PDHA1P1

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
1righting reflex (GO:0060013)6.65788933
2histone mRNA catabolic process (GO:0071044)5.26935414
3protein K11-linked deubiquitination (GO:0035871)5.15194529
4histone H2A monoubiquitination (GO:0035518)4.99683032
5leukotriene biosynthetic process (GO:0019370)4.64226764
6mitochondrial fragmentation involved in apoptotic process (GO:0043653)4.38478159
7regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.37097495
8regulation of mitotic spindle checkpoint (GO:1903504)4.37097495
9positive regulation of cardiac muscle cell proliferation (GO:0060045)4.31016935
10morphogenesis of an epithelial sheet (GO:0002011)4.21643538
11histone H2A ubiquitination (GO:0033522)4.17001313
12prenylation (GO:0097354)4.12455119
13protein prenylation (GO:0018342)4.12455119
14protein K48-linked deubiquitination (GO:0071108)4.07314783
15monoubiquitinated protein deubiquitination (GO:0035520)3.91925675
16iron ion import (GO:0097286)3.83233912
17positive regulation of cardiac muscle tissue growth (GO:0055023)3.73611386
18mammary gland alveolus development (GO:0060749)3.73429463
19neural tube formation (GO:0001841)3.68242972
20mitochondrial fission (GO:0000266)3.63630954
21positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.63157414
22photoreceptor cell maintenance (GO:0045494)3.54847299
23detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.52909888
24histone H2A acetylation (GO:0043968)3.52762417
25cullin deneddylation (GO:0010388)3.50742822
26mechanosensory behavior (GO:0007638)3.48027300
27protein deneddylation (GO:0000338)3.45419659
28regulation of translation, ncRNA-mediated (GO:0045974)3.44140258
29negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.44140258
30negative regulation of translation, ncRNA-mediated (GO:0040033)3.44140258
31regulation of sarcomere organization (GO:0060297)3.42568366
32reflex (GO:0060004)3.41946476
33negative regulation of transcription regulatory region DNA binding (GO:2000678)3.41513969
34activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.38475124
35mitochondrion distribution (GO:0048311)3.37579928
36mRNA cleavage (GO:0006379)3.34241389
37auditory behavior (GO:0031223)3.34052680
38histone mRNA metabolic process (GO:0008334)3.33463558
39detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.32469281
40regulation of hippo signaling (GO:0035330)3.31092265
41regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.28824908
42negative regulation of histone methylation (GO:0031061)3.26810570
43regulation of cardiac muscle cell proliferation (GO:0060043)3.24258134
44epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.20827325
45negative regulation of execution phase of apoptosis (GO:1900118)3.20376491
46response to hydroperoxide (GO:0033194)3.19561702
47basic amino acid transport (GO:0015802)3.19378793
48forebrain neuron differentiation (GO:0021879)3.17657912
49olfactory bulb development (GO:0021772)3.15274017
50nucleotide-excision repair, DNA gap filling (GO:0006297)3.13138768
51positive regulation of heart growth (GO:0060421)3.03211556
52replication fork processing (GO:0031297)3.03179639
53bundle of His cell to Purkinje myocyte communication (GO:0086069)3.02735953
54positive regulation of cardiac muscle tissue development (GO:0055025)3.02417245
55phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.01560342
56smooth muscle tissue development (GO:0048745)3.01120490
57Notch signaling involved in heart development (GO:0061314)3.00966314
