CCDC58P3

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
1regulation of NFAT protein import into nucleus (GO:0051532)7.95107761
2cytoplasmic mRNA processing body assembly (GO:0033962)7.64873453
3regulation of branching involved in salivary gland morphogenesis (GO:0060693)7.24957081
4neurofilament cytoskeleton organization (GO:0060052)6.92079749
5protein localization to microtubule (GO:0035372)6.74350189
6regulation of meiosis I (GO:0060631)6.66619087
7regulation of glycogen (starch) synthase activity (GO:2000465)6.23798638
8negative regulation of glycogen biosynthetic process (GO:0045719)5.80259177
9positive regulation of action potential (GO:0045760)5.77009109
10type B pancreatic cell proliferation (GO:0044342)5.75888511
11negative regulation of dendrite morphogenesis (GO:0050774)5.09940719
12negative regulation of dendrite development (GO:2000171)5.07309465
13neuromuscular process controlling posture (GO:0050884)5.06943726
14DNA deamination (GO:0045006)5.05519385
15regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.04582779
16ER overload response (GO:0006983)4.97192909
17replication fork processing (GO:0031297)4.87533115
18negative regulation of glycogen metabolic process (GO:0070874)4.68097869
19dopamine biosynthetic process (GO:0042416)4.40484390
20response to insecticide (GO:0017085)4.38146999
21negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)4.37670039
22eosinophil chemotaxis (GO:0048245)4.35580195
23negative regulation of cardiac muscle hypertrophy (GO:0010614)4.33868683
24regulation of Rac protein signal transduction (GO:0035020)4.31583787
25response to auditory stimulus (GO:0010996)4.16977347
26negative regulation of muscle hypertrophy (GO:0014741)4.15942653
27negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)4.10974627
28protein localization to microtubule cytoskeleton (GO:0072698)4.08273112
29pyrimidine-containing compound transmembrane transport (GO:0072531)4.00190185
30eosinophil migration (GO:0072677)3.92255013
31synapsis (GO:0007129)3.74109591
32nucleotide transmembrane transport (GO:1901679)3.73574658
33platelet dense granule organization (GO:0060155)3.71431443
34resolution of meiotic recombination intermediates (GO:0000712)3.70607320
35glucosamine-containing compound catabolic process (GO:1901072)3.70351783
36cytidine deamination (GO:0009972)3.64683061
37cytidine metabolic process (GO:0046087)3.64683061
38cytidine catabolic process (GO:0006216)3.64683061
39male meiosis I (GO:0007141)3.61835250
40negative regulation of immunoglobulin mediated immune response (GO:0002890)3.56825106
41negative regulation of B cell mediated immunity (GO:0002713)3.56825106
42detection of calcium ion (GO:0005513)3.53168595
43postreplication repair (GO:0006301)3.48358375
44signal peptide processing (GO:0006465)3.41765689
45inner mitochondrial membrane organization (GO:0007007)3.41513533
46detection of light stimulus involved in sensory perception (GO:0050962)3.33498000
47detection of light stimulus involved in visual perception (GO:0050908)3.33498000
48vesicle transport along microtubule (GO:0047496)3.33125830
49regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)3.31277364
50protein localization to cytoskeleton (GO:0044380)3.30003364
51regulation of cell maturation (GO:1903429)3.27601639
52positive regulation of meiosis (GO:0045836)3.23887625
53transmission of nerve impulse (GO:0019226)3.19542702
54oligosaccharide biosynthetic process (GO:0009312)3.17356834
55vitamin transmembrane transport (GO:0035461)3.16179612
56cartilage morphogenesis (GO:0060536)3.14232644
57preassembly of GPI anchor in ER membrane (GO:0016254)3.10413446
58regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.09523863
59maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.08892297
60regulation of action potential (GO:0098900)3.07352297
61RNA destabilization (GO:0050779)3.06145621
62otic vesicle formation (GO:0030916)3.04804248
63positive regulation of meiotic cell cycle (GO:0051446)3.01734023
64regulation of DNA methylation (GO:0044030)3.00244275
65DNA double-strand break processing (GO:0000729)2.99393285
66negative regulation of signal transduction by p53 class mediator (GO:1901797)2.99294742
67pyrimidine ribonucleoside catabolic process (GO:0046133)2.99288197
68microtubule nucleation (GO:0007020)2.96444230
69embryonic process involved in female pregnancy (GO:0060136)2.93990242
70exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.92503407
71positive regulation of gluconeogenesis (GO:0045722)2.90540315
72establishment of protein localization to mitochondrial membrane (GO:0090151)2.86755177
73negative regulation of stem cell proliferation (GO:2000647)2.85530984
74retina layer formation (GO:0010842)2.83659795
75positive regulation by host of viral transcription (GO:0043923)2.81199394
76somite rostral/caudal axis specification (GO:0032525)2.79060827
77nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.78812359
78thalamus development (GO:0021794)2.78473628
79protein prenylation (GO:0018342)2.78015409
80prenylation (GO:0097354)2.78015409
81positive regulation of protein export from nucleus (GO:0046827)2.77889817
82protein localization to kinetochore (GO:0034501)2.73197534
83coenzyme A biosynthetic process (GO:0015937)2.72084499
84regulation of vitamin D biosynthetic process (GO:0060556)2.69885854
85modulation by host of viral transcription (GO:0043921)2.69680603
86modulation by host of symbiont transcription (GO:0052472)2.69680603
87acrosome assembly (GO:0001675)2.69667305
88meiosis I (GO:0007127)2.68413346
89catechol-containing compound biosynthetic process (GO:0009713)2.66960671
90catecholamine biosynthetic process (GO:0042423)2.66960671
91DNA strand renaturation (GO:0000733)2.66928274
92galactose metabolic process (GO:0006012)2.64501220
93regulation of hexokinase activity (GO:1903299)2.64118330
94regulation of glucokinase activity (GO:0033131)2.64118330
95alkaloid metabolic process (GO:0009820)2.63643890
96mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.62257207
97positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.62257207
98positive regulation of protein autophosphorylation (GO:0031954)2.61165489
99modulation of transcription in other organism involved in symbiotic interaction (GO:0052312)2.57725054
100positive regulation of T cell apoptotic process (GO:0070234)2.57494784

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.93753656
2BP1_19119308_ChIP-ChIP_Hs578T_Human3.92081963
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.68614107
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.50118327
5POU3F2_20337985_ChIP-ChIP_501MEL_Human3.40017746
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.00357953
7GBX2_23144817_ChIP-Seq_PC3_Human2.98771648
8FUS_26573619_Chip-Seq_HEK293_Human2.97696373
9IRF8_21731497_ChIP-ChIP_J774_Mouse2.89804026
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.78321450
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.43862317
12RBPJ_22232070_ChIP-Seq_NCS_Mouse2.41855542
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.34470972
14HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.26589969
15JUN_21703547_ChIP-Seq_K562_Human2.19066526
16TAF15_26573619_Chip-Seq_HEK293_Human2.15833589
17SUZ12_27294783_Chip-Seq_NPCs_Mouse2.10324604
18P300_19829295_ChIP-Seq_ESCs_Human2.07469960
19PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01935028
20NFE2_27457419_Chip-Seq_LIVER_Mouse1.97172622
21ZFP57_27257070_Chip-Seq_ESCs_Mouse1.93843375
22NOTCH1_21737748_ChIP-Seq_TLL_Human1.91692457
23BMI1_23680149_ChIP-Seq_NPCS_Mouse1.90999625
24EZH2_27294783_Chip-Seq_NPCs_Mouse1.90954562
25SMAD4_21799915_ChIP-Seq_A2780_Human1.89861484
26TCF4_18268006_ChIP-ChIP_LS174T_Human1.89575119
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85242498
28MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.79006439
29PCGF2_27294783_Chip-Seq_NPCs_Mouse1.78229028
30TOP2B_26459242_ChIP-Seq_MCF-7_Human1.77852515
31IGF1R_20145208_ChIP-Seq_DFB_Human1.73995815
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.71616488
33OCT4_21477851_ChIP-Seq_ESCs_Mouse1.70911566
34KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.68847972
35CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.65182209
36SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.63831995
37FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.63831279
38UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.61773666
39SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.61537045
40CRX_20693478_ChIP-Seq_RETINA_Mouse1.51453329
41CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.49821174
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.47965720
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.47792781
44EWS_26573619_Chip-Seq_HEK293_Human1.46496074
45E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43441134
46RUNX2_22187159_ChIP-Seq_PCA_Human1.41839255
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41756784
48FOXM1_23109430_ChIP-Seq_U2OS_Human1.37732174
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.36667418
50ER_23166858_ChIP-Seq_MCF-7_Human1.36210804
51GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.36018353
52RNF2_27304074_Chip-Seq_NSC_Mouse1.35618016
53ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.34848898
54NANOG_18555785_Chip-Seq_ESCs_Mouse1.33762241
55TP53_22573176_ChIP-Seq_HFKS_Human1.32906275
56NANOG_19829295_ChIP-Seq_ESCs_Human1.31041282
57SOX2_19829295_ChIP-Seq_ESCs_Human1.31041282
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.30709099
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29768884
60BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.29651936
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.29363550
62CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.28261035
63VDR_22108803_ChIP-Seq_LS180_Human1.26779865
64CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.26612423
65TAL1_26923725_Chip-Seq_HPCs_Mouse1.26195129
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.26137677
67HTT_18923047_ChIP-ChIP_STHdh_Human1.22492157
68TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19427286
69AR_25329375_ChIP-Seq_VCAP_Human1.18291568
70FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18154976
71EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.17301848
72P53_22387025_ChIP-Seq_ESCs_Mouse1.16929428
73SOX2_18555785_Chip-Seq_ESCs_Mouse1.15371108
74SMAD4_21741376_ChIP-Seq_EPCs_Human1.15333256
75SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.15257035
76PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.13596090
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.13251004
78CMYC_18555785_Chip-Seq_ESCs_Mouse1.11758249
79PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11665500
80BCAT_22108803_ChIP-Seq_LS180_Human1.11186029
81E2F1_18555785_Chip-Seq_ESCs_Mouse1.10508954
82SUZ12_18555785_Chip-Seq_ESCs_Mouse1.10235534
83TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07544768
84EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.05130936
