CHCHD3P3

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
1striated muscle atrophy (GO:0014891)6.00033829
2protein neddylation (GO:0045116)5.81681650
3skeletal muscle adaptation (GO:0043501)5.74953539
4response to gravity (GO:0009629)5.38414889
5regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.37979649
6muscle atrophy (GO:0014889)5.28600811
7sequestering of actin monomers (GO:0042989)5.18068582
8lateral sprouting from an epithelium (GO:0060601)5.16693026
9protein K6-linked ubiquitination (GO:0085020)5.04180162
10mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.00014291
11negative regulation of membrane potential (GO:0045837)4.57997379
12energy coupled proton transport, down electrochemical gradient (GO:0015985)4.40584508
13ATP synthesis coupled proton transport (GO:0015986)4.40584508
14negative regulation of skeletal muscle tissue development (GO:0048642)4.37074332
15positive regulation of gastrulation (GO:2000543)4.25467653
16regulation of glycogen (starch) synthase activity (GO:2000465)4.02758942
17positive regulation of catecholamine secretion (GO:0033605)3.90978614
18mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.78656408
19positive regulation of hair follicle development (GO:0051798)3.69061832
20positive regulation of hair cycle (GO:0042635)3.69061832
21negative regulation of T cell differentiation in thymus (GO:0033085)3.61947092
22establishment of protein localization to mitochondrial membrane (GO:0090151)3.59784838
23kidney morphogenesis (GO:0060993)3.52499450
24respiratory electron transport chain (GO:0022904)3.51768161
25electron transport chain (GO:0022900)3.48436991
26response to muscle activity (GO:0014850)3.46780321
27chromatin remodeling at centromere (GO:0031055)3.46059376
28positive regulation of circadian rhythm (GO:0042753)3.44939199
29inositol phosphate dephosphorylation (GO:0046855)3.41946699
30phosphorylated carbohydrate dephosphorylation (GO:0046838)3.41946699
31negative regulation of muscle hypertrophy (GO:0014741)3.36108145
32dopaminergic neuron differentiation (GO:0071542)3.32111796
33regulation of mitochondrial translation (GO:0070129)3.29824381
34piRNA metabolic process (GO:0034587)3.29216026
35rRNA catabolic process (GO:0016075)3.27951870
36negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.21212114
37regulation of skeletal muscle contraction (GO:0014819)3.20282419
38motile cilium assembly (GO:0044458)3.17718830
39CENP-A containing nucleosome assembly (GO:0034080)3.16301514
40protein localization to chromosome, centromeric region (GO:0071459)3.15919440
41cell wall macromolecule catabolic process (GO:0016998)3.14014274
42GTP biosynthetic process (GO:0006183)3.11137439
43epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.09028332
44regulation of mitotic spindle checkpoint (GO:1903504)3.08121534
45regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.08121534
46midbrain development (GO:0030901)3.06981579
47kinetochore assembly (GO:0051382)3.04734913
48regulation of hair follicle development (GO:0051797)3.02339470
49positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003573.00235359
50positive regulation of interleukin-17 production (GO:0032740)2.97732790
51muscle filament sliding (GO:0030049)2.97282457
52actin-myosin filament sliding (GO:0033275)2.97282457
53positive regulation of prostaglandin secretion (GO:0032308)2.96042312
54lymph vessel development (GO:0001945)2.90853518
55thalamus development (GO:0021794)2.88515385
56mitochondrial respiratory chain complex I assembly (GO:0032981)2.85475912
57NADH dehydrogenase complex assembly (GO:0010257)2.85475912
58mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.85475912
59sleep (GO:0030431)2.82044814
