RPS14P4

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
1negative regulation of nitric-oxide synthase activity (GO:0051001)8.75144200
2negative regulation of protein localization to cell surface (GO:2000009)7.32581464
3negative regulation of cardiac muscle tissue growth (GO:0055022)6.81928706
4negative regulation of heart growth (GO:0061117)6.81928706
5regulation of sarcomere organization (GO:0060297)6.49059342
6regulation of skeletal muscle contraction (GO:0014819)6.19207674
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.14656071
8plasma membrane repair (GO:0001778)6.01328465
9negative regulation of cardiac muscle tissue development (GO:0055026)5.90023857
10negative regulation of organelle assembly (GO:1902116)5.66967760
11membrane raft organization (GO:0031579)5.62005502
12negative regulation of potassium ion transmembrane transport (GO:1901380)5.36561435
13negative regulation of muscle hypertrophy (GO:0014741)5.32530251
14ribonucleoprotein complex disassembly (GO:0032988)5.29390317
15positive regulation of respiratory burst (GO:0060267)5.27433414
16negative regulation of monooxygenase activity (GO:0032769)5.25539064
17DNA deamination (GO:0045006)4.65457018
18membrane assembly (GO:0071709)4.50599688
19regulation of cardiac muscle cell differentiation (GO:2000725)4.47027575
20regulation of action potential (GO:0098900)4.32040036
21organelle disassembly (GO:1903008)4.28571478
22lens fiber cell differentiation (GO:0070306)4.27407174
23positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc4.23946159
24regulation of respiratory burst (GO:0060263)4.22175938
25negative regulation of cardiac muscle hypertrophy (GO:0010614)4.03912623
26positive regulation of glomerulus development (GO:0090193)4.00409129
27regulation of glomerulus development (GO:0090192)3.96618649
28response to pheromone (GO:0019236)3.76917602
29regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.73122789
30response to lipoprotein particle (GO:0055094)3.72510130
31somite development (GO:0061053)3.70003476
32striated muscle atrophy (GO:0014891)3.66725445
33establishment of protein localization to mitochondrial membrane (GO:0090151)3.64763001
34regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.62458834
35cellular response to ATP (GO:0071318)3.55558956
36protein heterotetramerization (GO:0051290)3.50618691
37pericardium development (GO:0060039)3.50473481
38regulation of alkaline phosphatase activity (GO:0010692)3.50444525
39positive regulation of cardiac muscle cell differentiation (GO:2000727)3.50171687
40synapsis (GO:0007129)3.49362861
41activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.42807376
42negative regulation of organ growth (GO:0046621)3.39518462
43NADH dehydrogenase complex assembly (GO:0010257)3.39254623
44mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.39254623
45mitochondrial respiratory chain complex I assembly (GO:0032981)3.39254623
46muscle atrophy (GO:0014889)3.33433005
47regulation of membrane repolarization (GO:0060306)3.30402177
48water-soluble vitamin biosynthetic process (GO:0042364)3.17210809
49muscle cell cellular homeostasis (GO:0046716)3.15020097
50UDP-N-acetylglucosamine metabolic process (GO:0006047)3.14644409
51protein K6-linked ubiquitination (GO:0085020)3.14541188
52negative regulation of cell size (GO:0045792)3.09077899
53negative regulation of oxidoreductase activity (GO:0051354)3.08692788
54lateral sprouting from an epithelium (GO:0060601)3.05927545
55RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.05016877
56tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.05016877
57protein complex biogenesis (GO:0070271)3.02988264
58cytoplasmic microtubule organization (GO:0031122)3.02472256