85POU5F1_16153702_ChIP-ChIP_HESCs_Human1.04661825
86FOXA1_27270436_Chip-Seq_PROSTATE_Human1.02939620
87FOXA1_25329375_ChIP-Seq_VCAP_Human1.02939620
88STAT3_23295773_ChIP-Seq_U87_Human1.02325961
89P300_18555785_Chip-Seq_ESCs_Mouse1.01431598
90CBP_20019798_ChIP-Seq_JUKART_Human0.99802995
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.99802995
92FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.99051800
93FLI1_21867929_ChIP-Seq_TH2_Mouse0.98569791
94TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.98406538
95REST_21632747_ChIP-Seq_MESCs_Mouse0.97457819
96STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.97453068
97ZFX_18555785_Chip-Seq_ESCs_Mouse0.95946099
98NMYC_18555785_Chip-Seq_ESCs_Mouse0.95071253
99CTCF_18555785_Chip-Seq_ESCs_Mouse0.94848110
100KLF4_18555785_Chip-Seq_ESCs_Mouse0.93739656

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation8.26470141
2MP0006292_abnormal_olfactory_placode3.26549739
3MP0005075_abnormal_melanosome_morpholog3.25478381
4MP0002277_abnormal_respiratory_mucosa2.93614449
5MP0000566_synostosis2.91129921
6MP0006082_CNS_inflammation2.90619426
7MP0006054_spinal_hemorrhage2.73875645
8MP0000015_abnormal_ear_pigmentation2.52998589
9MP0002095_abnormal_skin_pigmentation2.50949629
10MP0000372_irregular_coat_pigmentation2.26747528
11MP0000371_diluted_coat_color2.05880705
12MP0001529_abnormal_vocalization2.02671424
13MP0002735_abnormal_chemical_nociception1.92915056
14MP0002938_white_spotting1.86415500
15MP0003121_genomic_imprinting1.84874184
16MP0002102_abnormal_ear_morphology1.84761406
17MP0003122_maternal_imprinting1.79195844
18MP0003221_abnormal_cardiomyocyte_apopto1.68083588
19MP0005174_abnormal_tail_pigmentation1.66542505
20MP0005377_hearing/vestibular/ear_phenot1.65320343
21MP0003878_abnormal_ear_physiology1.65320343
22MP0002396_abnormal_hematopoietic_system1.62662884
23MP0000383_abnormal_hair_follicle1.53235875
24MP0001293_anophthalmia1.49958341
25MP0005408_hypopigmentation1.49133775
26MP0005423_abnormal_somatic_nervous1.47845735
27MP0004924_abnormal_behavior1.46201919
28MP0005386_behavior/neurological_phenoty1.46201919
29MP0004885_abnormal_endolymph1.45540271
30MP0003890_abnormal_embryonic-extraembry1.45408280
31MP0001324_abnormal_eye_pigmentation1.36875471
32MP0003195_calcinosis1.35885260
33MP0000778_abnormal_nervous_system1.34717596
34MP0001984_abnormal_olfaction1.28807829
35MP0001905_abnormal_dopamine_level1.27664045
36MP0010329_abnormal_lipoprotein_level1.23386647
37MP0002075_abnormal_coat/hair_pigmentati1.22067925
38MP0003646_muscle_fatigue1.20922816
39MP0008058_abnormal_DNA_repair1.19640351
40MP0000579_abnormal_nail_morphology1.18735469
41MP0004381_abnormal_hair_follicle1.13620806
42MP0002210_abnormal_sex_determination1.13373026
43MP0001186_pigmentation_phenotype1.13016212
44MP0008877_abnormal_DNA_methylation1.12652126
45MP0004142_abnormal_muscle_tone1.12386423
46MP0008872_abnormal_physiological_respon1.05406770
47MP0004742_abnormal_vestibular_system1.05371142
48MP0002572_abnormal_emotion/affect_behav1.04869566
49MP0006036_abnormal_mitochondrial_physio1.04137742
50MP0005171_absent_coat_pigmentation1.03208463
51MP0002090_abnormal_vision1.02070105
52MP0003938_abnormal_ear_development1.00363509
53MP0001501_abnormal_sleep_pattern0.98443985
54MP0003698_abnormal_male_reproductive0.97794126
55MP0005253_abnormal_eye_physiology0.97104038
56MP0003786_premature_aging0.96660411
57MP0001348_abnormal_lacrimal_gland0.96171291
58MP0010678_abnormal_skin_adnexa0.95580883
59MP0002557_abnormal_social/conspecific_i0.95480633
60MP0000653_abnormal_sex_gland0.94682170
61MP0003937_abnormal_limbs/digits/tail_de0.93836700
62MP0001145_abnormal_male_reproductive0.93561286
