottom foot (HP:0001838)1.96830052
66Congenital, generalized hypertrichosis (HP:0004540)1.93761257
67Gait imbalance (HP:0002141)1.93004225
68Mitochondrial inheritance (HP:0001427)1.92031397
69Lip pit (HP:0100267)1.90972111
70Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.90797222
71Vaginal atresia (HP:0000148)1.89376062
72Myelomeningocele (HP:0002475)1.87096638
73Abnormality of the septum pellucidum (HP:0007375)1.86124210
74Aplasia/Hypoplasia of the fibula (HP:0006492)1.85841170
75Increased CSF lactate (HP:0002490)1.85784916
76Adrenal hypoplasia (HP:0000835)1.84261338
77Anophthalmia (HP:0000528)1.84147775
78Abnormal finger flexion creases (HP:0006143)1.83834392
79Entropion (HP:0000621)1.83822867
80Anosmia (HP:0000458)1.83017470
81Chorioretinal atrophy (HP:0000533)1.82407116
82Genital tract atresia (HP:0001827)1.81837142
83Absent eyebrow (HP:0002223)1.81338594
84Secondary amenorrhea (HP:0000869)1.80558722
85Short hallux (HP:0010109)1.79190697
86Abnormal lung lobation (HP:0002101)1.78170489
87Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.78076439
88Median cleft lip (HP:0000161)1.77312359
89Short 5th finger (HP:0009237)1.75985517
90Abolished electroretinogram (ERG) (HP:0000550)1.72556901
91Hemivertebrae (HP:0002937)1.71297692
92Tarsal synostosis (HP:0008368)1.71035720
93Meckel diverticulum (HP:0002245)1.70192648
94Postaxial hand polydactyly (HP:0001162)1.69927766
95Broad distal phalanx of finger (HP:0009836)1.69744664
96Microretrognathia (HP:0000308)1.69510259
97Abnormal number of erythroid precursors (HP:0012131)1.67072381
98Synostosis of carpal bones (HP:0005048)1.66440333
99Broad toe (HP:0001837)1.65661235
100Nephronophthisis (HP:0000090)1.65604926

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B9.74649343
2MUSK7.64029864
3AKT32.85142578
4TRIM282.36548194
5WNK31.83545678
6DYRK21.80106932
7PINK11.78040612
8MAP3K41.77001658
9PNCK1.72857858
10TSSK61.63208540
11BUB11.57645717
12STK161.56243666
13MAP4K21.54591134
14MAP3K121.54557644
15BCR1.45044868
16MAP2K71.44817024
17MINK11.28717351
18CAMK1G1.28341059
19BRAF1.27864190
20ARAF1.26727519
21MYLK1.23899894
22EPHA41.20268802
23EPHB21.13830420
24EIF2AK11.03210464
25MARK11.02978321
26PAK30.98965904
27SGK2230.97985682
28SGK4940.97985682
29DYRK30.97168357
30CASK0.91073071
31PLK20.84018032
32BRSK10.82608354
33GRK10.80938162
34PLK40.80798639
35NTRK10.80646996
36CAMK1D0.78907883
37NEK90.76639175
38NTRK30.76604377
39PRKCG0.74986163
40TYRO30.74557627
41GRK70.73063375
42VRK20.68958094
43TIE10.65132142
44KSR10.64320649
45MAPK130.62532868
46ADRBK20.60446504
47CDK50.58738376
48NEK20.58598596
49WEE10.58084126
50PLK30.55037490
51WNK40.54731592
52LIMK10.52954499
53CDC70.52683247
54MAPK150.50074539
55DDR20.49873965
56CSNK1G20.47544559
57INSRR0.47524538
58PLK10.47404030
59PIM20.46916942
60NEK10.46002433
61NME20.43982317
62DAPK30.42112541
63TNIK0.40271885
64PBK0.39762861
65CAMK2D0.39686558
66PHKG20.38940939
67PHKG10.38940939
68TESK10.38302098
69CSNK1G10.34613191
70CDK140.33448666
71ADRBK10.32427727
72FRK0.30968409
73ABL20.30522580
74CDK180.30492590
75PAK10.30435000
76MAP2K40.29490147
77PRKCD0.28604543
78AURKB0.28397743
79PRKACB0.27789821
80BCKDK0.27768996
81LRRK20.26307872
82CSNK1A10.25594337
83SIK30.25095771
84PRKACA0.24465956
85PRKCE0.24233574
86DYRK1A0.24193804
87CDK150.24082354
88PTK2B0.23347558
89AURKA0.23189458
90ROCK10.23121725
91NUAK10.22452737
92ERBB30.22097373
93CSNK1G30.21897297
94ILK0.21729904
95VRK10.21140192
96MOS0.21116178
97ROCK20.20573610
98PRKCQ0.20412028
99CDK11A0.19188961
100CSNK1D0.18543598