58leukotriene metabolic process (GO:0006691)3.00935892
59protein K63-linked deubiquitination (GO:0070536)3.00135428
60ventricular trabecula myocardium morphogenesis (GO:0003222)2.94633552
61RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.93582972
62attachment of spindle microtubules to kinetochore (GO:0008608)2.92844626
63somatic hypermutation of immunoglobulin genes (GO:0016446)2.90665189
64somatic diversification of immune receptors via somatic mutation (GO:0002566)2.90665189
65response to pheromone (GO:0019236)2.87353687
66detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.83964556
67ncRNA catabolic process (GO:0034661)2.83735448
68branched-chain amino acid catabolic process (GO:0009083)2.80537264
69nodal signaling pathway (GO:0038092)2.79156691
70glutamine metabolic process (GO:0006541)2.74040378
71cilium or flagellum-dependent cell motility (GO:0001539)2.70652903
72negative regulation of B cell proliferation (GO:0030889)2.70340308
73regulation of histone H3-K4 methylation (GO:0051569)2.68794520
74early endosome to late endosome transport (GO:0045022)2.67424260
75response to redox state (GO:0051775)2.67414183
76negative regulation of DNA recombination (GO:0045910)2.66312755
77protein maturation by protein folding (GO:0022417)2.65552081
78protein modification by small protein removal (GO:0070646)2.63835767
79regulation of neurotransmitter uptake (GO:0051580)2.63085249
80DNA double-strand break processing (GO:0000729)2.60173827
81rRNA catabolic process (GO:0016075)2.59325163
82L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.57123243
83exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.56534624
84resolution of meiotic recombination intermediates (GO:0000712)2.55375980
85telomere maintenance via semi-conservative replication (GO:0032201)2.54666509
86telomere maintenance via telomerase (GO:0007004)2.54596758
87positive regulation of bone mineralization (GO:0030501)2.54554365
88sister chromatid segregation (GO:0000819)2.54006798
89anterior/posterior axis specification, embryo (GO:0008595)2.52140093
90signal peptide processing (GO:0006465)2.51419400
91nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.51182479
92mitotic recombination (GO:0006312)2.51040794
93retinal cone cell development (GO:0046549)2.50664007
94S-adenosylmethionine metabolic process (GO:0046500)2.49386794
95chromatin remodeling at centromere (GO:0031055)2.48510625
96protein deubiquitination (GO:0016579)2.47043196
97dorsal/ventral axis specification (GO:0009950)2.46807308
98regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.46134840
99negative regulation of DNA-dependent DNA replication (GO:2000104)2.45953327
100telomere maintenance via recombination (GO:0000722)2.45490150

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.54623682
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.86562335
3FLI1_27457419_Chip-Seq_LIVER_Mouse3.45140410
4TAF15_26573619_Chip-Seq_HEK293_Human2.88401859
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.83705252
6IGF1R_20145208_ChIP-Seq_DFB_Human2.79125655
7ZNF274_21170338_ChIP-Seq_K562_Hela2.77312004
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.70347911
9PCGF2_27294783_Chip-Seq_ESCs_Mouse2.69955599
10CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.51490567
11E2F4_17652178_ChIP-ChIP_JURKAT_Human2.48141587
12EWS_26573619_Chip-Seq_HEK293_Human2.33444480
13VDR_22108803_ChIP-Seq_LS180_Human2.29825100