63MP0001929_abnormal_gametogenesis0.93395622
64MP0001851_eye_inflammation0.91220814
65MP0005671_abnormal_response_to0.90935342
66MP0006035_abnormal_mitochondrial_morpho0.89770924
67MP0005197_abnormal_uvea_morphology0.87981134
68MP0001485_abnormal_pinna_reflex0.87542893
69MP0010094_abnormal_chromosome_stability0.86681597
70MP0009250_abnormal_appendicular_skeleto0.85606629
71MP0002063_abnormal_learning/memory/cond0.85186761
72MP0006072_abnormal_retinal_apoptosis0.84435714
73MP0002098_abnormal_vibrissa_morphology0.83088196
74MP0002177_abnormal_outer_ear0.81029689
75MP0005448_abnormal_energy_balance0.79128340
76MP0002272_abnormal_nervous_system0.78880665
77MP0006276_abnormal_autonomic_nervous0.76659968
78MP0005187_abnormal_penis_morphology0.74376234
79MP0001119_abnormal_female_reproductive0.74291396
80MP0003755_abnormal_palate_morphology0.71871479
81MP0005464_abnormal_platelet_physiology0.70077253
82MP0002282_abnormal_trachea_morphology0.69684758
83MP0003137_abnormal_impulse_conducting0.68010052
84MP0000955_abnormal_spinal_cord0.66030217
85MP0000647_abnormal_sebaceous_gland0.65448198
86MP0001486_abnormal_startle_reflex0.65090987
87MP0002752_abnormal_somatic_nervous0.65083690
88MP0003763_abnormal_thymus_physiology0.64106728
89MP0003635_abnormal_synaptic_transmissio0.63844203
90MP0002168_other_aberrant_phenotype0.63622313
91MP0002233_abnormal_nose_morphology0.62963262
92MP0009745_abnormal_behavioral_response0.62196636
93MP0000026_abnormal_inner_ear0.61994583
94MP0005395_other_phenotype0.60944634
95MP0002160_abnormal_reproductive_system0.60633390
96MP0005389_reproductive_system_phenotype0.60054011
97MP0009765_abnormal_xenobiotic_induced0.59941565
98MP0005452_abnormal_adipose_tissue0.59644206
99MP0002067_abnormal_sensory_capabilities0.58600629
100MP0003718_maternal_effect0.58347745

Predicted human phenotypes

RankGene SetZ-score
1Amyotrophic lateral sclerosis (HP:0007354)7.02378250
2Limb hypertonia (HP:0002509)5.81107678
3Abnormality of the corticospinal tract (HP:0002492)4.78228693
4Abnormal pupillary function (HP:0007686)4.52593819
5Limb dystonia (HP:0002451)4.45552362
6Hypothermia (HP:0002045)4.07838251
7Episodic fever (HP:0001954)3.96547088
8Atrophy/Degeneration involving motor neurons (HP:0007373)3.85792277
9Pancreatic islet-cell hyperplasia (HP:0004510)3.81222286
10Short tibia (HP:0005736)3.75617981
11Aplasia/Hypoplasia of the tibia (HP:0005772)3.56605238
12Toxemia of pregnancy (HP:0100603)3.34434833
13Congenital sensorineural hearing impairment (HP:0008527)3.20649569
14Acute encephalopathy (HP:0006846)3.15583758
15Volvulus (HP:0002580)3.12534186
16Spastic tetraparesis (HP:0001285)3.08770768
17Stomatitis (HP:0010280)3.00807996
18Neonatal hypoglycemia (HP:0001998)2.97136035
19Hypoplasia of the capital femoral epiphysis (HP:0003090)2.89392465
20Acute necrotizing encephalopathy (HP:0006965)2.77397292
21Albinism (HP:0001022)2.74809260
22Bile duct proliferation (HP:0001408)2.71607166
23Abnormal biliary tract physiology (HP:0012439)2.71607166
24Inability to walk (HP:0002540)2.68948883
25Severe visual impairment (HP:0001141)2.65809246
26Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.62720545
27Short 4th metacarpal (HP:0010044)2.62720545
28Increased nuchal translucency (HP:0010880)2.62249134
29Aqueductal stenosis (HP:0002410)2.58503491
30Sensory axonal neuropathy (HP:0003390)2.55824096
31Neoplasm of the adrenal cortex (HP:0100641)2.52691589
32Progressive macrocephaly (HP:0004481)2.52644507
33Iris hypopigmentation (HP:0007730)2.52372028
34Long clavicles (HP:0000890)2.46826170
35Patchy hypopigmentation of hair (HP:0011365)2.46104353
36Malignant hyperthermia (HP:0002047)2.43979130