59negative regulation of acute inflammatory response (GO:0002674)3.01581462
60organ formation (GO:0048645)3.00156141
61lymphangiogenesis (GO:0001946)2.98548708
62negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.88947768
63postreplication repair (GO:0006301)2.88771161
64detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.87845423
65muscle cell fate commitment (GO:0042693)2.85182668
66negative regulation of muscle tissue development (GO:1901862)2.84476377
67positive regulation of protein autophosphorylation (GO:0031954)2.84016923
68positive regulation of fatty acid oxidation (GO:0046321)2.83548764
69regulation of cell proliferation involved in kidney development (GO:1901722)2.81347872
70response to gravity (GO:0009629)2.78986218
71negative regulation of striated muscle tissue development (GO:0045843)2.78970752
72positive regulation of myotube differentiation (GO:0010831)2.78816432
73negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.77803397
74regulation of receptor binding (GO:1900120)2.75419275
75negative regulation of muscle organ development (GO:0048635)2.74126468
76regulation of potassium ion transmembrane transporter activity (GO:1901016)2.69423531
77ventricular cardiac muscle cell action potential (GO:0086005)2.69176466
78white fat cell differentiation (GO:0050872)2.67567195
79regulation of p38MAPK cascade (GO:1900744)2.67503078
80thyroid gland development (GO:0030878)2.67187174
81response to interferon-beta (GO:0035456)2.67024589
82positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)2.66338068
83pharyngeal system development (GO:0060037)2.65731955
84endoderm formation (GO:0001706)2.65125750
85intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)2.62672687
86mitochondrial respiratory chain complex assembly (GO:0033108)2.61340670
87membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.60891058
88muscle organ morphogenesis (GO:0048644)2.60093497
89regulation of collateral sprouting (GO:0048670)2.59779202
90positive regulation of microtubule polymerization (GO:0031116)2.59713362
91negative regulation of telomere maintenance (GO:0032205)2.58989104
92response to muscle activity (GO:0014850)2.58056066
93lung morphogenesis (GO:0060425)2.57940613
94positive regulation of extracellular matrix organization (GO:1903055)2.56473091
95chromosome organization involved in meiosis (GO:0070192)2.55637115
96regulation of hippo signaling (GO:0035330)2.54254209
97negative regulation of transcription regulatory region DNA binding (GO:2000678)2.54254038
98regulation of potassium ion transmembrane transport (GO:1901379)2.53480188
99cardiac muscle cell action potential involved in contraction (GO:0086002)2.51460825
100regulation of sequestering of triglyceride (GO:0010889)2.51045662

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human4.41955497
2STAT6_21828071_ChIP-Seq_BEAS2B_Human4.11586506
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.02747726
4ZNF274_21170338_ChIP-Seq_K562_Hela3.81568668
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.22730863
6TRIM28_21343339_ChIP-Seq_HEK293_Human2.98950448
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.58053292
8KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.29900449
9KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.29900449
10KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.29900449
11GABP_17652178_ChIP-ChIP_JURKAT_Human1.93948454
12ER_23166858_ChIP-Seq_MCF-7_Human1.87001755
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.86919325
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.85437571
15SMAD_19615063_ChIP-ChIP_OVARY_Human1.82490884
16FUS_26573619_Chip-Seq_HEK293_Human1.78562046
17EWS_26573619_Chip-Seq_HEK293_Human1.73072968