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.23745754
15PCGF2_27294783_Chip-Seq_NPCs_Mouse2.22689341
16BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.14330735
17E2F7_22180533_ChIP-Seq_HELA_Human2.09991243
18SUZ12_27294783_Chip-Seq_NPCs_Mouse2.03140167
19SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.01639644
20FUS_26573619_Chip-Seq_HEK293_Human2.01170667
21P300_19829295_ChIP-Seq_ESCs_Human1.91518133
22SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87071524
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86929522
24ER_23166858_ChIP-Seq_MCF-7_Human1.86415402
25IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.77783310
26CBP_20019798_ChIP-Seq_JUKART_Human1.77783310
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.75239772
28NFE2_27457419_Chip-Seq_LIVER_Mouse1.75083123
29POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.74568059
30TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.74568059
31AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.68128646
32SMAD4_21799915_ChIP-Seq_A2780_Human1.64992960
33GBX2_23144817_ChIP-Seq_PC3_Human1.64754578
34MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.64117795
35HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.58096651
36STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.54717475
37EZH2_27294783_Chip-Seq_NPCs_Mouse1.53733583
38STAT3_23295773_ChIP-Seq_U87_Human1.53614271
39IRF1_19129219_ChIP-ChIP_H3396_Human1.52595404
40GABP_17652178_ChIP-ChIP_JURKAT_Human1.46908521
41KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.46665672
42OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44747428
43NANOG_19829295_ChIP-Seq_ESCs_Human1.43587418
44SOX2_19829295_ChIP-Seq_ESCs_Human1.43587418
45ELK1_19687146_ChIP-ChIP_HELA_Human1.38275227
46UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36802601
47KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.36194853
48CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.35568002
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.34294737
50RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.34007170
51HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.33304539
52GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.32949384
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32703749
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30850478
55P53_22387025_ChIP-Seq_ESCs_Mouse1.28316670
56EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.26960591
57E2F1_18555785_Chip-Seq_ESCs_Mouse1.26104564
58SUZ12_18555785_Chip-Seq_ESCs_Mouse1.24552908
59SMAD4_21741376_ChIP-Seq_EPCs_Human1.23236479
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.23169536
61FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.22046965
62TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21785869
63VDR_23849224_ChIP-Seq_CD4+_Human1.20910907
64EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20704210
65STAT3_18555785_Chip-Seq_ESCs_Mouse1.20443119
66CRX_20693478_ChIP-Seq_RETINA_Mouse1.20204150
67TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19454946
68SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19428723
69TCF4_23295773_ChIP-Seq_U87_Human1.17140889
70P300_18555785_Chip-Seq_ESCs_Mouse1.16004051
71AR_25329375_ChIP-Seq_VCAP_Human1.14630263
72PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13439298
73CMYC_18555785_Chip-Seq_ESCs_Mouse1.12441276
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.10306585
75EGR1_23403033_ChIP-Seq_LIVER_Mouse1.09846180
76KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08953825
77OCT4_18555785_Chip-Seq_ESCs_Mouse1.07975617
78SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06953896
79SOX2_18555785_Chip-Seq_ESCs_Mouse1.05553119
80TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05123143
81EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.04481303
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.03779338
83CDX2_22108803_ChIP-Seq_LS180_Human1.03559634
84FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02104360
85FOXA1_21572438_ChIP-Seq_LNCaP_Human1.01871914
86PADI4_21655091_ChIP-ChIP_MCF-7_Human1.01394405
87OCT4_21477851_ChIP-Seq_ESCs_Mouse0.99542212
88CTCF_18555785_Chip-Seq_ESCs_Mouse0.99102799
89EST1_17652178_ChIP-ChIP_JURKAT_Human0.97935838
90NMYC_18555785_Chip-Seq_ESCs_Mouse0.97534025
91MYC_18940864_ChIP-ChIP_HL60_Human0.95382144
92FLI1_21867929_ChIP-Seq_TH2_Mouse0.95151835
93RUNX2_22187159_ChIP-Seq_PCA_Human0.94597066
94TCF4_22108803_ChIP-Seq_LS180_Human0.92525245
95PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.90568588
96TP53_16413492_ChIP-PET_HCT116_Human0.90124123
97KLF4_18555785_Chip-Seq_ESCs_Mouse0.90088021
98RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88219728
99PIAS1_25552417_ChIP-Seq_VCAP_Human0.87853964
100CTBP1_25329375_ChIP-Seq_LNCAP_Human0.87086285

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.50151128
2MP0000569_abnormal_digit_pigmentation4.47654167
3MP0003786_premature_aging4.11158890
4MP0010234_abnormal_vibrissa_follicle4.03843813
5MP0001529_abnormal_vocalization3.04918205
6MP0005666_abnormal_adipose_tissue2.62016638
7MP0003137_abnormal_impulse_conducting2.53004766
8MP0003890_abnormal_embryonic-extraembry2.44708161
9MP0001958_emphysema2.44257273
10MP0004019_abnormal_vitamin_homeostasis2.30739459
11MP0004147_increased_porphyrin_level2.22710678
12MP0005084_abnormal_gallbladder_morpholo2.19471358
13MP0005670_abnormal_white_adipose2.07469613
14MP0010678_abnormal_skin_adnexa1.96881431
15MP0002102_abnormal_ear_morphology1.96703212
16MP0003195_calcinosis1.95915441
17MP0008877_abnormal_DNA_methylation1.88422281
18MP0003567_abnormal_fetal_cardiomyocyte1.88187508
19MP0005379_endocrine/exocrine_gland_phen1.86811227
20MP0010094_abnormal_chromosome_stability1.86715608
21MP0002837_dystrophic_cardiac_calcinosis1.84803127
22MP0002254_reproductive_system_inflammat1.82599607
23MP0008058_abnormal_DNA_repair1.77542905
24MP0006072_abnormal_retinal_apoptosis1.76944583
25MP0003252_abnormal_bile_duct1.76234528
26MP0002163_abnormal_gland_morphology1.73068411
27MP0000631_abnormal_neuroendocrine_gland1.72576386
28MP0003186_abnormal_redox_activity1.72475440
29MP0000427_abnormal_hair_cycle1.61720914
30MP0002168_other_aberrant_phenotype1.55764524
31MP0001765_abnormal_ion_homeostasis1.44387952
32MP0002928_abnormal_bile_duct1.43362338
33MP0005551_abnormal_eye_electrophysiolog1.42527322
34MP0003656_abnormal_erythrocyte_physiolo1.41849102
35MP0005395_other_phenotype1.37032833
36MP0008007_abnormal_cellular_replicative1.35743516
37MP0002971_abnormal_brown_adipose1.33852331
38MP0005623_abnormal_meninges_morphology1.31207069
39MP0003718_maternal_effect1.30499478
40MP0001486_abnormal_startle_reflex1.28486328
41MP0000383_abnormal_hair_follicle1.27373276
42MP0001188_hyperpigmentation1.26664805
43MP0005375_adipose_tissue_phenotype1.24566618
44MP0003941_abnormal_skin_development1.24182818
45MP0008995_early_reproductive_senescence1.24134327