37Lower limb hyperreflexia (HP:0002395)2.43277795
38Chronic diarrhea (HP:0002028)2.42024675
39Cerebral edema (HP:0002181)2.40549285
40Abnormality of methionine metabolism (HP:0010901)2.39931408
41Ocular albinism (HP:0001107)2.38228356
42White forelock (HP:0002211)2.36078615
43Mesomelia (HP:0003027)2.31592733
44Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.31282579
45Absent epiphyses (HP:0010577)2.31282579
46Abnormal mitochondria in muscle tissue (HP:0008316)2.28361862
47Abnormal lung lobation (HP:0002101)2.26416752
48Aplasia/Hypoplasia of the uvula (HP:0010293)2.25463946
49Cerebral hypomyelination (HP:0006808)2.25429189
5011 pairs of ribs (HP:0000878)2.21520230
51Molar tooth sign on MRI (HP:0002419)2.21213392
52Abnormality of midbrain morphology (HP:0002418)2.21213392
53Limited elbow extension (HP:0001377)2.19925737
54Elfin facies (HP:0004428)2.19224824
55Generalized hypopigmentation (HP:0007513)2.18968495
56Keratoconjunctivitis sicca (HP:0001097)2.18368899
57Dyschromatopsia (HP:0007641)2.16865726
58Megalencephaly (HP:0001355)2.15144735
59Abnormality of the labia minora (HP:0012880)2.14386797
60Abnormality of the carotid arteries (HP:0005344)2.13485162
61Congenital stationary night blindness (HP:0007642)2.13371216
62Abnormality of the pancreatic islet cells (HP:0006476)2.12896132
63Abnormality of endocrine pancreas physiology (HP:0012093)2.12896132
64Hyperglycinemia (HP:0002154)2.07877875
65Meckel diverticulum (HP:0002245)2.07769032
66Barrel-shaped chest (HP:0001552)2.05512304
67Abnormality of the lower motor neuron (HP:0002366)2.02814662
68Abnormality of the ileum (HP:0001549)2.02597766
69Keratoconjunctivitis (HP:0001096)2.02406074
70Lip pit (HP:0100267)2.02364555
71Mitochondrial inheritance (HP:0001427)2.01793542
72Spastic gait (HP:0002064)2.00090678
73Achilles tendon contracture (HP:0001771)1.99803491
74Disproportionate short-trunk short stature (HP:0003521)1.97725519
75Abnormality of aspartate family amino acid metabolism (HP:0010899)1.97706960
76Overriding aorta (HP:0002623)1.97258134
77Upper motor neuron abnormality (HP:0002127)1.96511688
78Morphological abnormality of the pyramidal tract (HP:0002062)1.95708549
79Nonimmune hydrops fetalis (HP:0001790)1.94027658
803-Methylglutaconic aciduria (HP:0003535)1.93456588
81Renal cortical cysts (HP:0000803)1.92247382
82Emotional lability (HP:0000712)1.88745883
83Hand muscle atrophy (HP:0009130)1.88167544
84Fibular aplasia (HP:0002990)1.87601541
85Tetraplegia (HP:0002445)1.87342309
86Increased mean platelet volume (HP:0011877)1.85945916
87Xerostomia (HP:0000217)1.83798455
88Thyroid-stimulating hormone excess (HP:0002925)1.83598063
89Abnormality of the Achilles tendon (HP:0005109)1.83309634
90Premature graying of hair (HP:0002216)1.82296352
91Increased CSF lactate (HP:0002490)1.81717484
92Congenital, generalized hypertrichosis (HP:0004540)1.81573247
93Abnormality of the 4th metacarpal (HP:0010012)1.80648012
94Abnormality of the preputium (HP:0100587)1.80100876
95Constricted visual fields (HP:0001133)1.79195092
96Aplasia involving bones of the extremities (HP:0009825)1.79066015
97Aplasia involving bones of the upper limbs (HP:0009823)1.79066015
98Aplasia of the phalanges of the hand (HP:0009802)1.79066015
99Hematochezia (HP:0002573)1.76623709
100Lethargy (HP:0001254)1.76261759

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PNCK9.60631556
2MAP3K104.07683029
3CAMK1G3.63557994
4ERBB32.83135914
5MINK12.69230141
6WEE12.53850896
7BCKDK2.37533842
8SGK22.04646922
9LIMK11.98193717
10PLK41.91476101
11CLK11.78545826
12EIF2AK31.75485760
13TRIM281.74691248
14MARK11.64983123
15FRK1.60064318
16SGK4941.59986450
17SGK2231.59986450
18ZAK1.55180367