60protein K11-linked ubiquitination (GO:0070979)2.79793185
61RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.78853268
62tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.78853268
63cardiac left ventricle morphogenesis (GO:0003214)2.77834644
64inositol phosphate catabolic process (GO:0071545)2.77300008
65hematopoietic stem cell proliferation (GO:0071425)2.76742650
66cellular response to interleukin-15 (GO:0071350)2.76637979
67cytidine deamination (GO:0009972)2.75250145
68cytidine metabolic process (GO:0046087)2.75250145
69cytidine catabolic process (GO:0006216)2.75250145
70chaperone-mediated protein transport (GO:0072321)2.75147175
71DNA integration (GO:0015074)2.75133141
72somatic stem cell division (GO:0048103)2.73381132
73regulation of feeding behavior (GO:0060259)2.71907882
74positive regulation of embryonic development (GO:0040019)2.71864612
75lens morphogenesis in camera-type eye (GO:0002089)2.71307719
76histone exchange (GO:0043486)2.70780582
77negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.68985370
78postsynaptic membrane organization (GO:0001941)2.68919784
79interferon-gamma production (GO:0032609)2.68602135
80regulation of circadian sleep/wake cycle (GO:0042749)2.68416085
81regulation of circadian sleep/wake cycle, sleep (GO:0045187)2.68416085
82mismatch repair (GO:0006298)2.66691215
83positive regulation of natural killer cell differentiation (GO:0032825)2.66556761
84purine nucleoside triphosphate biosynthetic process (GO:0009145)2.65842045
85presynaptic membrane assembly (GO:0097105)2.64719545
86ribosomal small subunit assembly (GO:0000028)2.64700051
87purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.64392017
88peristalsis (GO:0030432)2.63445540
89hydrogen ion transmembrane transport (GO:1902600)2.62728839
90negative regulation of actin filament bundle assembly (GO:0032232)2.62469136
91regulation of cytokine production involved in inflammatory response (GO:1900015)2.61984339
92anterograde synaptic vesicle transport (GO:0048490)2.56908156
93cell wall macromolecule metabolic process (GO:0044036)2.55462018
94antigen processing and presentation via MHC class Ib (GO:0002475)2.54064741
95UTP biosynthetic process (GO:0006228)2.52530193
96negative regulation of stress fiber assembly (GO:0051497)2.50802833
97ATP biosynthetic process (GO:0006754)2.49630304
98natural killer cell differentiation (GO:0001779)2.49445887
99protein complex biogenesis (GO:0070271)2.49132879
100heterochromatin organization (GO:0070828)2.49044818

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.87818020
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.06584535
3RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.55132813
4EZH2_22144423_ChIP-Seq_EOC_Human3.37780419
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.33281741
6EST1_17652178_ChIP-ChIP_JURKAT_Human2.81296525
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.65896994
8FUS_26573619_Chip-Seq_HEK293_Human2.47001498
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.42000559
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.37344105
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.35652322
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.33611939
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.27058193
14FOXM1_23109430_ChIP-Seq_U2OS_Human2.25087473
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.23325289
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.16202557
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.06280741
18BMI1_23680149_ChIP-Seq_NPCS_Mouse1.99170900
19ZNF274_21170338_ChIP-Seq_K562_Hela1.98968510
20TAF15_26573619_Chip-Seq_HEK293_Human1.96533556
21KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.95238736
22KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.95238736
23KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.95238736
24ELK1_19687146_ChIP-ChIP_HELA_Human1.80442873
25CBX2_27304074_Chip-Seq_ESCs_Mouse1.80183415
26EZH2_27304074_Chip-Seq_ESCs_Mouse1.77204844
27SRF_21415370_ChIP-Seq_HL-1_Mouse1.76537697
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.72156048
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71739304
30VDR_23849224_ChIP-Seq_CD4+_Human1.70221270
31CREB1_15753290_ChIP-ChIP_HEK293T_Human1.69879276
32POU5F1_16153702_ChIP-ChIP_HESCs_Human1.69659662
33EED_16625203_ChIP-ChIP_MESCs_Mouse1.67721691
34VDR_22108803_ChIP-Seq_LS180_Human1.67266941
35EWS_26573619_Chip-Seq_HEK293_Human1.61925115
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60818005
37FOXP3_21729870_ChIP-Seq_TREG_Human1.59642665
38GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.59349961
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.58156800
40TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.55110166
41PCGF2_27294783_Chip-Seq_ESCs_Mouse1.55007112
42JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.54621139
43FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.54575000
44NOTCH1_21737748_ChIP-Seq_TLL_Human1.53548349
45ETS1_20019798_ChIP-Seq_JURKAT_Human1.52415018
46XRN2_22483619_ChIP-Seq_HELA_Human1.52045212
47IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.50109432
48TP63_19390658_ChIP-ChIP_HaCaT_Human1.46853153
49CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.44073061
50GATA1_26923725_Chip-Seq_HPCs_Mouse1.44051926
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.43843226
52EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.41773305
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.40533568
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.34246008
55RNF2_27304074_Chip-Seq_NSC_Mouse1.32226942
56PCGF2_27294783_Chip-Seq_NPCs_Mouse1.32085285
57AR_21572438_ChIP-Seq_LNCaP_Human1.31225571
58MYC_18940864_ChIP-ChIP_HL60_Human1.31217660
59POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30498655
60NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.29326846
61TP53_22573176_ChIP-Seq_HFKS_Human1.28569201
62SOX2_18555785_ChIP-Seq_MESCs_Mouse1.24805578
63CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24622225
64TTF2_22483619_ChIP-Seq_HELA_Human1.24057945
65PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.22236764
66MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.19212464
67SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.17407249
68IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.17235717
69JARID2_20064375_ChIP-Seq_MESCs_Mouse1.16591952
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.15265584
71ER_23166858_ChIP-Seq_MCF-7_Human1.15066709
72SOX2_16153702_ChIP-ChIP_HESCs_Human1.11990566
73CBP_20019798_ChIP-Seq_JUKART_Human1.09238415
74IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09238415
75HOXB4_20404135_ChIP-ChIP_EML_Mouse1.09150327
76JARID2_20075857_ChIP-Seq_MESCs_Mouse1.08680124
77UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04695531
78MYC_18358816_ChIP-ChIP_MESCs_Mouse1.03505888
79CTBP2_25329375_ChIP-Seq_LNCAP_Human1.00643608
80NFE2_27457419_Chip-Seq_LIVER_Mouse1.00197497
81SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99909355
82SOX9_26525672_Chip-Seq_HEART_Mouse0.97954305
83NANOG_16153702_ChIP-ChIP_HESCs_Human0.97447229
84TCF4_22108803_ChIP-Seq_LS180_Human0.95728943
85EZH2_27294783_Chip-Seq_NPCs_Mouse0.93543756
86BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.93386873
87RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.91773334
88CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.90855345
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.89245287
90MYC_19030024_ChIP-ChIP_MESCs_Mouse0.89173409
91RNF2_27304074_Chip-Seq_ESCs_Mouse0.88260635
92TAF2_19829295_ChIP-Seq_ESCs_Human0.88222255
93ELF1_17652178_ChIP-ChIP_JURKAT_Human0.85423370
94AR_20517297_ChIP-Seq_VCAP_Human0.85072504
95RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.84872538
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.83259594
97ESR1_15608294_ChIP-ChIP_MCF-7_Human0.82564243
98P300_19829295_ChIP-Seq_ESCs_Human0.78686039
99IGF1R_20145208_ChIP-Seq_DFB_Human0.78474515
100BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.78253043

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001346_abnormal_lacrimal_gland4.61843661
2MP0000566_synostosis3.70443564
3MP0005646_abnormal_pituitary_gland3.19250601
4MP0006292_abnormal_olfactory_placode3.02930680
5MP0010030_abnormal_orbit_morphology2.91846263
6MP0000569_abnormal_digit_pigmentation2.89132700
7MP0005645_abnormal_hypothalamus_physiol2.66382648
8MP0002938_white_spotting2.64066942
9MP0005075_abnormal_melanosome_morpholog2.63155991
10MP0001293_anophthalmia2.51655409
11MP0006072_abnormal_retinal_apoptosis2.24559955
12MP0004145_abnormal_muscle_electrophysio2.21824040
13MP0000749_muscle_degeneration2.21206176
14MP0003937_abnormal_limbs/digits/tail_de2.15185969
15MP0002736_abnormal_nociception_after1.90939016
16MP0003136_yellow_coat_color1.82508750
17MP0002095_abnormal_skin_pigmentation1.82481106
18MP0002269_muscular_atrophy1.81806409
19MP0004142_abnormal_muscle_tone1.78970479
20MP0002234_abnormal_pharynx_morphology1.77771056
21MP0004885_abnormal_endolymph1.77689739
22MP0001501_abnormal_sleep_pattern1.72849767
23MP0000049_abnormal_middle_ear1.67627984
24MP0000631_abnormal_neuroendocrine_gland1.67218371
25MP0005671_abnormal_response_to1.65509850
26MP0003938_abnormal_ear_development1.62115421
27MP0000747_muscle_weakness1.60760601
28MP0001905_abnormal_dopamine_level1.58006797
29MP0001324_abnormal_eye_pigmentation1.55568403
30MP0002163_abnormal_gland_morphology1.52827975
31MP0005174_abnormal_tail_pigmentation1.46253552
32MP0005623_abnormal_meninges_morphology1.43009157
33MP0005379_endocrine/exocrine_gland_phen1.41924346
34MP0001286_abnormal_eye_development1.39245313
35MP0009250_abnormal_appendicular_skeleto1.36203954
36MP0000685_abnormal_immune_system1.35875356
37MP0002396_abnormal_hematopoietic_system1.35088940
38MP0002735_abnormal_chemical_nociception1.34420824
39MP0005408_hypopigmentation1.33679972
40MP0003111_abnormal_nucleus_morphology1.32741615
41MP0008995_early_reproductive_senescence1.32246081
42MP0001968_abnormal_touch/_nociception1.30620555
43MP0000733_abnormal_muscle_development1.28433208
44MP0003718_maternal_effect1.25483172
45MP0006035_abnormal_mitochondrial_morpho1.24351350
46MP0002909_abnormal_adrenal_gland1.23782610
47MP0004043_abnormal_pH_regulation1.23229312
48MP0002108_abnormal_muscle_morphology1.18120442
49MP0001502_abnormal_circadian_rhythm1.17727223
50MP0008058_abnormal_DNA_repair1.17195907
51MP0002877_abnormal_melanocyte_morpholog1.16973602
52MP0005084_abnormal_gallbladder_morpholo1.16507725
53MP0003959_abnormal_lean_body1.15085462
54MP0003786_premature_aging1.12314460
55MP0002697_abnormal_eye_size1.12002519
56MP0001879_abnormal_lymphatic_vessel1.11311362
57MP0010094_abnormal_chromosome_stability1.10231972
58MP0000372_irregular_coat_pigmentation1.09679989
59MP0009745_abnormal_behavioral_response1.08884776
60MP0002090_abnormal_vision1.06447482
61MP0002733_abnormal_thermal_nociception1.03796516
62MP0001919_abnormal_reproductive_system0.99653445
63MP0005391_vision/eye_phenotype0.98409975
