C15ORF41

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.35780236
2sarcomere organization (GO:0045214)4.02288012
3regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.98122752
4regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.92311448
5membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67681320
6regulation of relaxation of muscle (GO:1901077)3.66704251
7regulation of cell communication by electrical coupling (GO:0010649)3.62346165
8behavioral response to nicotine (GO:0035095)3.53692851
9cardiac myofibril assembly (GO:0055003)3.46020130
10regulation of actin filament-based movement (GO:1903115)3.41335619
11mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.36158722
12mitochondrial respiratory chain complex I assembly (GO:0032981)3.36158722
13NADH dehydrogenase complex assembly (GO:0010257)3.36158722
14negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.34970966
15detection of calcium ion (GO:0005513)3.32549079
16cellular ketone body metabolic process (GO:0046950)3.31756901
17positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.28973091
18adult heart development (GO:0007512)3.24935092
19positive regulation of action potential (GO:0045760)3.23124431
20otic vesicle formation (GO:0030916)3.19599819
21cardiac muscle cell development (GO:0055013)3.17623750
22regulation of membrane repolarization (GO:0060306)3.12919615
23water-soluble vitamin biosynthetic process (GO:0042364)3.12790192
24protein complex biogenesis (GO:0070271)3.12097504
25regulation of action potential (GO:0098900)3.09529407
26cardiac muscle hypertrophy (GO:0003300)3.07509721
27response to caffeine (GO:0031000)3.07363519
28myofibril assembly (GO:0030239)3.07335908
29muscle filament sliding (GO:0030049)3.05808551
30actin-myosin filament sliding (GO:0033275)3.05808551
31negative regulation of potassium ion transmembrane transport (GO:1901380)3.05434285
32cardiac muscle contraction (GO:0060048)3.00539277
33ketone body metabolic process (GO:1902224)2.97038804
34mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.94661400
35ventricular cardiac muscle cell action potential (GO:0086005)2.93521640
36positive regulation of heart rate (GO:0010460)2.92615982
37striated muscle hypertrophy (GO:0014897)2.90148529
38ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.90142039
39cardiac muscle cell action potential (GO:0086001)2.87734194
40positive regulation of mitochondrial fission (GO:0090141)2.86343011
41positive regulation of cardiac muscle cell differentiation (GO:2000727)2.85627988
42heart process (GO:0003015)2.84381635
43heart contraction (GO:0060047)2.84381635
44mitochondrial respiratory chain complex assembly (GO:0033108)2.84350931
45cardiac cell development (GO:0055006)2.84205617
46ubiquinone biosynthetic process (GO:0006744)2.82721489
47mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.82699994
48cardiac muscle tissue morphogenesis (GO:0055008)2.80504451
49presynaptic membrane assembly (GO:0097105)2.79801221
50regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.78268579
51nonmotile primary cilium assembly (GO:0035058)2.75311723
52ubiquinone metabolic process (GO:0006743)2.74860083
53regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.73323209
54aspartate family amino acid catabolic process (GO:0009068)2.71833800
55regulation of heart rate (GO:0002027)2.70179627
56cardiac muscle cell action potential involved in contraction (GO:0086002)2.69459771
57regulation of striated muscle contraction (GO:0006942)2.65717956
58actin-mediated cell contraction (GO:0070252)2.64690064
59somite development (GO:0061053)2.63849772
60response to pheromone (GO:0019236)2.63814226
61regulation of cardiac muscle cell contraction (GO:0086004)2.62825347
62cullin deneddylation (GO:0010388)2.62556774
63action potential (GO:0001508)2.61760550
64protein-cofactor linkage (GO:0018065)2.61202600
65pyrimidine nucleobase catabolic process (GO:0006208)2.58617390
66neuronal action potential (GO:0019228)2.58369893
67muscle tissue morphogenesis (GO:0060415)2.57557931
68cell communication involved in cardiac conduction (GO:0086065)2.57382931
69presynaptic membrane organization (GO:0097090)2.56563681
70cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.55199267
71regulation of sarcomere organization (GO:0060297)2.54343733
72L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.52423765
73regulation of acyl-CoA biosynthetic process (GO:0050812)2.52096967
74replication fork processing (GO:0031297)2.51875893
75sulfation (GO:0051923)2.50610344
76regulation of the force of heart contraction (GO:0002026)2.50599528
77relaxation of cardiac muscle (GO:0055119)2.49743508
78cornea development in camera-type eye (GO:0061303)2.49416218
79positive regulation of potassium ion transmembrane transport (GO:1901381)2.48901646
80regulation of sequestering of triglyceride (GO:0010889)2.48742093
81response to inactivity (GO:0014854)2.48302551
82negative regulation of heart rate (GO:0010459)2.48253933
83respiratory chain complex IV assembly (GO:0008535)2.47796381
84protein localization to cilium (GO:0061512)2.47516906
85DNA double-strand break processing (GO:0000729)2.47392771
86muscle hypertrophy (GO:0014896)2.47108869
87cardiac chamber formation (GO:0003207)2.45819855
88negative regulation of cytosolic calcium ion concentration (GO:0051481)2.43178710
89ATP synthesis coupled proton transport (GO:0015986)2.41711780
90energy coupled proton transport, down electrochemical gradient (GO:0015985)2.41711780
91protein polyglutamylation (GO:0018095)2.41236158
92actomyosin structure organization (GO:0031032)2.39717745
93cardiac ventricle formation (GO:0003211)2.38630602
94respiratory electron transport chain (GO:0022904)2.38267815
95kynurenine metabolic process (GO:0070189)2.38234206
96retinal ganglion cell axon guidance (GO:0031290)2.37401176
97regulation of skeletal muscle contraction (GO:0014819)2.36834041
98electron transport chain (GO:0022900)2.36789036
99cell proliferation in forebrain (GO:0021846)2.36490368
100regulation of cardiac muscle contraction (GO:0055117)2.36485870

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.51145906
2VDR_22108803_ChIP-Seq_LS180_Human3.20631022
3GBX2_23144817_ChIP-Seq_PC3_Human3.17283617
4ZNF274_21170338_ChIP-Seq_K562_Hela3.07596339
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.79284947
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.58671169
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.54656543
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.49539572
9FUS_26573619_Chip-Seq_HEK293_Human2.47695187
10IGF1R_20145208_ChIP-Seq_DFB_Human2.46010597
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.42804187
12HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.37603419
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.21091743
14EWS_26573619_Chip-Seq_HEK293_Human2.19798590
15SALL1_21062744_ChIP-ChIP_HESCs_Human2.16732270
16TAF15_26573619_Chip-Seq_HEK293_Human2.14634650
17CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13238688
18FLI1_27457419_Chip-Seq_LIVER_Mouse2.05552474
19* P300_19829295_ChIP-Seq_ESCs_Human2.02714443
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91875245
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.84023613
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79522109
23* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.76988802
24PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75183034
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.73341421
26CBX2_27304074_Chip-Seq_ESCs_Mouse1.70863840
27MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.69158108
28SMAD4_21799915_ChIP-Seq_A2780_Human1.68709838
29ER_23166858_ChIP-Seq_MCF-7_Human1.62886669
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.60111548
31PIAS1_25552417_ChIP-Seq_VCAP_Human1.59537903
32POU5F1_16153702_ChIP-ChIP_HESCs_Human1.58222220
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.56703823
34* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54547581
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.54115349
36RBPJ_22232070_ChIP-Seq_NCS_Mouse1.54026233
37GABP_17652178_ChIP-ChIP_JURKAT_Human1.53165324
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53149640
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51962059
40RNF2_27304074_Chip-Seq_NSC_Mouse1.49499129
