EGLN3P1

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 Golgi to plasma membrane protein transport (GO:0042996)5.23737711
2regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.09906215
3branching involved in labyrinthine layer morphogenesis (GO:0060670)4.84462890
4anterior/posterior axis specification, embryo (GO:0008595)4.82632721
5nodal signaling pathway (GO:0038092)4.74608765
6L-ascorbic acid metabolic process (GO:0019852)4.69567093
7regulation of cytokine secretion involved in immune response (GO:0002739)4.65903890
8regulation of acyl-CoA biosynthetic process (GO:0050812)4.60242291
9regulation of sulfur metabolic process (GO:0042762)4.45487479
10regulation of coenzyme metabolic process (GO:0051196)4.22824991
11regulation of cofactor metabolic process (GO:0051193)4.22824991
12regulation of cholesterol esterification (GO:0010872)4.21802954
13negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)4.18336343
14female gonad development (GO:0008585)4.08143406
15positive regulation of cardiac muscle cell proliferation (GO:0060045)4.07474620
16embryonic foregut morphogenesis (GO:0048617)4.07246989
17phospholipid efflux (GO:0033700)3.98103020
18regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.88992538
19regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.80779280
20otic vesicle formation (GO:0030916)3.74614741
21cardiac right ventricle morphogenesis (GO:0003215)3.72606250
22cullin deneddylation (GO:0010388)3.67309413
23regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)3.67246323
24positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)3.67246323
25mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.65611262
26positive regulation of cardiac muscle tissue growth (GO:0055023)3.65257455
27endoderm formation (GO:0001706)3.64277320
28positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.63132966
29response to pheromone (GO:0019236)3.59905002
30somite rostral/caudal axis specification (GO:0032525)3.59516282
31kidney morphogenesis (GO:0060993)3.58278997
32negative regulation of activin receptor signaling pathway (GO:0032926)3.57870448
33negative regulation of translation, ncRNA-mediated (GO:0040033)3.56530460
34regulation of translation, ncRNA-mediated (GO:0045974)3.56530460
35negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.56530460
36negative regulation of lipase activity (GO:0060192)3.48353784
37positive regulation of glycoprotein biosynthetic process (GO:0010560)3.39995756
38detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.38439570
39regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.37810310
40positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.37810310
41positive regulation of glycoprotein metabolic process (GO:1903020)3.37252538
42regulation of mRNA 3-end processing (GO:0031440)3.36747966
43high-density lipoprotein particle remodeling (GO:0034375)3.36031717
44embryonic camera-type eye development (GO:0031076)3.34397209
45negative regulation of keratinocyte proliferation (GO:0010839)3.30223001
46protein deneddylation (GO:0000338)3.29136938
47regulation of glucokinase activity (GO:0033131)3.28946029
48regulation of hexokinase activity (GO:1903299)3.28946029
49somatic diversification of immune receptors via somatic mutation (GO:0002566)3.27161025
50somatic hypermutation of immunoglobulin genes (GO:0016446)3.27161025
51triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.26529066
52reverse cholesterol transport (GO:0043691)3.26180324
53positive regulation of heart growth (GO:0060421)3.25556461
54pericardium development (GO:0060039)3.25328619
55plasma lipoprotein particle assembly (GO:0034377)3.22743441