46MP0003950_abnormal_plasma_membrane1.22117133
47MP0002693_abnormal_pancreas_physiology1.20771561
48MP0002108_abnormal_muscle_morphology1.19880112
49MP0008961_abnormal_basal_metabolism1.17971246
50MP0005083_abnormal_biliary_tract1.14080915
51MP0005253_abnormal_eye_physiology1.13046373
52MP0002736_abnormal_nociception_after1.12452418
53MP0002970_abnormal_white_adipose1.07529708
54MP0001485_abnormal_pinna_reflex1.07229197
55MP0005386_behavior/neurological_phenoty1.07063884
56MP0004924_abnormal_behavior1.07063884
57MP0008932_abnormal_embryonic_tissue1.00911002
58MP0003787_abnormal_imprinting0.98741223
59MP0002234_abnormal_pharynx_morphology0.97921569
60MP0003077_abnormal_cell_cycle0.97477536
61MP0005501_abnormal_skin_physiology0.97319120
62MP0003111_abnormal_nucleus_morphology0.97103616
63MP0001501_abnormal_sleep_pattern0.96432148
64MP0001944_abnormal_pancreas_morphology0.96174903
65MP0005174_abnormal_tail_pigmentation0.94632295
66MP0005636_abnormal_mineral_homeostasis0.93350215
67MP0003937_abnormal_limbs/digits/tail_de0.93339106
68MP0000377_abnormal_hair_follicle0.93275267
69MP0003693_abnormal_embryo_hatching0.92820064
70MP0005535_abnormal_body_temperature0.91923684
71MP0002090_abnormal_vision0.90307178
72MP0003121_genomic_imprinting0.86920660
73MP0004270_analgesia0.83836704
74MP0006292_abnormal_olfactory_placode0.83658518
75MP0001881_abnormal_mammary_gland0.83372512
76MP0005647_abnormal_sex_gland0.82708473
77MP0001191_abnormal_skin_condition0.82650277
78MP0000371_diluted_coat_color0.80877538
79MP0005220_abnormal_exocrine_pancreas0.78728429
80MP0001293_anophthalmia0.78512421
81MP0002177_abnormal_outer_ear0.78071123
82MP0000647_abnormal_sebaceous_gland0.77770782
83MP0002009_preneoplasia0.76944697
84MP0000470_abnormal_stomach_morphology0.75419429
85MP0001929_abnormal_gametogenesis0.74144598
86MP0001764_abnormal_homeostasis0.72119972
87MP0002876_abnormal_thyroid_physiology0.71053074
88MP0005266_abnormal_metabolism0.68242539
89MP0002088_abnormal_embryonic_growth/wei0.66822875
90MP0004957_abnormal_blastocyst_morpholog0.65937628
91MP0004742_abnormal_vestibular_system0.65417029
92MP0004085_abnormal_heartbeat0.65106190
93MP0005408_hypopigmentation0.65021041
94MP0002078_abnormal_glucose_homeostasis0.64695193
95MP0003984_embryonic_growth_retardation0.64532211
96MP0001968_abnormal_touch/_nociception0.63227096
97MP0005310_abnormal_salivary_gland0.61953644
98MP0003183_abnormal_peptide_metabolism0.60971366
99MP0002938_white_spotting0.60608463
100MP0000613_abnormal_salivary_gland0.60124503

Predicted human phenotypes

RankGene SetZ-score
1Progressive inability to walk (HP:0002505)6.54139721
2Vascular calcification (HP:0004934)5.96970549
3Submucous cleft hard palate (HP:0000176)5.55938498
4Cardiovascular calcification (HP:0011915)5.23957124
5Septate vagina (HP:0001153)5.07280589
6Large for gestational age (HP:0001520)4.25574897
7Hyperphosphatemia (HP:0002905)4.25515830
8Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.89624026
9Abnormality of alanine metabolism (HP:0010916)3.89624026
10Hyperalaninemia (HP:0003348)3.89624026
11Taurodontia (HP:0000679)3.76907572
12Abnormality of permanent molar morphology (HP:0011071)3.76907572
13Abnormality of the dental root (HP:0006486)3.76907572
14Inability to walk (HP:0002540)3.69696988
15Abnormality of renal resorption (HP:0011038)3.66958998
16Protruding tongue (HP:0010808)3.60718201
17Persistence of primary teeth (HP:0006335)3.55758467
18Abnormality of molar (HP:0011077)3.48002545