41* STAT3_23295773_ChIP-Seq_U87_Human1.47884811
42BCAT_22108803_ChIP-Seq_LS180_Human1.46906608
43KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.46738348
44MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45264466
45PCGF2_27294783_Chip-Seq_NPCs_Mouse1.45040479
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.44047766
47E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.44031811
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43962333
49FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.43620582
50OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38815881
51* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38222554
52* TCF4_23295773_ChIP-Seq_U87_Human1.38057610
53SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37409972
54NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.36740155
55* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36166833
56EED_16625203_ChIP-ChIP_MESCs_Mouse1.32914244
57* SMAD3_21741376_ChIP-Seq_EPCs_Human1.32752582
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.30933400
59EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.27626816
60AR_25329375_ChIP-Seq_VCAP_Human1.26808869
61IRF1_19129219_ChIP-ChIP_H3396_Human1.24852481
62NFE2_27457419_Chip-Seq_LIVER_Mouse1.24035747
63EST1_17652178_ChIP-ChIP_JURKAT_Human1.23134503
64ELK1_19687146_ChIP-ChIP_HELA_Human1.22264389
65* CBP_20019798_ChIP-Seq_JUKART_Human1.19388475
66* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19388475
67EZH2_27304074_Chip-Seq_ESCs_Mouse1.16549221
68* TCF4_22108803_ChIP-Seq_LS180_Human1.15960537
69KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15634484
70FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15454650
71* RUNX2_22187159_ChIP-Seq_PCA_Human1.13463235
72TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13429338
73RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.12633400
74EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12207930
75CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.12019533
76TP53_22573176_ChIP-Seq_HFKS_Human1.11900092
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.11739437
78TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.11532155
79SOX2_19829295_ChIP-Seq_ESCs_Human1.10404202
80NANOG_19829295_ChIP-Seq_ESCs_Human1.10404202
81MYC_18940864_ChIP-ChIP_HL60_Human1.08147222
82TAL1_26923725_Chip-Seq_HPCs_Mouse1.07628018
83* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.07047743
84CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04827581
85TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04161496
86POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04161496
87TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.02061556
88SOX9_26525672_Chip-Seq_HEART_Mouse1.01769100
89SMAD4_21741376_ChIP-Seq_EPCs_Human1.00606374
90CRX_20693478_ChIP-Seq_RETINA_Mouse0.99667342
91P53_22387025_ChIP-Seq_ESCs_Mouse0.99374012
92* SOX2_21211035_ChIP-Seq_LN229_Gbm0.99159562
93SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.98670992
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97326850
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96939625
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.96466572
97FLI1_21867929_ChIP-Seq_TH2_Mouse0.95967522
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.95595672
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94349497
100GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.94084230

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis4.98889724
2MP0004215_abnormal_myocardial_fiber3.65688602
3MP0004084_abnormal_cardiac_muscle3.38167793
4MP0003646_muscle_fatigue2.99070623
5MP0004145_abnormal_muscle_electrophysio2.54714460
6MP0008775_abnormal_heart_ventricle2.37890598
7MP0000751_myopathy2.24484897
8MP0006292_abnormal_olfactory_placode2.19823580
9MP0002102_abnormal_ear_morphology2.11042573
10MP0003137_abnormal_impulse_conducting2.08736423
11MP0004036_abnormal_muscle_relaxation1.95088338
12MP0008877_abnormal_DNA_methylation1.89109877
13MP0004484_altered_response_of1.84551857
14MP0005670_abnormal_white_adipose1.77950879
15MP0002972_abnormal_cardiac_muscle1.73169269