56positive regulation of mRNA catabolic process (GO:0061014)3.21497374
57response to gravity (GO:0009629)3.21482293
58signal transduction involved in regulation of gene expression (GO:0023019)3.19899961
59embryonic axis specification (GO:0000578)3.17075503
60protein autoprocessing (GO:0016540)3.16298246
61embryonic pattern specification (GO:0009880)3.16116231
62peptidyl-cysteine modification (GO:0018198)3.15923009
63regulation of non-canonical Wnt signaling pathway (GO:2000050)3.14456527
64regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.12160694
65lactate metabolic process (GO:0006089)3.09067067
66embryonic cranial skeleton morphogenesis (GO:0048701)3.08433595
67positive regulation of mRNA 3-end processing (GO:0031442)3.06559378
68positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.06475307
69regulation of activin receptor signaling pathway (GO:0032925)3.06332418
70negative regulation of execution phase of apoptosis (GO:1900118)3.05773900
71primitive streak formation (GO:0090009)3.05447230
72regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.04697749
73branched-chain amino acid catabolic process (GO:0009083)3.01199807
74SMAD protein signal transduction (GO:0060395)3.00719074
75photoreceptor cell maintenance (GO:0045494)2.95181274
76embryonic digestive tract morphogenesis (GO:0048557)2.93910707
77protein-lipid complex assembly (GO:0065005)2.90782496
78regulation of cardiac muscle cell proliferation (GO:0060043)2.88113753
79sensory perception of smell (GO:0007608)2.83850086
80dopamine transport (GO:0015872)2.83509778
81regulation of cardioblast differentiation (GO:0051890)2.83506365
82DNA double-strand break processing (GO:0000729)2.81829875
83regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.80371403
84negative regulation of cholesterol transport (GO:0032375)2.74757997
85negative regulation of sterol transport (GO:0032372)2.74757997
86positive regulation of cardiac muscle tissue development (GO:0055025)2.74437389
87regulation of mRNA catabolic process (GO:0061013)2.70557409
88mRNA cleavage (GO:0006379)2.68177071
89cellular ketone body metabolic process (GO:0046950)2.66009735
90anterior/posterior axis specification (GO:0009948)2.64500239
91tricarboxylic acid cycle (GO:0006099)2.64047941
92regulation of mesoderm development (GO:2000380)2.63504810
93ventricular cardiac muscle cell development (GO:0055015)2.63342995
94regulation of tight junction assembly (GO:2000810)2.61411194
95positive regulation of gastrulation (GO:2000543)2.61004561
96GPI anchor metabolic process (GO:0006505)2.56303387
97peptidyl-histidine modification (GO:0018202)2.55430985
98regulation of acrosome reaction (GO:0060046)2.55262639
99RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.53194338
100proteasome assembly (GO:0043248)2.53122733

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.43038277
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.74351391
3CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.55896019
4SALL1_21062744_ChIP-ChIP_HESCs_Human2.52181761
5FLI1_27457419_Chip-Seq_LIVER_Mouse2.46774268
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40254887
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.31379055
8GABP_17652178_ChIP-ChIP_JURKAT_Human2.22951244
9P300_19829295_ChIP-Seq_ESCs_Human2.13509472
10AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.04435048
11PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01390530
12FUS_26573619_Chip-Seq_HEK293_Human1.99646648
13BCAT_22108803_ChIP-Seq_LS180_Human1.95992364
14CDX2_19796622_ChIP-Seq_MESCs_Mouse1.95696846
15ZNF274_21170338_ChIP-Seq_K562_Hela1.94504735
16ELK1_19687146_ChIP-ChIP_HELA_Human1.92623119