64MP0002075_abnormal_coat/hair_pigmentati0.97246005
65MP0005551_abnormal_eye_electrophysiolog0.94103326
66MP0004019_abnormal_vitamin_homeostasis0.93595978
67MP0009697_abnormal_copulation0.93343294
68MP0005253_abnormal_eye_physiology0.93336626
69MP0002734_abnormal_mechanical_nocicepti0.91906039
70MP0004036_abnormal_muscle_relaxation0.91544366
71MP0003890_abnormal_embryonic-extraembry0.86886873
72MP0004147_increased_porphyrin_level0.86668579
73MP0005167_abnormal_blood-brain_barrier0.86511057
74MP0004130_abnormal_muscle_cell0.86034789
75MP0001119_abnormal_female_reproductive0.84791596
76MP0002092_abnormal_eye_morphology0.84365257
77MP0003252_abnormal_bile_duct0.78805559
78MP0010307_abnormal_tumor_latency0.78466153
79MP0009053_abnormal_anal_canal0.77815673
80MP0005195_abnormal_posterior_eye0.77398991
81MP0000516_abnormal_urinary_system0.76166469
82MP0005367_renal/urinary_system_phenotyp0.76166469
83MP0002932_abnormal_joint_morphology0.74868847
84MP0002138_abnormal_hepatobiliary_system0.74083411
85MP0002277_abnormal_respiratory_mucosa0.73636634
86MP0002210_abnormal_sex_determination0.72342136
87MP0001486_abnormal_startle_reflex0.72129398
88MP0001485_abnormal_pinna_reflex0.70828924
89MP0000759_abnormal_skeletal_muscle0.70568643
90MP0008770_decreased_survivor_rate0.70027573
91MP0002295_abnormal_pulmonary_circulatio0.69937452
92MP0002064_seizures0.69912770
93MP0000026_abnormal_inner_ear0.69862340
94MP0008877_abnormal_DNA_methylation0.69602319
95MP0002102_abnormal_ear_morphology0.67265213
96MP0002876_abnormal_thyroid_physiology0.66905736
97MP0001873_stomach_inflammation0.65481606
98MP0003936_abnormal_reproductive_system0.65410746
99MP0002067_abnormal_sensory_capabilities0.65077160
100MP0000015_abnormal_ear_pigmentation0.64492432

Predicted human phenotypes

RankGene SetZ-score
1Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.02403128
2Decreased activity of mitochondrial respiratory chain (HP:0008972)4.02403128
3Oligodactyly (hands) (HP:0001180)3.76028341
4Palpebral edema (HP:0100540)3.60286324
5Absent phalangeal crease (HP:0006109)3.52995583
63-Methylglutaconic aciduria (HP:0003535)3.39962324
7Abnormality of the pons (HP:0007361)3.33416408
8Congenital, generalized hypertrichosis (HP:0004540)3.31155083
9Abnormal finger flexion creases (HP:0006143)3.24545597
10Mitochondrial inheritance (HP:0001427)3.14538043
11Split foot (HP:0001839)3.06108930
12Distal arthrogryposis (HP:0005684)3.05980486
13Hepatocellular necrosis (HP:0001404)3.03635695
14Abnormal number of erythroid precursors (HP:0012131)2.93473447
15Hypoplasia of the pons (HP:0012110)2.93084326
16Symphalangism affecting the phalanges of the hand (HP:0009773)2.91122998
17Hepatic necrosis (HP:0002605)2.82577718
18Aplasia/Hypoplasia of the sacrum (HP:0008517)2.73401145
19Increased CSF lactate (HP:0002490)2.60441826
20Oligodactyly (HP:0012165)2.57479487
21Anterior segment dysgenesis (HP:0007700)2.56759711
22Abnormality of the phalanges of the 2nd finger (HP:0009541)2.55148408
23Esophageal atresia (HP:0002032)2.52575911
24Stomach cancer (HP:0012126)2.52199313
25Nemaline bodies (HP:0003798)2.50531264
26Exercise-induced muscle cramps (HP:0003710)2.49164756
27Rhinitis (HP:0012384)2.40202291
28Stomatitis (HP:0010280)2.32616849
29Abnormality of the phalanges of the 5th finger (HP:0004213)2.31118895
30Concave nail (HP:0001598)2.28687877
31Rectovaginal fistula (HP:0000143)2.28477705
32Rectal fistula (HP:0100590)2.28477705
33Lipid accumulation in hepatocytes (HP:0006561)2.27189383
34Pancreatic fibrosis (HP:0100732)2.26854368
35Increased hepatocellular lipid droplets (HP:0006565)2.25264804
36Increased serum lactate (HP:0002151)2.23116577
37Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.22794117