19Abnormality of molar morphology (HP:0011070)3.48002545
20Abnormality of the dental pulp (HP:0006479)3.45512953
21Dyschromatopsia (HP:0007641)3.21939516
22Optic nerve coloboma (HP:0000588)3.03727446
23Pancreatic islet-cell hyperplasia (HP:0004510)2.94804415
24Abnormal number of incisors (HP:0011064)2.90963665
25Abnormality of renal excretion (HP:0011036)2.83980868
26Pancreatic cysts (HP:0001737)2.76921883
27Febrile seizures (HP:0002373)2.69475303
28Exotropia (HP:0000577)2.67830896
29Duplicated collecting system (HP:0000081)2.63804378
30Midline defect of the nose (HP:0004122)2.56224847
31Rectal fistula (HP:0100590)2.55371868
32Rectovaginal fistula (HP:0000143)2.55371868
33Abnormality of chromosome stability (HP:0003220)2.55138364
34Abnormality of the labia minora (HP:0012880)2.50473423
35Decreased electroretinogram (ERG) amplitude (HP:0000654)2.37829427
36Intestinal atresia (HP:0011100)2.36524026
37Abnormality of the renal collecting system (HP:0004742)2.34382534
38Pancreatic fibrosis (HP:0100732)2.33895441
39Aplasia/Hypoplasia of the spleen (HP:0010451)2.33285923
40Abnormality of the renal cortex (HP:0011035)2.32330399
41Abnormality of the pons (HP:0007361)2.30282233
42Chromosomal breakage induced by crosslinking agents (HP:0003221)2.23657625
43Thyroiditis (HP:0100646)2.22146203
44Increased number of teeth (HP:0011069)2.21630141
45Intestinal fistula (HP:0100819)2.21434430
46Oligodactyly (hands) (HP:0001180)2.19319699
47Medial flaring of the eyebrow (HP:0010747)2.16190256
48Tubulointerstitial nephritis (HP:0001970)2.13714518
49Nephronophthisis (HP:0000090)2.13487756
50Nephrocalcinosis (HP:0000121)2.13130884
51Absent speech (HP:0001344)2.12909692
52Genetic anticipation (HP:0003743)2.12390394
53Preaxial hand polydactyly (HP:0001177)2.12034409
54Clitoromegaly (HP:0000057)2.09740709
55Asplenia (HP:0001746)2.09187662
56Tetraparesis (HP:0002273)2.08889392
57Abnormality of the renal medulla (HP:0100957)2.05360530
58Abnormality of the ileum (HP:0001549)2.05319412
59Methylmalonic acidemia (HP:0002912)2.03829653
60Chromsome breakage (HP:0040012)2.02538117
61Fair hair (HP:0002286)2.02310793
62Vaginal fistula (HP:0004320)2.02124788
63Supernumerary spleens (HP:0009799)1.96119685
64Molar tooth sign on MRI (HP:0002419)1.94993040
65Abnormality of midbrain morphology (HP:0002418)1.94993040
66Genital tract atresia (HP:0001827)1.93984762
67Rhabdomyosarcoma (HP:0002859)1.93485435
68Decreased circulating renin level (HP:0003351)1.92954084
69Insulin-resistant diabetes mellitus (HP:0000831)1.92356239
70Chronic hepatic failure (HP:0100626)1.90850268
71Meckel diverticulum (HP:0002245)1.90204878
72Medulloblastoma (HP:0002885)1.86768766
73Azoospermia (HP:0000027)1.86459119
74Aplasia/Hypoplasia of the uvula (HP:0010293)1.85922330
75Tubular atrophy (HP:0000092)1.85826444
76Hypothermia (HP:0002045)1.84322076
77Aplasia/Hypoplasia of the tibia (HP:0005772)1.78023519
78Vaginal atresia (HP:0000148)1.77927479
79Attenuation of retinal blood vessels (HP:0007843)1.77647931
80Abnormal biliary tract physiology (HP:0012439)1.76649883
81Bile duct proliferation (HP:0001408)1.76649883
82Hip dysplasia (HP:0001385)1.75222340
83True hermaphroditism (HP:0010459)1.73311301
84Renal cortical cysts (HP:0000803)1.73133957
85Abnormal spermatogenesis (HP:0008669)1.71266243
86Cone-rod dystrophy (HP:0000548)1.70960757
87Abnormality of the preputium (HP:0100587)1.70843147
88Absent septum pellucidum (HP:0001331)1.70388123
89Carpal bone hypoplasia (HP:0001498)1.69832987