16MP0006072_abnormal_retinal_apoptosis1.72898300
17MP0005330_cardiomyopathy1.71458902
18MP0001984_abnormal_olfaction1.63411295
19MP0004085_abnormal_heartbeat1.63187682
20MP0005620_abnormal_muscle_contractility1.58059511
21MP0005551_abnormal_eye_electrophysiolog1.55813544
22MP0000749_muscle_degeneration1.53865309
23MP0001529_abnormal_vocalization1.53420511
24MP0002160_abnormal_reproductive_system1.52580610
25MP0002127_abnormal_cardiovascular_syste1.43678615
26MP0000631_abnormal_neuroendocrine_gland1.40323082
27MP0001485_abnormal_pinna_reflex1.39905350
28MP0002234_abnormal_pharynx_morphology1.39411162
29MP0009046_muscle_twitch1.39083743
30MP0005385_cardiovascular_system_phenoty1.38541973
31MP0001544_abnormal_cardiovascular_syste1.38541973
32MP0003567_abnormal_fetal_cardiomyocyte1.38031550
33MP0003880_abnormal_central_pattern1.35259917
34MP0005253_abnormal_eye_physiology1.33551542
35MP0000049_abnormal_middle_ear1.28708040
36MP0005646_abnormal_pituitary_gland1.27523656
37MP0005645_abnormal_hypothalamus_physiol1.27140855
38MP0004885_abnormal_endolymph1.27027093
39MP0002272_abnormal_nervous_system1.26221785
40MP0003787_abnormal_imprinting1.25797082
41MP0004133_heterotaxia1.25778677
42MP0006276_abnormal_autonomic_nervous1.24411096
43MP0009745_abnormal_behavioral_response1.23807363
44MP0000372_irregular_coat_pigmentation1.23408863
45MP0000569_abnormal_digit_pigmentation1.21878230
46MP0004142_abnormal_muscle_tone1.21692569
47MP0001968_abnormal_touch/_nociception1.21664462
48MP0002735_abnormal_chemical_nociception1.19450386
49MP0002106_abnormal_muscle_physiology1.18782196
50MP0002938_white_spotting1.17064971
51MP0001486_abnormal_startle_reflex1.16088480
52MP0005423_abnormal_somatic_nervous1.15893923
53MP0008058_abnormal_DNA_repair1.15464224
54MP0005187_abnormal_penis_morphology1.15135333
55MP0003937_abnormal_limbs/digits/tail_de1.15042327
56MP0005386_behavior/neurological_phenoty1.11861319
57MP0004924_abnormal_behavior1.11861319
58MP0003195_calcinosis1.10317560
59MP0003136_yellow_coat_color1.08528118
60MP0004130_abnormal_muscle_cell1.08100025
61MP0005389_reproductive_system_phenotype1.05706395
62MP0005369_muscle_phenotype1.04102485
63MP0002736_abnormal_nociception_after1.03456103
64MP0002638_abnormal_pupillary_reflex1.03308790
65MP0008789_abnormal_olfactory_epithelium1.02400419
66MP0006138_congestive_heart_failure0.94218778
67MP0002751_abnormal_autonomic_nervous0.94101427
68MP0001986_abnormal_taste_sensitivity0.93761475
69MP0003890_abnormal_embryonic-extraembry0.93654674
70MP0004087_abnormal_muscle_fiber0.93598876
71MP0000778_abnormal_nervous_system0.92477431
72MP0003121_genomic_imprinting0.90595676
73MP0000750_abnormal_muscle_regeneration0.90148056
74MP0003718_maternal_effect0.88785739
75MP0008872_abnormal_physiological_respon0.85697908
76MP0000427_abnormal_hair_cycle0.85240033
77MP0003119_abnormal_digestive_system0.83009267
78MP0006036_abnormal_mitochondrial_physio0.81537565
79MP0001293_anophthalmia0.80920712
80MP0010368_abnormal_lymphatic_system0.80552461
81MP0002557_abnormal_social/conspecific_i0.80304315
82MP0009697_abnormal_copulation0.79783584
83MP0005266_abnormal_metabolism0.79364914
84MP0002269_muscular_atrophy0.78643720
85MP0001661_extended_life_span0.78627332
86MP0003950_abnormal_plasma_membrane0.76642614
87MP0010630_abnormal_cardiac_muscle0.76612804
88MP0002752_abnormal_somatic_nervous0.76272448
89MP0002572_abnormal_emotion/affect_behav0.76156225
90MP0002064_seizures0.76046067
91MP0002653_abnormal_ependyma_morphology0.75888547
92MP0005195_abnormal_posterior_eye0.75205295
93MP0002822_catalepsy0.71797430
94MP0000026_abnormal_inner_ear0.71312498
95MP0002067_abnormal_sensory_capabilities0.71161324
96MP0002928_abnormal_bile_duct0.70935691
97MP0006035_abnormal_mitochondrial_morpho0.70565887
98MP0003635_abnormal_synaptic_transmissio0.68321137
99MP0005084_abnormal_gallbladder_morpholo0.67592222
100MP0009250_abnormal_appendicular_skeleto0.66599654

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)4.09902898
2Bundle branch block (HP:0011710)3.76459165
3Atrial fibrillation (HP:0005110)3.59904466
4Pancreatic cysts (HP:0001737)3.56325759
5Pancreatic fibrosis (HP:0100732)3.51048467