38Muscle hypertrophy of the lower extremities (HP:0008968)2.22406687
39Type II lissencephaly (HP:0007260)2.21841392
40Abnormality of cells of the erythroid lineage (HP:0012130)2.20960984
41Colon cancer (HP:0003003)2.15642763
42Mask-like facies (HP:0000298)2.14493142
43Aplastic anemia (HP:0001915)2.12159012
44Abnormality of the middle phalanges of the toes (HP:0010183)2.11556820
45Pancreatic cysts (HP:0001737)2.11497752
46Pheochromocytoma (HP:0002666)2.07725689
47Lactic acidosis (HP:0003128)2.05567896
48Acute necrotizing encephalopathy (HP:0006965)2.03936997
49Pancytopenia (HP:0001876)2.03857183
50Calf muscle hypertrophy (HP:0008981)2.01621370
51Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.00167027
52Abnormality of T cell physiology (HP:0011840)1.99931401
53Abnormal mitochondria in muscle tissue (HP:0008316)1.99547003
54Dry hair (HP:0011359)1.98893107
55Muscle fiber inclusion bodies (HP:0100299)1.97764939
56Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.96963839
57Type I transferrin isoform profile (HP:0003642)1.95941284
58Anophthalmia (HP:0000528)1.95603815
59Cutaneous finger syndactyly (HP:0010554)1.95170872
60Increased intramyocellular lipid droplets (HP:0012240)1.93319295
61Focal motor seizures (HP:0011153)1.92998403
62Decreased electroretinogram (ERG) amplitude (HP:0000654)1.92706106
63Birth length less than 3rd percentile (HP:0003561)1.92267799
64Abnormal protein glycosylation (HP:0012346)1.90124429
65Abnormal glycosylation (HP:0012345)1.90124429
66Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.90124429
67Abnormal protein N-linked glycosylation (HP:0012347)1.90124429
68Pendular nystagmus (HP:0012043)1.89798304
69Severe visual impairment (HP:0001141)1.89368959
70Methylmalonic acidemia (HP:0002912)1.88801702
71Anencephaly (HP:0002323)1.88308583
72Methylmalonic aciduria (HP:0012120)1.87551452
73Cutaneous syndactyly (HP:0012725)1.86099999
74Maternal diabetes (HP:0009800)1.84398139
75Intestinal fistula (HP:0100819)1.84180983
76Reduced antithrombin III activity (HP:0001976)1.82547456
77IgG deficiency (HP:0004315)1.81581981
78Azoospermia (HP:0000027)1.80596734
79Short middle phalanx of the 5th finger (HP:0004220)1.80555055
80Abnormal respiratory motile cilium morphology (HP:0005938)1.78815866
81Abnormal respiratory epithelium morphology (HP:0012253)1.78815866
82Severe muscular hypotonia (HP:0006829)1.78573107
83Nephronophthisis (HP:0000090)1.76751572
84Hyperinsulinemic hypoglycemia (HP:0000825)1.76339636
85Sclerocornea (HP:0000647)1.76217295
86Ulnar deviation of the wrist (HP:0003049)1.75197828
87Progressive macrocephaly (HP:0004481)1.75055809
88Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.74928126
89Abolished electroretinogram (ERG) (HP:0000550)1.74815026
90Abnormality of the parietal bone (HP:0002696)1.74311668
91Aplasia/hypoplasia of the uterus (HP:0008684)1.74033596
92Acute encephalopathy (HP:0006846)1.73746535
93Conjunctival hamartoma (HP:0100780)1.70471801
94Abnormality of the renal medulla (HP:0100957)1.70038600
95Neuroendocrine neoplasm (HP:0100634)1.69216186
96Abnormality of the proximal phalanges of the hand (HP:0009834)1.68916540
97Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.68273767
98Abnormality of the 2nd finger (HP:0004100)1.66861956
99True hermaphroditism (HP:0010459)1.65072321
100Abnormality of midbrain morphology (HP:0002418)1.63461536

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.89181116
2TXK4.25357268
3ZAK4.17773740
4TAOK33.45760908
5VRK12.85744778
6NUAK12.65227839
7TAF12.49771332
8BUB12.40641942
9TLK12.33539568
10GRK12.28213751
11ADRBK22.19764327
12MST42.19679824
13CDK32.00094885
14BRSK21.89678331
15TEC1.80950760
16MAP3K101.80174216