18GBX2_23144817_ChIP-Seq_PC3_Human1.72115313
19EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.71078844
20NOTCH1_21737748_ChIP-Seq_TLL_Human1.70178336
21IGF1R_20145208_ChIP-Seq_DFB_Human1.67815327
22ZFP57_27257070_Chip-Seq_ESCs_Mouse1.67152878
23P300_19829295_ChIP-Seq_ESCs_Human1.66372103
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.63495286
25NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.61816508
26CJUN_26792858_Chip-Seq_BT549_Human1.59808189
27ELK1_19687146_ChIP-ChIP_HELA_Human1.55687424
28RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.53494199
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.48604911
30HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.46060161
31TDRD3_21172665_ChIP-Seq_MCF-7_Human1.40430043
32MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39965507
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38717214
34POU3F2_20337985_ChIP-ChIP_501MEL_Human1.38414577
35SRF_21415370_ChIP-Seq_HL-1_Mouse1.37867354
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37611936
37EST1_17652178_ChIP-ChIP_JURKAT_Human1.36597373
38TP53_18474530_ChIP-ChIP_U2OS_Human1.36052888
39EP300_21415370_ChIP-Seq_HL-1_Mouse1.35818232
40AUTS2_25519132_ChIP-Seq_293T-REX_Human1.35189500
41KLF5_20875108_ChIP-Seq_MESCs_Mouse1.32650567
42SALL1_21062744_ChIP-ChIP_HESCs_Human1.31375720
43CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30329349
44STAT3_23295773_ChIP-Seq_U87_Human1.30048686
45CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28519723
46SMAD4_21799915_ChIP-Seq_A2780_Human1.28111741
47CDX2_22108803_ChIP-Seq_LS180_Human1.25644124
48SMAD4_21741376_ChIP-Seq_EPCs_Human1.25394661
49NR3C1_21868756_ChIP-Seq_MCF10A_Human1.25348775
50UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24903320
51BCAT_22108803_ChIP-Seq_LS180_Human1.23480860
52NANOG_18555785_Chip-Seq_ESCs_Mouse1.21599135
53ESR1_20079471_ChIP-ChIP_T-47D_Human1.19969099
54E2F1_18555785_Chip-Seq_ESCs_Mouse1.19844686
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19319213
56CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.17809380
57PPAR_26484153_Chip-Seq_NCI-H1993_Human1.16241108
58P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15520433
59P53_22387025_ChIP-Seq_ESCs_Mouse1.15459248
60FOXM1_26456572_ChIP-Seq_MCF-7_Human1.14918025
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14806774
62NFYB_21822215_ChIP-Seq_K562_Human1.14243374
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.13821337
64PHF8_20622853_ChIP-Seq_HELA_Human1.12466410
65TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12366735
66HNFA_21074721_ChIP-Seq_CACO-2_Human1.10680508
67P300_18555785_Chip-Seq_ESCs_Mouse1.10546256
68STAT3_18555785_Chip-Seq_ESCs_Mouse1.09132886
69TCF4_23295773_ChIP-Seq_U87_Human1.08612231
70NFE2_27457419_Chip-Seq_LIVER_Mouse1.06426357
71EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05601765
72CBP_20019798_ChIP-Seq_JUKART_Human1.05546470
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05546470
74CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.05027335
75SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04798795
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04563419
77AR_25329375_ChIP-Seq_VCAP_Human1.04488969
78SOX2_19829295_ChIP-Seq_ESCs_Human1.04111690
79NANOG_19829295_ChIP-Seq_ESCs_Human1.04111690
80FOXA1_25329375_ChIP-Seq_VCAP_Human1.03252834
81FOXA1_27270436_Chip-Seq_PROSTATE_Human1.03252834
82SOX2_18555785_Chip-Seq_ESCs_Mouse1.02937314
83MYC_18940864_ChIP-ChIP_HL60_Human1.02702923
84BRD4_25478319_ChIP-Seq_HGPS_Human1.02214882
85TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.02190653
86SUZ12_27294783_Chip-Seq_NPCs_Mouse1.01973494
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.00679873
88CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99401631
89EGR1_23403033_ChIP-Seq_LIVER_Mouse0.99302067
90TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.99277731
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99020720
92AHR_22903824_ChIP-Seq_MCF-7_Human0.98924437
93OCT4_18555785_Chip-Seq_ESCs_Mouse0.98822368
94ESR1_21235772_ChIP-Seq_MCF-7_Human0.97946158
95TBL1_22424771_ChIP-Seq_293T_Human0.96924959
96SMAD3_21741376_ChIP-Seq_EPCs_Human0.96753741
97ETV1_20927104_ChIP-Seq_GIST48_Human0.96602676
98RNF2_27304074_Chip-Seq_NSC_Mouse0.96250344
99CBX2_27304074_Chip-Seq_ESCs_Mouse0.95537456
100TAL1_26923725_Chip-Seq_HPCs_Mouse0.93963882

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane9.58354610
2MP0003646_muscle_fatigue4.83712244
3MP0002102_abnormal_ear_morphology4.00780806
4MP0002837_dystrophic_cardiac_calcinosis3.93533371
5MP0005670_abnormal_white_adipose3.54991960
6MP0000749_muscle_degeneration2.83188489
7MP0001485_abnormal_pinna_reflex2.64017271
8MP0005646_abnormal_pituitary_gland2.57355418
9MP0009053_abnormal_anal_canal2.41754718
10MP0005360_urolithiasis2.25380340
11MP0002160_abnormal_reproductive_system2.17677413
12MP0000537_abnormal_urethra_morphology2.08062973
13MP0004885_abnormal_endolymph2.04008345
14MP0008872_abnormal_physiological_respon1.79197005
15MP0000049_abnormal_middle_ear1.78182173
16MP0009780_abnormal_chondrocyte_physiolo1.73732659
17MP0000372_irregular_coat_pigmentation1.65938984
18MP0005174_abnormal_tail_pigmentation1.64814212
19MP0004185_abnormal_adipocyte_glucose1.63767775
20MP0000678_abnormal_parathyroid_gland1.60716749
21MP0000015_abnormal_ear_pigmentation1.54440493
22MP0003195_calcinosis1.53692052
23MP0008775_abnormal_heart_ventricle1.50350010
24MP0002282_abnormal_trachea_morphology1.50006987
25MP0003724_increased_susceptibility_to1.48539399
26MP0004142_abnormal_muscle_tone1.47031158
27MP0003136_yellow_coat_color1.47017321
28MP0004145_abnormal_muscle_electrophysio1.42006053
29MP0006292_abnormal_olfactory_placode1.40953008
30MP0005084_abnormal_gallbladder_morpholo1.31044483
31MP0001661_extended_life_span1.29378410
32MP0002876_abnormal_thyroid_physiology1.27061410
33MP0002234_abnormal_pharynx_morphology1.26285036
34MP0005389_reproductive_system_phenotype1.25221023
35MP0001853_heart_inflammation1.23956008
36MP0003938_abnormal_ear_development1.23389809
37MP0000467_abnormal_esophagus_morphology1.23114929
38MP0002163_abnormal_gland_morphology1.21688544
39MP0003937_abnormal_limbs/digits/tail_de1.13437234
40MP0001756_abnormal_urination1.12233933
41MP0008789_abnormal_olfactory_epithelium1.12116452
42MP0003786_premature_aging1.11882457
43MP0002638_abnormal_pupillary_reflex1.11511134
44MP0009250_abnormal_appendicular_skeleto1.11118529
45MP0004084_abnormal_cardiac_muscle1.07833306
46MP0009765_abnormal_xenobiotic_induced1.06451217
47MP0003252_abnormal_bile_duct1.04651558
48MP0000751_myopathy1.01761673
49MP0002249_abnormal_larynx_morphology0.95331249
50MP0008875_abnormal_xenobiotic_pharmacok0.92096646
51MP0002095_abnormal_skin_pigmentation0.92077488
52MP0003119_abnormal_digestive_system0.91908534
53MP0001764_abnormal_homeostasis0.90577943
54MP0005367_renal/urinary_system_phenotyp0.90128150
55MP0000516_abnormal_urinary_system0.90128150
56MP0003693_abnormal_embryo_hatching0.89688141
57MP0004130_abnormal_muscle_cell0.88273289
58MP0004272_abnormal_basement_membrane0.88169326
59MP0005023_abnormal_wound_healing0.85955273
60MP0002928_abnormal_bile_duct0.85388741
61MP0008995_early_reproductive_senescence0.84214658
62MP0003828_pulmonary_edema0.81665997
63MP0002108_abnormal_muscle_morphology0.80494567
64MP0005408_hypopigmentation0.79171554
65MP0008058_abnormal_DNA_repair0.78126171