17VDR_22108803_ChIP-Seq_LS180_Human1.88670109
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.82829182
19PIAS1_25552417_ChIP-Seq_VCAP_Human1.80240107
20PCGF2_27294783_Chip-Seq_NPCs_Mouse1.79920051
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76187904
22EGR1_23403033_ChIP-Seq_LIVER_Mouse1.66283552
23EZH2_27294783_Chip-Seq_NPCs_Mouse1.63362805
24SUZ12_27294783_Chip-Seq_NPCs_Mouse1.60399231
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.60280121
26NFE2_27457419_Chip-Seq_LIVER_Mouse1.59500862
27CBP_20019798_ChIP-Seq_JUKART_Human1.56831172
28IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.56831172
29EWS_26573619_Chip-Seq_HEK293_Human1.55624615
30EST1_17652178_ChIP-ChIP_JURKAT_Human1.55429461
31GBX2_23144817_ChIP-Seq_PC3_Human1.54355568
32SMAD3_21741376_ChIP-Seq_HESCs_Human1.53381115
33ER_23166858_ChIP-Seq_MCF-7_Human1.49273020
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.45563565
35SOX2_19829295_ChIP-Seq_ESCs_Human1.45252474
36NANOG_19829295_ChIP-Seq_ESCs_Human1.45252474
37NR3C1_21868756_ChIP-Seq_MCF10A_Human1.44261139
38MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44182879
39SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43929313
40FOXM1_26456572_ChIP-Seq_MCF-7_Human1.43718720
41STAT3_23295773_ChIP-Seq_U87_Human1.42832623
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.42772155
43UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.41800302
44ESR1_20079471_ChIP-ChIP_T-47D_Human1.38646315
45SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.36868474
46FOXA1_21572438_ChIP-Seq_LNCaP_Human1.35718794
47TCF4_22108803_ChIP-Seq_LS180_Human1.35407137
48CRX_20693478_ChIP-Seq_RETINA_Mouse1.34401198
49CDX2_22108803_ChIP-Seq_LS180_Human1.34385848
50KLF5_20875108_ChIP-Seq_MESCs_Mouse1.33098214
51SMAD4_21799915_ChIP-Seq_A2780_Human1.32640186
52CTBP2_25329375_ChIP-Seq_LNCAP_Human1.31524374
53ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30185426
54PADI4_21655091_ChIP-ChIP_MCF-7_Human1.30050245
55TP53_16413492_ChIP-PET_HCT116_Human1.29788338
56VDR_23849224_ChIP-Seq_CD4+_Human1.29631656
57CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.29502578
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.26635464
59IRF1_19129219_ChIP-ChIP_H3396_Human1.25757872
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.25317630
61EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.24646701
62SMAD4_21741376_ChIP-Seq_HESCs_Human1.24325550
63TCF4_23295773_ChIP-Seq_U87_Human1.22454304
64E2F1_18555785_Chip-Seq_ESCs_Mouse1.22236787
65MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.21516751
66CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.21466888
67E2F4_17652178_ChIP-ChIP_JURKAT_Human1.20492965
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.19902912
69TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19062237
70EOMES_21245162_ChIP-Seq_HESCs_Human1.18146457
71KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.17887795
72KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.17887795
73KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.17887795
74STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17697206
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16195476
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.16000941
77AR_25329375_ChIP-Seq_VCAP_Human1.14957571
78TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.13935910
79PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13428244
80CMYC_18555785_Chip-Seq_ESCs_Mouse1.13006259
81PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12637150
82STAT3_18555785_Chip-Seq_ESCs_Mouse1.12597962
83IGF1R_20145208_ChIP-Seq_DFB_Human1.12346165
84SMAD4_21741376_ChIP-Seq_EPCs_Human1.11645159