17CSNK1G11.71508645
18CSNK1G31.64749988
19TNIK1.64310374
20KDR1.63782911
21CSNK1A1L1.52884865
22AURKA1.50720019
23BRD41.49820757
24CHEK21.49450954
25CSNK1G21.45860594
26TIE11.34314825
27OBSCN1.32506330
28WNK41.26854909
29DYRK21.26808077
30PHKG21.25953234
31PHKG11.25953234
32PIK3CG1.23419691
33MAPK71.12928081
34CDK41.11727851
35MAP4K21.09484884
36WNK11.05381513
37CAMKK21.05287802
38EIF2AK21.03005709
39FLT31.02465992
40MAPKAPK50.98703408
41ITK0.97143419
42GRK60.95744923
43TESK20.94423617
44MAPK130.94099636
45PRKCQ0.88393877
46BRSK10.85635205
47EPHA40.83048238
48TRPM70.81554147
49PLK40.80655676
50NEK10.80360702
51ATR0.78220185
52TNK20.75948791
53PLK30.74145512
54AURKB0.73627136
55IKBKB0.71981691
56MAPKAPK30.68540540
57CCNB10.67334570
58RPS6KA50.66667594
59KIT0.65054105
60PRKCG0.64891103
61SYK0.63705954
62SRPK10.63002928
63NEK20.61747099
64GRK50.58752991
65MAP3K140.58472809
66BTK0.58165892
67BCKDK0.58075996
68JAK30.56667430
69FES0.56548553
70PRKCH0.51629040
71AKT20.51044100
72PLK10.50816051
73PRKD30.50563473
74GRK70.49302769
75CDK70.46131289
76MAP2K70.43825168
77LYN0.43683811
78ADRBK10.42882548
79FGFR20.42623832
80PKN20.41975862
81MAP3K40.39758638
82ATM0.39357934
83MAP2K20.36096483
84LIMK10.35426209
85SCYL20.35047764
86MKNK20.34561878
87PINK10.34020609
88CSNK2A10.32651895
89CDC70.31860656
90TESK10.31828230
91PRKG10.31270002
92CAMK2G0.31150189
93STK110.30302227
94PRKACA0.28730640
95PRKD20.25815881
96EIF2AK30.25749173
97PRKAA20.25558771
98WEE10.25253510
99NEK60.24931251
100NLK0.24853586

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.10975185
2Parkinsons disease_Homo sapiens_hsa050123.66689389
3Proteasome_Homo sapiens_hsa030503.13536032
4Hedgehog signaling pathway_Homo sapiens_hsa043403.13059009
5Ribosome_Homo sapiens_hsa030103.08357894
6Protein export_Homo sapiens_hsa030602.68987540
7Huntingtons disease_Homo sapiens_hsa050162.66671584
8Alzheimers disease_Homo sapiens_hsa050102.49712365
9Homologous recombination_Homo sapiens_hsa034402.45314092
10Basal cell carcinoma_Homo sapiens_hsa052172.36888893
11Cardiac muscle contraction_Homo sapiens_hsa042602.33792068
12Systemic lupus erythematosus_Homo sapiens_hsa053222.25561741
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.03649135
14RNA polymerase_Homo sapiens_hsa030202.01371400
15Spliceosome_Homo sapiens_hsa030401.97101487
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95271589
17Intestinal immune network for IgA production_Homo sapiens_hsa046721.93781775
18Primary immunodeficiency_Homo sapiens_hsa053401.63979946
19Fanconi anemia pathway_Homo sapiens_hsa034601.60504956
20Vitamin digestion and absorption_Homo sapiens_hsa049771.56187476
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54643231
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.48817389
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.45047925
24Linoleic acid metabolism_Homo sapiens_hsa005911.40278984
25Allograft rejection_Homo sapiens_hsa053301.39012517
26Mismatch repair_Homo sapiens_hsa034301.35305665
27DNA replication_Homo sapiens_hsa030301.33136079
28Nitrogen metabolism_Homo sapiens_hsa009101.32156469
29Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.31182174
30Autoimmune thyroid disease_Homo sapiens_hsa053201.28156547
31Graft-versus-host disease_Homo sapiens_hsa053321.25001887
32RNA degradation_Homo sapiens_hsa030181.21128676
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.20830817
34Tryptophan metabolism_Homo sapiens_hsa003801.18959492
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.17551889
36Type I diabetes mellitus_Homo sapiens_hsa049401.13433499
37Ether lipid metabolism_Homo sapiens_hsa005651.11248554
38Propanoate metabolism_Homo sapiens_hsa006401.09288947