19PRKCH1.38411826
20SGK31.33657709
21RPS6KA21.14245706
22PLK21.12684353
23EIF2AK11.11717150
24WNK31.04667605
25RPS6KC11.04567999
26RPS6KL11.04567999
27SRPK11.04304650
28RPS6KA61.01891913
29BUB10.97926204
30PIM20.97694715
31TAF10.95244289
32NUAK10.94327064
33STK160.92719684
34TSSK60.91907101
35CSNK1G10.91483087
36MAP3K120.90598864
37CDK30.90481491
38PIK3CA0.89564058
39ADRBK20.86709547
40MAP2K10.84443579
41EIF2AK20.82468064
42PINK10.80743368
43PLK30.80585756
44ATR0.78587693
45VRK10.76219182
46DYRK20.75538984
47RPS6KB10.73507086
48PRKCG0.72852792
49CDC70.72773488
50MAPK130.72310470
51MKNK20.62161730
52MST40.61863263
53MARK30.61193794
54TGFBR20.57371004
55GRK50.56686624
56SGK10.56354927
57TXK0.53090884
58ACVR1B0.52555172
59PBK0.52362936
60GRK10.52241811
61MAP2K70.51923982
62PIM10.50042988
63MYLK0.47532009
64ROCK20.43319927
65INSRR0.42497754
66ADRBK10.42215116
67ARAF0.41512981
68PLK10.40173473
69CAMK10.39973686
70CSNK1A1L0.38929283
71RPS6KA10.38012737
72TAOK30.36147421
73DYRK1A0.35512110
74CDK180.35035391
75GSK3A0.34909697
76BRSK20.34703092
77FGFR20.34397670
78NEK20.34023496
79ATM0.33994609
80PAK30.33982468
81BCR0.33906003
82ITK0.33745252
83ROCK10.33307400
84TEC0.30914768
85CSNK1A10.29638839
86CDK150.29420606
87PRKCE0.29416692
88ERBB40.29045701
89CCNB10.28073913
90CSNK1G30.27659871
91FGR0.26691128
92KDR0.26488939
93CDK140.25745734
94WNK10.25596974
95WNK40.24304587
96CDK11A0.24022938
97PRKCZ0.23975858
98TNIK0.23355810
99AURKA0.22278861
100JAK30.20992034

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030604.32275151
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.31232148
3Proteasome_Homo sapiens_hsa030502.82121790
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.42300609
5Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.13991001
6Arginine biosynthesis_Homo sapiens_hsa002202.11900966
7Dorso-ventral axis formation_Homo sapiens_hsa043202.08356982
8Non-homologous end-joining_Homo sapiens_hsa034501.99265856
9RNA polymerase_Homo sapiens_hsa030201.86196888
10Parkinsons disease_Homo sapiens_hsa050121.85951278
11Propanoate metabolism_Homo sapiens_hsa006401.84311860
12Primary immunodeficiency_Homo sapiens_hsa053401.83697839
13RNA degradation_Homo sapiens_hsa030181.81505987
14Maturity onset diabetes of the young_Homo sapiens_hsa049501.72556218
15Fatty acid biosynthesis_Homo sapiens_hsa000611.63912743
16Steroid biosynthesis_Homo sapiens_hsa001001.62664588
17Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.52181708
18Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52123583
19Selenocompound metabolism_Homo sapiens_hsa004501.49859791
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.48564415
21GABAergic synapse_Homo sapiens_hsa047271.48530543
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.44056001
23Oxidative phosphorylation_Homo sapiens_hsa001901.40032110
24Taste transduction_Homo sapiens_hsa047421.39371489
25Butanoate metabolism_Homo sapiens_hsa006501.38824611
26Oocyte meiosis_Homo sapiens_hsa041141.24494886
27Histidine metabolism_Homo sapiens_hsa003401.16198509
28Purine metabolism_Homo sapiens_hsa002301.14029369
29Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13673244
30Morphine addiction_Homo sapiens_hsa050321.13014112
31Fanconi anemia pathway_Homo sapiens_hsa034601.11427391
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09118305
33Cell cycle_Homo sapiens_hsa041101.08385414
34Tyrosine metabolism_Homo sapiens_hsa003501.07240895
35Insulin secretion_Homo sapiens_hsa049111.06723603
36Chemical carcinogenesis_Homo sapiens_hsa052041.01093521
37Vitamin digestion and absorption_Homo sapiens_hsa049770.99962785
38Phototransduction_Homo sapiens_hsa047440.99872768