85CDX2_20551321_ChIP-Seq_CACO-2_Human1.10121329
86HOXB7_26014856_ChIP-Seq_BT474_Human1.09271439
87AHR_22903824_ChIP-Seq_MCF-7_Human1.08027461
88CJUN_26792858_Chip-Seq_BT549_Human1.07952952
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07798712
90P300_18555785_Chip-Seq_ESCs_Mouse1.07377748
91OCT4_18555785_Chip-Seq_ESCs_Mouse1.07375756
92SUZ12_18555785_Chip-Seq_ESCs_Mouse1.07315199
93OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07006425
94NMYC_18555785_Chip-Seq_ESCs_Mouse1.06630963
95SMAD_19615063_ChIP-ChIP_OVARY_Human1.06497710
96P53_22387025_ChIP-Seq_ESCs_Mouse1.04284557
97TP63_19390658_ChIP-ChIP_HaCaT_Human1.03742723
98BRD4_25478319_ChIP-Seq_HGPS_Human1.03036208
99TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02486390
100ZFX_18555785_Chip-Seq_ESCs_Mouse1.02040934

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation5.29038310
2MP0004264_abnormal_extraembryonic_tissu4.30381684
3MP0010030_abnormal_orbit_morphology3.91312481
4MP0003890_abnormal_embryonic-extraembry3.66620603
5MP0002938_white_spotting3.51579365
6MP0003136_yellow_coat_color3.00600148
7MP0008004_abnormal_stomach_pH2.90621977
8MP0004145_abnormal_muscle_electrophysio2.73281635
9MP0008877_abnormal_DNA_methylation2.38736240
10MP0006292_abnormal_olfactory_placode2.38447264
11MP0000516_abnormal_urinary_system2.17930200
12MP0005367_renal/urinary_system_phenotyp2.17930200
13MP0003191_abnormal_cellular_cholesterol2.09731628
14MP0004270_analgesia2.02037578
15MP0001299_abnormal_eye_distance/1.91586312
16MP0000569_abnormal_digit_pigmentation1.88949789
17MP0005551_abnormal_eye_electrophysiolog1.84744979
18MP0003119_abnormal_digestive_system1.84587388
19MP0003950_abnormal_plasma_membrane1.81824429
20MP0009697_abnormal_copulation1.76924665
21MP0004133_heterotaxia1.75138530
22MP0002876_abnormal_thyroid_physiology1.74151162
23MP0005171_absent_coat_pigmentation1.68173890
24MP0000427_abnormal_hair_cycle1.67553024
25MP0008058_abnormal_DNA_repair1.66946703
26MP0002277_abnormal_respiratory_mucosa1.66711149
27MP0008057_abnormal_DNA_replication1.58912390
28MP0000749_muscle_degeneration1.56840329
29MP0003137_abnormal_impulse_conducting1.54251970
30MP0003195_calcinosis1.52844874
31MP0002234_abnormal_pharynx_morphology1.50151258
32MP0003943_abnormal_hepatobiliary_system1.47547188
33MP0005408_hypopigmentation1.43217879
34MP0010094_abnormal_chromosome_stability1.35348559
35MP0008260_abnormal_autophagy1.32618641
36MP0004215_abnormal_myocardial_fiber1.27615515
37MP0000015_abnormal_ear_pigmentation1.25540555
38MP0001986_abnormal_taste_sensitivity1.25408815
39MP0008872_abnormal_physiological_respon1.23268012
40MP0005174_abnormal_tail_pigmentation1.19153625
41MP0004381_abnormal_hair_follicle1.14855620
42MP0008789_abnormal_olfactory_epithelium1.12856494
43MP0009780_abnormal_chondrocyte_physiolo1.12331247
44MP0000647_abnormal_sebaceous_gland1.11048441
45MP0005075_abnormal_melanosome_morpholog1.08195096
46MP0003121_genomic_imprinting1.07447629
47MP0001764_abnormal_homeostasis1.07433876
48MP0004147_increased_porphyrin_level1.06682132
49MP0004142_abnormal_muscle_tone1.06420465
50MP0010329_abnormal_lipoprotein_level1.04362007
51MP0002254_reproductive_system_inflammat1.04353792
52MP0003567_abnormal_fetal_cardiomyocyte1.01203942
53MP0003122_maternal_imprinting1.00424122
54MP0002233_abnormal_nose_morphology0.98598783
55MP0001486_abnormal_startle_reflex0.98301209
56MP0002168_other_aberrant_phenotype0.95021342
57MP0005248_abnormal_Harderian_gland0.93508356
58MP0006035_abnormal_mitochondrial_morpho0.91520048
59MP0005253_abnormal_eye_physiology0.88962538
60MP0002933_joint_inflammation0.86420319
61MP0006036_abnormal_mitochondrial_physio0.86344210