6Syncope (HP:0001279)3.38576581
7True hermaphroditism (HP:0010459)3.36376988
8Primary atrial arrhythmia (HP:0001692)3.29005017
9Supraventricular tachycardia (HP:0004755)3.17459623
10Supraventricular arrhythmia (HP:0005115)3.05080615
11Calf muscle hypertrophy (HP:0008981)3.02605684
12Abnormality of the calf musculature (HP:0001430)3.02258179
13Nephronophthisis (HP:0000090)2.96112819
14Abnormality of midbrain morphology (HP:0002418)2.85346907
15Molar tooth sign on MRI (HP:0002419)2.85346907
16Muscle hypertrophy of the lower extremities (HP:0008968)2.84313098
17Acute necrotizing encephalopathy (HP:0006965)2.79094178
18Left ventricular hypertrophy (HP:0001712)2.68128462
19Medial flaring of the eyebrow (HP:0010747)2.64873198
20Ventricular tachycardia (HP:0004756)2.60967529
21Methylmalonic acidemia (HP:0002912)2.60921357
22Lipoatrophy (HP:0100578)2.58458868
23Abnormality of the renal cortex (HP:0011035)2.52999245
24Mitochondrial inheritance (HP:0001427)2.52686310
25Progressive macrocephaly (HP:0004481)2.51909818
26Abnormal mitochondria in muscle tissue (HP:0008316)2.51132376
27Increased CSF lactate (HP:0002490)2.47532600
28Abnormality of the renal medulla (HP:0100957)2.45723701
29Hepatic necrosis (HP:0002605)2.32897457
30Acute encephalopathy (HP:0006846)2.30645016
31Renal cortical cysts (HP:0000803)2.29550347
32Palpitations (HP:0001962)2.29475121
33Abnormality of the labia minora (HP:0012880)2.25765489
34Aplasia/Hypoplasia of the tibia (HP:0005772)2.25234806
35Congenital stationary night blindness (HP:0007642)2.22482126
36Hepatocellular necrosis (HP:0001404)2.21656720
37Ventricular arrhythmia (HP:0004308)2.19824670
38Gait imbalance (HP:0002141)2.19758532
39Congenital primary aphakia (HP:0007707)2.17734634
40Aplasia/Hypoplasia of the tongue (HP:0010295)2.15924921
41Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.10816807
42Abnormality of alanine metabolism (HP:0010916)2.10816807
43Hyperalaninemia (HP:0003348)2.10816807
44Genital tract atresia (HP:0001827)2.10335548
45Sclerocornea (HP:0000647)2.09968820
46Right ventricular cardiomyopathy (HP:0011663)2.08592288
47Type II lissencephaly (HP:0007260)2.08198217
48Furrowed tongue (HP:0000221)2.05193050
49Short tibia (HP:0005736)2.05126771
50Methylmalonic aciduria (HP:0012120)2.04480765
51Vaginal atresia (HP:0000148)2.04317415
52Dilated cardiomyopathy (HP:0001644)2.04311222
53Chronic hepatic failure (HP:0100626)2.03561650
54Heart block (HP:0012722)2.02251326
55Genetic anticipation (HP:0003743)2.01027046
56Hyperventilation (HP:0002883)2.00068179
57Cystic liver disease (HP:0006706)1.98638386
58Anencephaly (HP:0002323)1.97870466
59Nephrogenic diabetes insipidus (HP:0009806)1.96741946
60Increased hepatocellular lipid droplets (HP:0006565)1.94268929
61Hyperglycinemia (HP:0002154)1.92572721
62Gaze-evoked nystagmus (HP:0000640)1.91282737
63Tubular atrophy (HP:0000092)1.90444657
64Pendular nystagmus (HP:0012043)1.90154553
65Lipid accumulation in hepatocytes (HP:0006561)1.88000755
66Hyporeflexia of lower limbs (HP:0002600)1.86366773
67Small hand (HP:0200055)1.85313844
68Morphological abnormality of the middle ear (HP:0008609)1.83473041
69Broad-based gait (HP:0002136)1.83463980
70Increased serum lactate (HP:0002151)1.82947209
71Male pseudohermaphroditism (HP:0000037)1.82649581
72Abolished electroretinogram (ERG) (HP:0000550)1.82241389
73Cerebral edema (HP:0002181)1.81980501
74Optic nerve hypoplasia (HP:0000609)1.81437686
75Stenosis of the external auditory canal (HP:0000402)1.80273801
76Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.79859365
77Optic disc pallor (HP:0000543)1.79684093
78Progressive cerebellar ataxia (HP:0002073)1.77948367
79Lactic acidosis (HP:0003128)1.76378793
80Glycosuria (HP:0003076)1.75583123
81Abnormality of urine glucose concentration (HP:0011016)1.75583123
82Postaxial foot polydactyly (HP:0001830)1.74718238
83Rimmed vacuoles (HP:0003805)1.74708503
84Attenuation of retinal blood vessels (HP:0007843)1.71837878
85Subaortic stenosis (HP:0001682)1.71260825
86Abnormality of the left ventricular outflow tract (HP:0011103)1.71260825
87Ventricular fibrillation (HP:0001663)1.70341184
88Postaxial hand polydactyly (HP:0001162)1.70293165