66MP0003283_abnormal_digestive_organ0.77014631
67MP0005410_abnormal_fertilization0.76640255
68MP0010368_abnormal_lymphatic_system0.76209534
69MP0005620_abnormal_muscle_contractility0.75302891
70MP0000013_abnormal_adipose_tissue0.74160897
71MP0003045_fibrosis0.73329565
72MP0008877_abnormal_DNA_methylation0.71890627
73MP0002277_abnormal_respiratory_mucosa0.71473861
74MP0003936_abnormal_reproductive_system0.70772392
75MP0002135_abnormal_kidney_morphology0.67669420
76MP0002972_abnormal_cardiac_muscle0.67271909
77MP0002106_abnormal_muscle_physiology0.66991673
78MP0004134_abnormal_chest_morphology0.66926292
79MP0009785_altered_susceptibility_to0.66880693
80MP0003942_abnormal_urinary_system0.65208899
81MP0001542_abnormal_bone_strength0.64725372
82MP0000631_abnormal_neuroendocrine_gland0.63394772
83MP0000759_abnormal_skeletal_muscle0.61982822
84MP0002932_abnormal_joint_morphology0.61408646
85MP0005369_muscle_phenotype0.60953494
86MP0003806_abnormal_nucleotide_metabolis0.60760054
87MP0000470_abnormal_stomach_morphology0.60477342
88MP0005195_abnormal_posterior_eye0.60124887
89MP0005551_abnormal_eye_electrophysiolog0.59775535
90MP0003315_abnormal_perineum_morphology0.59169048
91MP0002938_white_spotting0.58755854
92MP0002089_abnormal_postnatal_growth/wei0.57155112
93MP0000681_abnormal_thyroid_gland0.56936155
94MP0001486_abnormal_startle_reflex0.56924081
95MP0006054_spinal_hemorrhage0.55927257
96MP0005379_endocrine/exocrine_gland_phen0.55809451
97MP0005330_cardiomyopathy0.53506050
98MP0000230_abnormal_systemic_arterial0.53468465
99MP0000750_abnormal_muscle_regeneration0.53216583
100MP0004381_abnormal_hair_follicle0.53044116

Predicted human phenotypes

RankGene SetZ-score
1Calf muscle hypertrophy (HP:0008981)5.64157772
2Muscle hypertrophy of the lower extremities (HP:0008968)4.88113512
3Short 1st metacarpal (HP:0010034)4.33747021
4Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)4.33747021
5Exercise-induced muscle cramps (HP:0003710)4.00958961
6Exercise-induced myalgia (HP:0003738)3.98470655
7Abnormality of DNA repair (HP:0003254)3.96460295
8Abnormality of the 1st metacarpal (HP:0010009)3.77885987
9Reduced subcutaneous adipose tissue (HP:0003758)3.52793852
10Renal cortical cysts (HP:0000803)3.49430239
11Abnormality of the proximal phalanges of the hand (HP:0009834)3.46077656
12Acute necrotizing encephalopathy (HP:0006965)3.43214826
13Increased corneal curvature (HP:0100692)3.42301402
14Keratoconus (HP:0000563)3.42301402
15Popliteal pterygium (HP:0009756)3.38783712
16Fused cervical vertebrae (HP:0002949)3.29985801
17Abnormality of the nasal septum (HP:0000419)3.28121630
18Progressive macrocephaly (HP:0004481)3.13950360
19Abnormality of the middle phalanx of the 5th finger (HP:0004219)3.11000376
20Abnormality of the renal cortex (HP:0011035)3.00435179
21Acute encephalopathy (HP:0006846)2.99409907
22Absent thumb (HP:0009777)2.96130178
23Abnormal mitochondria in muscle tissue (HP:0008316)2.88990383
24Abnormality of the left ventricular outflow tract (HP:0011103)2.88292924
25Subaortic stenosis (HP:0001682)2.88292924
26Abnormality of the phalanges of the 5th finger (HP:0004213)2.86111420
27Myotonia (HP:0002486)2.85765477
28Abnormality of the renal collecting system (HP:0004742)2.84539664
29Stenosis of the external auditory canal (HP:0000402)2.84516330
30Absent phalangeal crease (HP:0006109)2.80285447
31Abnormality of placental membranes (HP:0011409)2.78157873
32Amniotic constriction ring (HP:0009775)2.78157873
33Aplasia/Hypoplasia involving the musculature (HP:0001460)2.76510438
34Asymmetric septal hypertrophy (HP:0001670)2.74950868
35Ectopic kidney (HP:0000086)2.73221693
36Short hallux (HP:0010109)2.71413902
37Type 2 muscle fiber atrophy (HP:0003554)2.66406616