62MP0005499_abnormal_olfactory_system0.84858317
63MP0005394_taste/olfaction_phenotype0.84858317
64MP0008995_early_reproductive_senescence0.84646048
65MP0005332_abnormal_amino_acid0.83636326
66MP0002837_dystrophic_cardiac_calcinosis0.82995189
67MP0001485_abnormal_pinna_reflex0.82246216
68MP0003880_abnormal_central_pattern0.81668291
69MP0001324_abnormal_eye_pigmentation0.81108702
70MP0002139_abnormal_hepatobiliary_system0.80902779
71MP0001881_abnormal_mammary_gland0.80224739
72MP0006072_abnormal_retinal_apoptosis0.79383772
73MP0005330_cardiomyopathy0.79145804
74MP0000639_abnormal_adrenal_gland0.78713441
75MP0003186_abnormal_redox_activity0.78582435
76MP0000428_abnormal_craniofacial_morphol0.77988570
77MP0003828_pulmonary_edema0.77838924
78MP0000538_abnormal_urinary_bladder0.75928961
79MP0002736_abnormal_nociception_after0.74878198
80MP0006276_abnormal_autonomic_nervous0.74771819
81MP0009250_abnormal_appendicular_skeleto0.74185962
82MP0000383_abnormal_hair_follicle0.73677167
83MP0002160_abnormal_reproductive_system0.73095190
84MP0002734_abnormal_mechanical_nocicepti0.72937615
85MP0005084_abnormal_gallbladder_morpholo0.71885200
86MP0001929_abnormal_gametogenesis0.71843648
87MP0003786_premature_aging0.71541621
88MP0009703_decreased_birth_body0.71261947
89MP0008875_abnormal_xenobiotic_pharmacok0.69879328
90MP0002638_abnormal_pupillary_reflex0.69836295
91MP0002972_abnormal_cardiac_muscle0.68689188
92MP0005395_other_phenotype0.67641570
93MP0001286_abnormal_eye_development0.66943412
94MP0002282_abnormal_trachea_morphology0.64823805
95MP0004272_abnormal_basement_membrane0.64814064
96MP0009672_abnormal_birth_weight0.64493143
97MP0003936_abnormal_reproductive_system0.63779915
98MP0005023_abnormal_wound_healing0.63607385
99MP0009384_cardiac_valve_regurgitation0.62880879
100MP0003077_abnormal_cell_cycle0.62427708

Predicted human phenotypes

RankGene SetZ-score
1Type 2 muscle fiber atrophy (HP:0003554)5.37941319
2Progressive inability to walk (HP:0002505)4.69096877
3Muscle fiber atrophy (HP:0100295)4.29333140
4Abnormality of the ischium (HP:0003174)3.99164293
5Congenital malformation of the right heart (HP:0011723)3.61143036
6Double outlet right ventricle (HP:0001719)3.61143036
7Abnormality of alanine metabolism (HP:0010916)3.54019055
8Hyperalaninemia (HP:0003348)3.54019055
9Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.54019055
10Hypoplastic ischia (HP:0003175)3.31195778
11Intestinal atresia (HP:0011100)3.20082074
12Aqueductal stenosis (HP:0002410)3.16324893
13Aplasia/Hypoplasia of the tongue (HP:0010295)3.12024545
14Popliteal pterygium (HP:0009756)3.11606399
15Abnormality of the parathyroid morphology (HP:0011766)3.09219548
16Weak cry (HP:0001612)3.08639796
17Long clavicles (HP:0000890)3.08147353
18Abnormality of the neuromuscular junction (HP:0003398)3.00546709
19Fatigable weakness (HP:0003473)3.00546709
20Abnormality of the pubic bones (HP:0003172)2.85706079
21Decreased muscle mass (HP:0003199)2.71074963
22Pancreatic cysts (HP:0001737)2.70396604
23Anal stenosis (HP:0002025)2.70130956
24Abnormality of the renal cortex (HP:0011035)2.60213198
25Abdominal situs inversus (HP:0003363)2.59783255
26Abnormality of abdominal situs (HP:0011620)2.59783255
27Abnormality of the phalanges of the 2nd finger (HP:0009541)2.57172847
28Renal cortical cysts (HP:0000803)2.55903245
29Molar tooth sign on MRI (HP:0002419)2.52783457
30Abnormality of midbrain morphology (HP:0002418)2.52783457
31Easy fatigability (HP:0003388)2.50483829
32Bell-shaped thorax (HP:0001591)2.49101684
33Microglossia (HP:0000171)2.44645705
34Abnormal pancreas size (HP:0012094)2.38132887
35Neoplasm of the adrenal gland (HP:0100631)2.38037072