89Hypoplasia of the uterus (HP:0000013)1.69044694
90Bile duct proliferation (HP:0001408)1.67924476
91Abnormal biliary tract physiology (HP:0012439)1.67924476
92Pachygyria (HP:0001302)1.67327978
93Supernumerary spleens (HP:0009799)1.67182809
94Prolonged QT interval (HP:0001657)1.66955222
95Absent rod-and cone-mediated responses on ERG (HP:0007688)1.66599408
96Abnormal atrioventricular conduction (HP:0005150)1.65923683
97Colon cancer (HP:0003003)1.65539854
98Hypothermia (HP:0002045)1.65158356
99Abnormality of the renal collecting system (HP:0004742)1.64641971
100Abnormal EKG (HP:0003115)1.62838681

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.34023402
2OBSCN2.84048752
3MAP4K22.68812271
4MYLK2.63720235
5MAP3K42.29173128
6CASK2.18018074
7PINK12.11091922
8MARK12.09015640
9ZAK2.05222628
10PAK31.98773349
11WNK31.93840304
12BMPR1B1.92733506
13TNIK1.86911491
14ADRBK21.82633489
15GRK11.79508438
16NUAK11.71824342
17BCKDK1.58947912
18LIMK11.49648997
19MAPK131.46261454
20TRIM281.43586672
21MAP2K71.42000531
22DMPK1.40203321
23PRKCE1.39390235
24WNK41.39156149
25INSRR1.38518513
26MKNK21.34025909
27DYRK21.29561357
28STK391.28501277
29PLK21.27334721
30GRK71.25100320
31BRSK21.22800381
32ERBB31.20872060
33FLT31.17343719
34STK38L1.08978460
35OXSR11.07977475
36PLK41.07255164
37EPHA31.02382528
38PHKG21.00746450
39PHKG11.00746450
40BCR0.98689174
41PDK20.95525704
42ACVR1B0.94418993
43CAMK2D0.94334171
44TIE10.91250254
45PLK30.90150598
46PIK3CA0.89820383
47PNCK0.89354452
48MUSK0.89063634
49VRK10.87679659
50CAMK2A0.87641267
51FGFR20.85587784
52STK160.84414450
53STK40.83989877
54NEK10.83850682
55NEK90.83713720
56CSNK1G10.80313116
57EIF2AK30.78463149
58ADRBK10.78148382
59VRK20.75186668
60BUB10.74747410
61CSNK1G30.74517866
62CSNK1G20.73282106
63MKNK10.70457360
64PLK10.69563084
65CSNK1A1L0.68615249
66CAMK10.68503893
67PKN10.68130676
68MST40.67458119
69TAF10.66981880
70PRKACA0.63293539
71PRKCG0.62151525
72TTN0.61716948
73PRKAA10.60307522
74TLK10.60277435
75CDC70.59002258
76STK30.56202979
77WEE10.55967693
78LATS10.55961752
79NTRK30.55869924
80TGFBR10.53172287
81ROCK10.51262655
82DYRK30.51022930
83CDK190.50544356
84CAMK2B0.47877557
85TRPM70.46191354
86EPHA40.44541885
87FER0.43968247
88PRKAA20.42909702
89NTRK20.41956629
90NEK20.41862966
91DYRK1A0.41173055
92SGK20.39066142
93PRKG10.38466376
94CAMK40.38160524
95SRPK10.36727246
96ATM0.36673156
97PRKACG0.36580912
98ATR0.34232170
99RPS6KA50.33656387
100NLK0.32661825

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.12464450
2Cardiac muscle contraction_Homo sapiens_hsa042603.02287190
3Oxidative phosphorylation_Homo sapiens_hsa001902.75955075
4Parkinsons disease_Homo sapiens_hsa050122.50205530
5Propanoate metabolism_Homo sapiens_hsa006402.44167935
6Phototransduction_Homo sapiens_hsa047442.24324565
7Butanoate metabolism_Homo sapiens_hsa006502.18150210
8Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.10688198
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.10061654
10Dilated cardiomyopathy_Homo sapiens_hsa054141.99009543
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.91966034
12Huntingtons disease_Homo sapiens_hsa050161.68112898
13Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.65994190
14Protein export_Homo sapiens_hsa030601.65559496
15Alzheimers disease_Homo sapiens_hsa050101.63763244
16Nicotine addiction_Homo sapiens_hsa050331.59921771
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.57612546
18Tryptophan metabolism_Homo sapiens_hsa003801.50792387
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.47138167
20Linoleic acid metabolism_Homo sapiens_hsa005911.42307847
21RNA polymerase_Homo sapiens_hsa030201.41159299
22Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.40713638
23Fanconi anemia pathway_Homo sapiens_hsa034601.38053348
24Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.36143424
25Homologous recombination_Homo sapiens_hsa034401.26015295
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.25814794
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25742481
28Taste transduction_Homo sapiens_hsa047421.25728147
29Basal transcription factors_Homo sapiens_hsa030221.24329691