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005634.27895581
2Pentose phosphate pathway_Homo sapiens_hsa000303.43943651
3Oxidative phosphorylation_Homo sapiens_hsa001903.35512969
4Protein export_Homo sapiens_hsa030603.29528024
5Parkinsons disease_Homo sapiens_hsa050122.90627402
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.79599082
7Ribosome_Homo sapiens_hsa030102.73029384
8Proteasome_Homo sapiens_hsa030502.65012651
9Pentose and glucuronate interconversions_Homo sapiens_hsa000402.64175353
10Huntingtons disease_Homo sapiens_hsa050162.34381539
11Basal cell carcinoma_Homo sapiens_hsa052172.25596800
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.09195603
13Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.05934508
14RNA polymerase_Homo sapiens_hsa030201.98383212
15Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.95386393
16Alzheimers disease_Homo sapiens_hsa050101.89627263
17Biosynthesis of amino acids_Homo sapiens_hsa012301.74387429
18Homologous recombination_Homo sapiens_hsa034401.62836934
19Glutathione metabolism_Homo sapiens_hsa004801.62173503
20Fanconi anemia pathway_Homo sapiens_hsa034601.57417660
21Basal transcription factors_Homo sapiens_hsa030221.53509560
22Fatty acid elongation_Homo sapiens_hsa000621.49896749
23Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.42580193
24Cardiac muscle contraction_Homo sapiens_hsa042601.39927124
25Phototransduction_Homo sapiens_hsa047441.35582108
26Non-homologous end-joining_Homo sapiens_hsa034501.29811101
27Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.21813534
28Hippo signaling pathway_Homo sapiens_hsa043901.20626293
29Mismatch repair_Homo sapiens_hsa034301.17477403
30Hedgehog signaling pathway_Homo sapiens_hsa043401.11937846
31Nucleotide excision repair_Homo sapiens_hsa034201.11597477
32Carbon metabolism_Homo sapiens_hsa012001.03427862
33Steroid biosynthesis_Homo sapiens_hsa001000.96143430
34Cyanoamino acid metabolism_Homo sapiens_hsa004600.94248729
35Nicotine addiction_Homo sapiens_hsa050330.93571562
36Chemical carcinogenesis_Homo sapiens_hsa052040.92835930
37Mineral absorption_Homo sapiens_hsa049780.90280893
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.88720806
39Wnt signaling pathway_Homo sapiens_hsa043100.82708423
40Endometrial cancer_Homo sapiens_hsa052130.81678709
41Long-term depression_Homo sapiens_hsa047300.81439051
42ECM-receptor interaction_Homo sapiens_hsa045120.79309892
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.79170649
44Pyrimidine metabolism_Homo sapiens_hsa002400.77211200
45Spliceosome_Homo sapiens_hsa030400.76841252
46Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.74857546
47Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74043124
48RNA transport_Homo sapiens_hsa030130.73502568
49RNA degradation_Homo sapiens_hsa030180.73084787
50Tyrosine metabolism_Homo sapiens_hsa003500.72432375
51Colorectal cancer_Homo sapiens_hsa052100.68694684
52Renal cell carcinoma_Homo sapiens_hsa052110.67937056
53Nitrogen metabolism_Homo sapiens_hsa009100.66231690
54Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.65076192
55Metabolic pathways_Homo sapiens_hsa011000.63701883
56Sulfur metabolism_Homo sapiens_hsa009200.63579588
57Butanoate metabolism_Homo sapiens_hsa006500.62985991
58Cysteine and methionine metabolism_Homo sapiens_hsa002700.62417652
59Retinol metabolism_Homo sapiens_hsa008300.62184560
60Tryptophan metabolism_Homo sapiens_hsa003800.61773868
61Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.59085285
622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.59071093
63TGF-beta signaling pathway_Homo sapiens_hsa043500.58471188
64Peroxisome_Homo sapiens_hsa041460.58376753
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.57664914
66p53 signaling pathway_Homo sapiens_hsa041150.57425014
67Fatty acid degradation_Homo sapiens_hsa000710.55725545
68Purine metabolism_Homo sapiens_hsa002300.54742482
69Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.53560376
70Propanoate metabolism_Homo sapiens_hsa006400.52922580
71Oocyte meiosis_Homo sapiens_hsa041140.51594002
72DNA replication_Homo sapiens_hsa030300.50461292
73Selenocompound metabolism_Homo sapiens_hsa004500.47415634
74Glucagon signaling pathway_Homo sapiens_hsa049220.45556368
75Synaptic vesicle cycle_Homo sapiens_hsa047210.44797600
76Dopaminergic synapse_Homo sapiens_hsa047280.42070138
77One carbon pool by folate_Homo sapiens_hsa006700.41801473
78Tight junction_Homo sapiens_hsa045300.40572166
79Olfactory transduction_Homo sapiens_hsa047400.40321607
80Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37783099
81Melanoma_Homo sapiens_hsa052180.37377777
82Base excision repair_Homo sapiens_hsa034100.36962331
83Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36475961
84Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.35922306
85Lysine degradation_Homo sapiens_hsa003100.35202547
86Serotonergic synapse_Homo sapiens_hsa047260.35001266
87Pathways in cancer_Homo sapiens_hsa052000.34915751
88Cell cycle_Homo sapiens_hsa041100.34115260
89Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.34088846
90Notch signaling pathway_Homo sapiens_hsa043300.33606887
91Melanogenesis_Homo sapiens_hsa049160.33303855
92Arachidonic acid metabolism_Homo sapiens_hsa005900.32802885
93Steroid hormone biosynthesis_Homo sapiens_hsa001400.32169429
94Vibrio cholerae infection_Homo sapiens_hsa051100.30759294
95Collecting duct acid secretion_Homo sapiens_hsa049660.28995203
96Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28250568
97Protein digestion and absorption_Homo sapiens_hsa049740.28222144
98Folate biosynthesis_Homo sapiens_hsa007900.28213223
99Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27028842
100Circadian entrainment_Homo sapiens_hsa047130.26472911

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