36Aplasia/Hypoplasia of the tibia (HP:0005772)2.36525716
37True hermaphroditism (HP:0010459)2.35599528
38Hypoplastic iliac wings (HP:0002866)2.34584743
39Concave nail (HP:0001598)2.32997475
40Periauricular skin pits (HP:0100277)2.32166293
41Preauricular pit (HP:0004467)2.32166293
42Inability to walk (HP:0002540)2.29930990
43Anencephaly (HP:0002323)2.27487967
44Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.27279195
45Septo-optic dysplasia (HP:0100842)2.24633242
46Poikiloderma (HP:0001029)2.23706236
47Medial flaring of the eyebrow (HP:0010747)2.23065701
48Abnormal ventriculo-arterial connection (HP:0011563)2.21716320
49Transposition of the great arteries (HP:0001669)2.21716320
50Abnormal connection of the cardiac segments (HP:0011545)2.21716320
51Entropion (HP:0000621)2.21367348
52Short tibia (HP:0005736)2.20865018
53Hypoplasia of the iris (HP:0007676)2.19756576
54Ependymoma (HP:0002888)2.19139776
55Depressed nasal tip (HP:0000437)2.19007038
56Hypomagnesemia (HP:0002917)2.18979061
57Posterior subcapsular cataract (HP:0007787)2.18785031
58Nonprogressive disorder (HP:0003680)2.16002803
59Oligodactyly (hands) (HP:0001180)2.13598679
60Breast carcinoma (HP:0003002)2.12773214
61Pancreatic fibrosis (HP:0100732)2.12715028
62Abnormal umbilical cord blood vessels (HP:0011403)2.10302953
63Single umbilical artery (HP:0001195)2.10302953
64Abnormality of the fetal cardiovascular system (HP:0010948)2.10302953
65Attenuation of retinal blood vessels (HP:0007843)2.07904556
66Neurodegeneration (HP:0002180)2.06591988
67Congenital primary aphakia (HP:0007707)2.04652787
68Nephronophthisis (HP:0000090)2.04418734
69Increased corneal curvature (HP:0100692)2.04132147
70Keratoconus (HP:0000563)2.04132147
71Stomach cancer (HP:0012126)2.02510724
72Aplasia/Hypoplasia of the scapulae (HP:0006713)2.00753709
73Hypoplastic scapulae (HP:0000882)2.00753709
74Absent septum pellucidum (HP:0001331)2.00489668
75Abnormality of DNA repair (HP:0003254)2.00279007
76Absent rod-and cone-mediated responses on ERG (HP:0007688)1.97997827
77Fibular aplasia (HP:0002990)1.97886022
78Pancreatic islet-cell hyperplasia (HP:0004510)1.97226742
79Patchy hypopigmentation of hair (HP:0011365)1.95562658
80Vaginal atresia (HP:0000148)1.94374443
81Genital tract atresia (HP:0001827)1.92927568
82Glioma (HP:0009733)1.90880629
83Neoplasm of the adrenal cortex (HP:0100641)1.90142770
84Gait imbalance (HP:0002141)1.90028079
85Ectropion (HP:0000656)1.88923784
86CNS demyelination (HP:0007305)1.87986997
87Neonatal respiratory distress (HP:0002643)1.87318332
88Amelogenesis imperfecta (HP:0000705)1.84661505
89Bifid tongue (HP:0010297)1.83182126
90Aplasia/Hypoplasia of the fovea (HP:0008060)1.81887180
91Hypoplasia of the fovea (HP:0007750)1.81887180
92Proximal tubulopathy (HP:0000114)1.81277607
93Abnormality of the renal medulla (HP:0100957)1.79578319
94Esophageal atresia (HP:0002032)1.79068267
95Abnormality of aspartate family amino acid metabolism (HP:0010899)1.78486072
96Mesomelia (HP:0003027)1.78353519
97Hypoplasia of the pons (HP:0012110)1.77975252
98Chronic hepatic failure (HP:0100626)1.77382294
99Anteriorly placed anus (HP:0001545)1.76362557
100Abnormal rod and cone electroretinograms (HP:0008323)1.75638515

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK8.45099079
2PDK26.64238537
3FRK3.75251025
4ERBB43.65331298
5ACVR1B3.31585688
6MST43.22084929
7TNIK3.09915501
8PBK2.97227020
9TRIM282.86575163
10BMPR1B2.85726830
11ZAK2.26315673
12MAP3K121.94884481
13EIF2AK31.91109163
14SIK31.69402018
15TGFBR11.58340911
16MAP4K21.57869507
17FGFR21.54352817
18NLK1.42218285
19STK391.37174638
20WNK31.28108420
21MKNK21.27268021
22GRK11.20917222