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.24105271
31Pyruvate metabolism_Homo sapiens_hsa006201.20160948
32Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.18711556
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18652366
34Nitrogen metabolism_Homo sapiens_hsa009101.15535780
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.13402139
36RNA degradation_Homo sapiens_hsa030181.13314042
37Morphine addiction_Homo sapiens_hsa050321.13304502
38Sulfur metabolism_Homo sapiens_hsa009201.12626011
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08896185
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.07489024
41Peroxisome_Homo sapiens_hsa041461.05920235
42One carbon pool by folate_Homo sapiens_hsa006701.05007570
43Selenocompound metabolism_Homo sapiens_hsa004501.03342954
44GABAergic synapse_Homo sapiens_hsa047271.03235373
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02899773
46Fatty acid elongation_Homo sapiens_hsa000621.02547583
47Non-homologous end-joining_Homo sapiens_hsa034501.01318532
48Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.99496039
49Insulin secretion_Homo sapiens_hsa049110.97552134
50Fatty acid degradation_Homo sapiens_hsa000710.97488845
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.97137785
52Circadian entrainment_Homo sapiens_hsa047130.95101100
53Olfactory transduction_Homo sapiens_hsa047400.94702594
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.94046233
55Ether lipid metabolism_Homo sapiens_hsa005650.92993944
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.91011953
57Circadian rhythm_Homo sapiens_hsa047100.90083392
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83755425
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.83623156
60Regulation of autophagy_Homo sapiens_hsa041400.80928480
61Retinol metabolism_Homo sapiens_hsa008300.80726563
62Proteasome_Homo sapiens_hsa030500.80454499
63Chemical carcinogenesis_Homo sapiens_hsa052040.80299165
64Caffeine metabolism_Homo sapiens_hsa002320.79544351
65Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.79435396
66Calcium signaling pathway_Homo sapiens_hsa040200.73990392
67Fatty acid metabolism_Homo sapiens_hsa012120.73890537
68Glutamatergic synapse_Homo sapiens_hsa047240.73686730
69Steroid hormone biosynthesis_Homo sapiens_hsa001400.73466118
70Vitamin B6 metabolism_Homo sapiens_hsa007500.73298134
71Ovarian steroidogenesis_Homo sapiens_hsa049130.73091974
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71769809
73Purine metabolism_Homo sapiens_hsa002300.71029106
74Hedgehog signaling pathway_Homo sapiens_hsa043400.67751756
75Mismatch repair_Homo sapiens_hsa034300.67648947
76beta-Alanine metabolism_Homo sapiens_hsa004100.67540490
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.66273306
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.66054773
79RNA transport_Homo sapiens_hsa030130.64959136
80Serotonergic synapse_Homo sapiens_hsa047260.63727119
81Metabolic pathways_Homo sapiens_hsa011000.63718906
82Arginine and proline metabolism_Homo sapiens_hsa003300.60799629
83Steroid biosynthesis_Homo sapiens_hsa001000.58956236
84Sulfur relay system_Homo sapiens_hsa041220.57362826
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56100488
86Nucleotide excision repair_Homo sapiens_hsa034200.55314070
87Oocyte meiosis_Homo sapiens_hsa041140.53900346
88Dopaminergic synapse_Homo sapiens_hsa047280.53647705
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53516386
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.53350939
91Renin secretion_Homo sapiens_hsa049240.48264573
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.47484857
93Cocaine addiction_Homo sapiens_hsa050300.45343457
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.44183697
95TGF-beta signaling pathway_Homo sapiens_hsa043500.43105229
96Ribosome_Homo sapiens_hsa030100.42681274
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.42503219
98ABC transporters_Homo sapiens_hsa020100.42414802
99Pyrimidine metabolism_Homo sapiens_hsa002400.42394917
100cAMP signaling pathway_Homo sapiens_hsa040240.41613417

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