38Fatigable weakness (HP:0003473)2.66328496
39Abnormality of the neuromuscular junction (HP:0003398)2.66328496
40Abnormal rod and cone electroretinograms (HP:0008323)2.63644048
41Prolonged QT interval (HP:0001657)2.61987056
42Decreased subcutaneous fat (HP:0001002)2.60822021
43Gowers sign (HP:0003391)2.56565740
44Pancreatic cysts (HP:0001737)2.54146440
45Absent rod-and cone-mediated responses on ERG (HP:0007688)2.53568424
46Short phalanx of the thumb (HP:0009660)2.46958976
47Chromosomal breakage induced by crosslinking agents (HP:0003221)2.44851049
48Severe visual impairment (HP:0001141)2.44256311
49Aplasia/Hypoplasia of the hallux (HP:0008362)2.42454440
50Poor suck (HP:0002033)2.41840508
51Hypoplasia of the thymus (HP:0000778)2.37974689
52Abnormality of the middle phalanges of the toes (HP:0010183)2.37925754
53Clubbing of toes (HP:0100760)2.34387283
54Abnormality of subcutaneous fat tissue (HP:0001001)2.34385997
55Morphological abnormality of the middle ear (HP:0008609)2.34001307
56Mitochondrial inheritance (HP:0001427)2.31556517
57Symphalangism affecting the phalanges of the hand (HP:0009773)2.29628617
58Abnormal finger flexion creases (HP:0006143)2.29605968
59Aplasia of the musculature (HP:0100854)2.28674678
60Chromsome breakage (HP:0040012)2.26550535
61Duplicated collecting system (HP:0000081)2.25764899
62Aplasia/Hypoplasia of the uvula (HP:0010293)2.25574530
63Posterior subcapsular cataract (HP:0007787)2.22515942
64Tubular atrophy (HP:0000092)2.17812502
65Adrenal hypoplasia (HP:0000835)2.15453940
66Muscle stiffness (HP:0003552)2.15267607
67Oligomenorrhea (HP:0000876)2.14979377
68Abnormality of the ileum (HP:0001549)2.12025243
69Abnormality of the calf musculature (HP:0001430)2.11315303
70Muscle fiber atrophy (HP:0100295)2.10876940
71Sudden death (HP:0001699)2.10741939
72Irregular vertebral endplates (HP:0003301)2.09163262
73Congenital sensorineural hearing impairment (HP:0008527)2.07113548
74Neck muscle weakness (HP:0000467)2.05899236
75Meckel diverticulum (HP:0002245)2.05305378
76Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.03835089
77Hamartoma of the eye (HP:0010568)2.00590990
78Synostosis of carpal bones (HP:0005048)2.00071239
79Abnormality of midbrain morphology (HP:0002418)1.99393580
80Molar tooth sign on MRI (HP:0002419)1.99393580
81Bony spicule pigmentary retinopathy (HP:0007737)1.98419947
82Insulin-resistant diabetes mellitus (HP:0000831)1.96031659
83Chorioretinal atrophy (HP:0000533)1.95576909
84Congenital, generalized hypertrichosis (HP:0004540)1.95282711
85Nephronophthisis (HP:0000090)1.94468097
86Pendular nystagmus (HP:0012043)1.93163803
87Attenuation of retinal blood vessels (HP:0007843)1.92373306
88Pancreatic fibrosis (HP:0100732)1.90725010
89Cubitus valgus (HP:0002967)1.90359393
90True hermaphroditism (HP:0010459)1.88036895
91Abnormality of the costochondral junction (HP:0000919)1.87268773
92Brushfield spots (HP:0001088)1.86959542
93Abnormality of the renal medulla (HP:0100957)1.85539632
94Optic disc pallor (HP:0000543)1.82892380
95Abnormality of chromosome stability (HP:0003220)1.81656109
96Humeroradial synostosis (HP:0003041)1.80727388
97Synostosis involving the elbow (HP:0003938)1.80727388
98Increased CSF lactate (HP:0002490)1.80286395
99Abnormality of the carotid arteries (HP:0005344)1.80179931
100Thick nail (HP:0001805)1.79151608

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR6.21601038
2FRK3.99628341
3MAPKAPK53.83412238
4MUSK3.43696582
5TRIM282.77596857
6CDK82.69973080
7EIF2AK32.30296917
8GRK12.12624974
9CDK91.99676900
10EIF2AK11.96453006
11NUAK11.93770780
12TAOK31.93262019
13PINK11.92668554
14ADRBK21.86874518
15SIK31.82876273
16CCNB11.67267782
17VRK21.66909252
18PLK21.63213485