39Alzheimers disease_Homo sapiens_hsa050100.98802755
40Nitrogen metabolism_Homo sapiens_hsa009100.97211691
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96575468
42Olfactory transduction_Homo sapiens_hsa047400.95548566
43Pentose and glucuronate interconversions_Homo sapiens_hsa000400.95501365
44TGF-beta signaling pathway_Homo sapiens_hsa043500.92849255
45Rheumatoid arthritis_Homo sapiens_hsa053230.91502845
46p53 signaling pathway_Homo sapiens_hsa041150.91459293
47Sulfur metabolism_Homo sapiens_hsa009200.91447662
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90974421
49Autoimmune thyroid disease_Homo sapiens_hsa053200.90182881
50Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.89508453
51Retinol metabolism_Homo sapiens_hsa008300.89016336
52Allograft rejection_Homo sapiens_hsa053300.88374649
53SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86620887
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86327404
55Fatty acid metabolism_Homo sapiens_hsa012120.86299461
56Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85583816
57Tryptophan metabolism_Homo sapiens_hsa003800.85412290
58mRNA surveillance pathway_Homo sapiens_hsa030150.84026966
59Peroxisome_Homo sapiens_hsa041460.84024271
60Basal transcription factors_Homo sapiens_hsa030220.83273609
61Basal cell carcinoma_Homo sapiens_hsa052170.82881706
62Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.78987710
63Graft-versus-host disease_Homo sapiens_hsa053320.75695405
64Homologous recombination_Homo sapiens_hsa034400.75063016
65Ether lipid metabolism_Homo sapiens_hsa005650.72559899
66Melanogenesis_Homo sapiens_hsa049160.72191074
67Phenylalanine metabolism_Homo sapiens_hsa003600.71876919
68Dopaminergic synapse_Homo sapiens_hsa047280.69275235
69Pyrimidine metabolism_Homo sapiens_hsa002400.69198735
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.68458224
71Huntingtons disease_Homo sapiens_hsa050160.68269413
72Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.67642731
73Circadian rhythm_Homo sapiens_hsa047100.66210261
74Fatty acid elongation_Homo sapiens_hsa000620.65576685
75Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62434044
76Hematopoietic cell lineage_Homo sapiens_hsa046400.61293808
77Caffeine metabolism_Homo sapiens_hsa002320.61024947
78Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.60512239
79HTLV-I infection_Homo sapiens_hsa051660.60323503
80Starch and sucrose metabolism_Homo sapiens_hsa005000.57018023
81Type I diabetes mellitus_Homo sapiens_hsa049400.56127049
82Antigen processing and presentation_Homo sapiens_hsa046120.54941813
83Ovarian steroidogenesis_Homo sapiens_hsa049130.54058944
84Alcoholism_Homo sapiens_hsa050340.53272418
85cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53072892
86Hedgehog signaling pathway_Homo sapiens_hsa043400.52463274
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.52138463
88Amphetamine addiction_Homo sapiens_hsa050310.51356898
89Colorectal cancer_Homo sapiens_hsa052100.48058506
90Cocaine addiction_Homo sapiens_hsa050300.47869280
91RNA transport_Homo sapiens_hsa030130.47507629
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47112963
93Chemokine signaling pathway_Homo sapiens_hsa040620.46217556
94Estrogen signaling pathway_Homo sapiens_hsa049150.45698426
95Hippo signaling pathway_Homo sapiens_hsa043900.44607980
96Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44569036
97Fatty acid degradation_Homo sapiens_hsa000710.44212024
98Circadian entrainment_Homo sapiens_hsa047130.41611727
99Measles_Homo sapiens_hsa051620.41568567
100Sulfur relay system_Homo sapiens_hsa041220.41181982

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