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.09038684
40Wnt signaling pathway_Homo sapiens_hsa043101.08196024
41Antigen processing and presentation_Homo sapiens_hsa046121.04713506
42Regulation of autophagy_Homo sapiens_hsa041401.03995639
43Alcoholism_Homo sapiens_hsa050341.01325444
44Pyrimidine metabolism_Homo sapiens_hsa002401.00687523
45Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.99416773
46Pyruvate metabolism_Homo sapiens_hsa006200.99138093
47Asthma_Homo sapiens_hsa053100.97155695
48Cyanoamino acid metabolism_Homo sapiens_hsa004600.97128261
49Nicotine addiction_Homo sapiens_hsa050330.89479762
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89343313
51Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87222960
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.84581971
53Purine metabolism_Homo sapiens_hsa002300.80443231
54Basal transcription factors_Homo sapiens_hsa030220.79505513
55Base excision repair_Homo sapiens_hsa034100.79114134
56p53 signaling pathway_Homo sapiens_hsa041150.72999756
57Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.71891733
58RNA transport_Homo sapiens_hsa030130.70855051
59Fatty acid biosynthesis_Homo sapiens_hsa000610.68418182
60HTLV-I infection_Homo sapiens_hsa051660.68303969
61One carbon pool by folate_Homo sapiens_hsa006700.67371301
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.65384200
63Nucleotide excision repair_Homo sapiens_hsa034200.63884857
64Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62996624
65Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59863297
66Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59668142
67Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.58468722
68Rheumatoid arthritis_Homo sapiens_hsa053230.57938087
69Oocyte meiosis_Homo sapiens_hsa041140.57562363
70Hippo signaling pathway_Homo sapiens_hsa043900.54493327
71Tight junction_Homo sapiens_hsa045300.54174009
72Melanogenesis_Homo sapiens_hsa049160.53866536
73Ovarian steroidogenesis_Homo sapiens_hsa049130.53555154
74Morphine addiction_Homo sapiens_hsa050320.52414136
75Metabolic pathways_Homo sapiens_hsa011000.51528368
76Serotonergic synapse_Homo sapiens_hsa047260.51360821
77Oxytocin signaling pathway_Homo sapiens_hsa049210.51108664
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45698955
79Viral myocarditis_Homo sapiens_hsa054160.42602550
80Folate biosynthesis_Homo sapiens_hsa007900.42429790
81Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41295315
82Chemical carcinogenesis_Homo sapiens_hsa052040.41021006
83Herpes simplex infection_Homo sapiens_hsa051680.39904372
84Fatty acid elongation_Homo sapiens_hsa000620.37513491
85Circadian entrainment_Homo sapiens_hsa047130.36244514
86Transcriptional misregulation in cancer_Homo sapiens_hsa052020.36194175
87T cell receptor signaling pathway_Homo sapiens_hsa046600.33775091
88Fatty acid metabolism_Homo sapiens_hsa012120.33641553
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33480962
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29209283
91Epstein-Barr virus infection_Homo sapiens_hsa051690.27388567
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.26524708
93Olfactory transduction_Homo sapiens_hsa047400.26334496
94Gastric acid secretion_Homo sapiens_hsa049710.25608930
95Long-term depression_Homo sapiens_hsa047300.25068431
96Viral carcinogenesis_Homo sapiens_hsa052030.24046568
97Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.23533532
98mRNA surveillance pathway_Homo sapiens_hsa030150.23075909
99Sulfur relay system_Homo sapiens_hsa041220.21126197
100Selenocompound metabolism_Homo sapiens_hsa004500.20831295

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