19NME11.63018046
20MAP3K121.58411923
21MELK1.49178061
22PIK3CG1.42620610
23DAPK11.28261346
24BMPR1B1.27333670
25PIK3CA1.18918728
26MAP4K21.15201248
27MAP3K71.10089785
28DMPK1.07477386
29ERBB31.06409709
30PAK61.05989967
31CDC71.02422983
32MYLK1.01676492
33MAP2K10.99364711
34FER0.98693787
35PAK30.98063927
36TAF10.95667517
37STK160.94402436
38GRK50.93498944
39LMTK20.90944775
40BCR0.90813978
41STK390.89746508
42TNIK0.89544597
43TEC0.81637905
44BRSK20.80674065
45WEE10.79713586
46PRKCE0.75921195
47FLT30.72962068
48STK38L0.72442468
49MAP3K90.70272052
50VRK10.67274283
51MST1R0.66373705
52PLK30.65676106
53MST40.64575724
54WNK30.63700549
55PRKCI0.57265520
56MKNK20.56699665
57ACVR1B0.56049189
58OXSR10.54652406
59PLK40.53895497
60MAPKAPK30.52538551
61CSNK1A10.51891293
62EIF2AK20.51821111
63IKBKB0.51787529
64BCKDK0.51695912
65DAPK30.51350353
66MINK10.50395206
67MAP3K30.50377031
68PRKAA10.49843311
69AURKA0.49254691
70IGF1R0.49149078
71ABL10.49113468
72ADRBK10.48162522
73CSNK1D0.45500041
74ERBB40.44725279
75CLK10.43077927
76DAPK20.42804362
77PRKCG0.42452563
78PRKCQ0.42343390
79ABL20.42108344
80CHEK20.41458826
81CSNK1G20.40208392
82DDR20.39910061
83STK100.39065330
84AKT30.37453159
85EPHB20.37427772
86CAMK2A0.37076304
87PRKD20.35601821
88RIPK40.35550126
89MOS0.35500528
90CAMK2D0.35380065
91CSNK1G10.34573469
92CSNK2A10.34555395
93PRKCA0.33067302
94ROCK10.31430580
95NTRK30.30606758
96ATR0.30325833
97EGFR0.28945096
98TNK20.28918738
99LIMK10.28815112
100PLK10.27377180

Predicted pathways (KEGG)

RankGene SetZ-score
1Homologous recombination_Homo sapiens_hsa034403.09531460
2Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.83619996
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.79265227
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.75917738
5Butanoate metabolism_Homo sapiens_hsa006502.57754247
6Selenocompound metabolism_Homo sapiens_hsa004502.57286023
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.39717097
8Olfactory transduction_Homo sapiens_hsa047402.31692162
9Proteasome_Homo sapiens_hsa030502.26512627
10Fanconi anemia pathway_Homo sapiens_hsa034602.20953666
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.17303084
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10481771
13Oxidative phosphorylation_Homo sapiens_hsa001902.01956711
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.93383313
15RNA polymerase_Homo sapiens_hsa030201.92506153
16Pentose and glucuronate interconversions_Homo sapiens_hsa000401.85018685
17Histidine metabolism_Homo sapiens_hsa003401.84251475
18Glycerolipid metabolism_Homo sapiens_hsa005611.72100919
19Basal transcription factors_Homo sapiens_hsa030221.69991206
20Nitrogen metabolism_Homo sapiens_hsa009101.67452881
21Parkinsons disease_Homo sapiens_hsa050121.58660841
22Tryptophan metabolism_Homo sapiens_hsa003801.57516035
23Cardiac muscle contraction_Homo sapiens_hsa042601.47625423
24Alzheimers disease_Homo sapiens_hsa050101.44351396
25Phototransduction_Homo sapiens_hsa047441.40246559
26One carbon pool by folate_Homo sapiens_hsa006701.39289107
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37276704
28Steroid biosynthesis_Homo sapiens_hsa001001.34635188
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.33120091
30Protein export_Homo sapiens_hsa030601.32916198
31Nucleotide excision repair_Homo sapiens_hsa034201.27593232
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.27287904
33Retinol metabolism_Homo sapiens_hsa008301.27015922
34Chemical carcinogenesis_Homo sapiens_hsa052041.23220398
35Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.20517035
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.19976745
37Sulfur metabolism_Homo sapiens_hsa009201.18781674
38Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.18725033
39RNA degradation_Homo sapiens_hsa030181.16726180
40Pyruvate metabolism_Homo sapiens_hsa006201.16024958
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.11354474
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.05994073
43Linoleic acid metabolism_Homo sapiens_hsa005911.04107265
44Caffeine metabolism_Homo sapiens_hsa002321.03342102
45beta-Alanine metabolism_Homo sapiens_hsa004101.03147575
46Huntingtons disease_Homo sapiens_hsa050160.93363874
47ABC transporters_Homo sapiens_hsa020100.92442508
48Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.87519079
49Pancreatic secretion_Homo sapiens_hsa049720.87494256
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.85565981
51Ether lipid metabolism_Homo sapiens_hsa005650.85208126
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.84520539
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81741945
54Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.81130454
55Regulation of autophagy_Homo sapiens_hsa041400.81129654
56Pyrimidine metabolism_Homo sapiens_hsa002400.80363564
57Type II diabetes mellitus_Homo sapiens_hsa049300.80305960
58Drug metabolism - other enzymes_Homo sapiens_hsa009830.77936186
59Lysine degradation_Homo sapiens_hsa003100.77916579
60Propanoate metabolism_Homo sapiens_hsa006400.76866613
61Taste transduction_Homo sapiens_hsa047420.75313468
62Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75000713
63p53 signaling pathway_Homo sapiens_hsa041150.73052827
64Mismatch repair_Homo sapiens_hsa034300.70742179
65N-Glycan biosynthesis_Homo sapiens_hsa005100.65488499
66Peroxisome_Homo sapiens_hsa041460.64104861
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62280206
68TGF-beta signaling pathway_Homo sapiens_hsa043500.58432812
69Wnt signaling pathway_Homo sapiens_hsa043100.56701114
70Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.56366384
71Metabolic pathways_Homo sapiens_hsa011000.55877829
72Starch and sucrose metabolism_Homo sapiens_hsa005000.55639873
73Basal cell carcinoma_Homo sapiens_hsa052170.55166305
74Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.54908010
75DNA replication_Homo sapiens_hsa030300.52895158
76Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.52492403
77Fat digestion and absorption_Homo sapiens_hsa049750.52474143
78Melanoma_Homo sapiens_hsa052180.45973562
79Folate biosynthesis_Homo sapiens_hsa007900.44350163
80Dorso-ventral axis formation_Homo sapiens_hsa043200.44115612
81Hedgehog signaling pathway_Homo sapiens_hsa043400.42227597
82Arginine and proline metabolism_Homo sapiens_hsa003300.41765100
83Primary bile acid biosynthesis_Homo sapiens_hsa001200.40878422
84RNA transport_Homo sapiens_hsa030130.39865459
85Purine metabolism_Homo sapiens_hsa002300.39043438
86Glutathione metabolism_Homo sapiens_hsa004800.39003793
87Ovarian steroidogenesis_Homo sapiens_hsa049130.38713872
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38473776
89Collecting duct acid secretion_Homo sapiens_hsa049660.37460839
90Cyanoamino acid metabolism_Homo sapiens_hsa004600.36544347
91Insulin secretion_Homo sapiens_hsa049110.35922739
92Base excision repair_Homo sapiens_hsa034100.34028384
93Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.33756013
94Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33326187
95Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.30545714
96Dilated cardiomyopathy_Homo sapiens_hsa054140.30523532
97Renin-angiotensin system_Homo sapiens_hsa046140.30226230
98Morphine addiction_Homo sapiens_hsa050320.30123900
99Hippo signaling pathway_Homo sapiens_hsa043900.29375783
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27360927

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