23BRD41.18970329
24PLK31.13248821
25EPHA21.07755976
26TSSK61.02258298
27NEK10.91509989
28TTK0.88399869
29WEE10.88270179
30PAK30.85995119
31MAP3K90.85839278
32MELK0.83705168
33BCR0.79971364
34STK30.72039846
35AKT30.70550764
36BUB10.69024065
37PRKCE0.67184223
38OXSR10.66128597
39PNCK0.65122291
40MKNK10.64301561
41MYLK0.63833637
42ERBB30.63461156
43DAPK20.61123677
44FER0.60882274
45PLK20.56529083
46NUAK10.52418911
47STK40.51644408
48NEK60.50831149
49EIF2AK20.50327078
50PRKCI0.48839057
51MARK30.48477668
52FGFR10.48472636
53STK100.47074800
54STK38L0.47034938
55PIK3CG0.46477347
56MAP2K10.43639413
57BRSK20.43309695
58PLK10.40300503
59CHUK0.39840785
60TAOK30.39726169
61EPHA40.39127849
62MAP3K40.37801564
63INSRR0.35710031
64DAPK10.32607391
65CDK40.31454157
66PIK3CA0.27064671
67ADRBK10.26177614
68MAP3K20.25938246
69IKBKB0.24792460
70PRKCG0.23803838
71EGFR0.21568938
72CHEK20.20123478
73VRK10.19991989
74CSNK1D0.19205793
75PRKACB0.18881976
76TAF10.18693642
77ABL10.18221748
78CSNK2A10.17384341
79PTK2B0.17341545
80CSNK2A20.17176183
81AURKB0.16201081
82PDK10.15840029
83MST1R0.15384893
84OBSCN0.14921641
85CAMK2D0.14311241
86TEC0.14307848
87PINK10.13065856
88ATR0.12581334
89CSNK1G10.12178876
90MAPK130.12017721
91PRKCQ0.11312416
92PRKCA0.11184315
93LIMK10.11141213
94MINK10.10608606
95CASK0.10473414
96PASK0.10304322
97TRPM70.09878568
98ROCK10.09799782
99CSNK1E0.09483516
100LRRK20.09034222

Predicted pathways (KEGG)

RankGene SetZ-score
1Propanoate metabolism_Homo sapiens_hsa006402.83566283
2Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.68139236
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.64900489
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.58805661
5Proteasome_Homo sapiens_hsa030502.47063493
6Butanoate metabolism_Homo sapiens_hsa006502.26435876
7Olfactory transduction_Homo sapiens_hsa047402.22342055
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.21389865
9Non-homologous end-joining_Homo sapiens_hsa034502.18761913
10Homologous recombination_Homo sapiens_hsa034402.18441525
11Selenocompound metabolism_Homo sapiens_hsa004502.12332182
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.12184633
13SNARE interactions in vesicular transport_Homo sapiens_hsa041302.07334700
14Nitrogen metabolism_Homo sapiens_hsa009102.06854142
15Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.06503292
16Glutathione metabolism_Homo sapiens_hsa004801.94248092
17Protein export_Homo sapiens_hsa030601.89029852
18Fanconi anemia pathway_Homo sapiens_hsa034601.82773434
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.81718523
20RNA degradation_Homo sapiens_hsa030181.78605097
21Phototransduction_Homo sapiens_hsa047441.74571481
22beta-Alanine metabolism_Homo sapiens_hsa004101.71742806
23Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.66133509
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.59149850
25Sphingolipid metabolism_Homo sapiens_hsa006001.56201897
26Caffeine metabolism_Homo sapiens_hsa002321.55364151
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.51979822
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51384084
29Retinol metabolism_Homo sapiens_hsa008301.50421242
30Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.47683943
31Peroxisome_Homo sapiens_hsa041461.47647216
32Pyruvate metabolism_Homo sapiens_hsa006201.44956003
33Chemical carcinogenesis_Homo sapiens_hsa052041.39012016
34Basal transcription factors_Homo sapiens_hsa030221.33815298
35Base excision repair_Homo sapiens_hsa034101.33075695
36Mismatch repair_Homo sapiens_hsa034301.26401335
37Fatty acid degradation_Homo sapiens_hsa000711.24260516
38Tryptophan metabolism_Homo sapiens_hsa003801.21570885
39Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.21415070
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.19760644
41Fat digestion and absorption_Homo sapiens_hsa049751.15630439
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.12933482
43Nucleotide excision repair_Homo sapiens_hsa034201.10376463
44Sulfur metabolism_Homo sapiens_hsa009201.09551438
45Hippo signaling pathway_Homo sapiens_hsa043901.06129608
46RNA transport_Homo sapiens_hsa030131.05466256
47TGF-beta signaling pathway_Homo sapiens_hsa043501.04743983
48alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.04600672
49RNA polymerase_Homo sapiens_hsa030201.03810007
50Folate biosynthesis_Homo sapiens_hsa007901.01503859
51Pentose and glucuronate interconversions_Homo sapiens_hsa000401.01490376
52Lysine degradation_Homo sapiens_hsa003100.98442754
53Steroid hormone biosynthesis_Homo sapiens_hsa001400.96849844
54p53 signaling pathway_Homo sapiens_hsa041150.95980130
55One carbon pool by folate_Homo sapiens_hsa006700.92729656
56ABC transporters_Homo sapiens_hsa020100.90380645
57Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.89759407
58PPAR signaling pathway_Homo sapiens_hsa033200.82140577
59Vitamin digestion and absorption_Homo sapiens_hsa049770.81926671
60Linoleic acid metabolism_Homo sapiens_hsa005910.81654542
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.75731468
62Oxidative phosphorylation_Homo sapiens_hsa001900.75597997
63Collecting duct acid secretion_Homo sapiens_hsa049660.74591707
64Regulation of autophagy_Homo sapiens_hsa041400.73131819
65Arginine biosynthesis_Homo sapiens_hsa002200.72996054
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72817267
67Tight junction_Homo sapiens_hsa045300.71984067
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71902149
69Basal cell carcinoma_Homo sapiens_hsa052170.70842665
70Circadian rhythm_Homo sapiens_hsa047100.66598180
71Calcium signaling pathway_Homo sapiens_hsa040200.65084150
72Glycerolipid metabolism_Homo sapiens_hsa005610.63266129
73Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63201635
74Metabolic pathways_Homo sapiens_hsa011000.59790581
75Legionellosis_Homo sapiens_hsa051340.57868985
76Drug metabolism - other enzymes_Homo sapiens_hsa009830.57493077
77N-Glycan biosynthesis_Homo sapiens_hsa005100.54439537
78Ether lipid metabolism_Homo sapiens_hsa005650.54281676
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53475781
80Huntingtons disease_Homo sapiens_hsa050160.53437905
81Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.53271621
82Purine metabolism_Homo sapiens_hsa002300.52854792
83Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.51582461
84Carbon metabolism_Homo sapiens_hsa012000.49756627
85mRNA surveillance pathway_Homo sapiens_hsa030150.49585282
86Parkinsons disease_Homo sapiens_hsa050120.47619379
87Wnt signaling pathway_Homo sapiens_hsa043100.44070155
88Arginine and proline metabolism_Homo sapiens_hsa003300.42923414
89Fatty acid elongation_Homo sapiens_hsa000620.41890460
90Taste transduction_Homo sapiens_hsa047420.41122010
91Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.40137969
92Oocyte meiosis_Homo sapiens_hsa041140.39281134
93Mineral absorption_Homo sapiens_hsa049780.38069674
94Maturity onset diabetes of the young_Homo sapiens_hsa049500.35304898
95Melanogenesis_Homo sapiens_hsa049160.32459771
96Hedgehog signaling pathway_Homo sapiens_hsa043400.31633923
97Glucagon signaling pathway_Homo sapiens_hsa049220.30717771
98Histidine metabolism_Homo sapiens_hsa003400.26334081
99Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.25252814
100Cell cycle_Homo sapiens_hsa041100.24603270

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