90Neoplasm of striated muscle (HP:0009728)1.68866233
91Bifid tongue (HP:0010297)1.68099262
92Abnormality of endocrine pancreas physiology (HP:0012093)1.66561389
93Abnormality of the pancreatic islet cells (HP:0006476)1.66561389
94Hypoproteinemia (HP:0003075)1.65033780
95Progressive cerebellar ataxia (HP:0002073)1.64678101
96Neoplasm of the oral cavity (HP:0100649)1.64650966
97Ependymoma (HP:0002888)1.64199994
98Absent radius (HP:0003974)1.63993543
99Congenital primary aphakia (HP:0007707)1.63877513
100Abolished electroretinogram (ERG) (HP:0000550)1.62649646

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERBB46.45697357
2PDK24.31415122
3FRK3.80802242
4TRIM283.10680326
5AKT32.84448195
6WNK32.82347433
7ACVR1B2.72629177
8EIF2AK32.36650177
9TAOK12.30457635
10MAP3K142.23513265
11MKNK22.08801471
12BUB11.93867244
13NLK1.92640885
14INSRR1.90541140
15MKNK11.69047697
16PIK3CG1.55264035
17OXSR11.43014537
18TSSK61.37533388
19CSNK1G11.19172204
20STK161.18120968
21TNIK1.18051148
22STK31.13271958
23TGFBR21.09862031
24SGK21.09802385
25MST41.09582660
26CAMKK21.08345338
27STK38L1.05995315
28BRSK21.04084440
29PAK31.04034118
30STK240.99451358
31CASK0.97259275
32ADRBK20.95309191
33MARK30.90504509
34CAMK40.89169919
35SRPK10.88882559
36BMPR1B0.88109723
37PBK0.87370005
38DYRK30.87188442
39STK110.83389009
40CSNK1A1L0.79133083
41NUAK10.78461564
42WNK40.78301253
43MAP4K20.77848292
44TTK0.76133756
45PLK10.76112085
46ZAK0.75634555
47PLK30.72746228
48EIF2AK20.72692427
49STK100.72429218
50CDK90.72104332
51PLK40.69927772
52DYRK1A0.69663193
53BCR0.65759814
54MAPK130.65587062
55KSR10.65343869
56OBSCN0.63250764
57STK40.61458215
58TNK20.60116980
59ATM0.58418068
60YES10.57906880
61GRK70.57212509
62CDK30.55957361
63TLK10.55581523
64MAP3K40.55437990
65SGK2230.54839779
66SGK4940.54839779
67GRK10.53889082
68STK390.53886194
69ATR0.53818845
70TEC0.53798868
71ERBB30.53180909
72NEK10.51576928
73MARK20.51502688
74CAMK2A0.51380880
75BRAF0.51112194
76CAMK1G0.50023303
77WEE10.49683870
78TGFBR10.49013596
79PRKCE0.48302349
80AURKB0.47108998
81FES0.46930134
82CAMK1D0.46051107
83TAOK30.45097349
84PRKCI0.44121439
85CSNK1G30.43778524
86BLK0.42782015
87SGK30.41358866
88PRKCQ0.41004000
89BRD40.40125204
90CAMK2D0.39423597
91PIK3CA0.36472345
92ERBB20.35386264
93CHEK20.35263262
94MAP2K20.34166274
95FGFR20.33960786
96CDK80.33799598
97CSNK1G20.33503345
98PIM10.33396892
99FLT30.32000059
100CHEK10.31938549

Predicted pathways (KEGG)

RankGene SetZ-score
1Pentose and glucuronate interconversions_Homo sapiens_hsa000403.57428512
2Vitamin B6 metabolism_Homo sapiens_hsa007503.34601447
3Mismatch repair_Homo sapiens_hsa034303.11694780
4Propanoate metabolism_Homo sapiens_hsa006402.88984409
5Fanconi anemia pathway_Homo sapiens_hsa034602.74130926
6Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.63575748
7Non-homologous end-joining_Homo sapiens_hsa034502.63321597
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.39958968
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.22499155
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.20375855
11Homologous recombination_Homo sapiens_hsa034402.18052946
12Circadian rhythm_Homo sapiens_hsa047102.08220874
13Selenocompound metabolism_Homo sapiens_hsa004502.05763949
14Steroid biosynthesis_Homo sapiens_hsa001002.05390032
15Starch and sucrose metabolism_Homo sapiens_hsa005002.01300492
16DNA replication_Homo sapiens_hsa030301.97122677
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.94448032
18Cyanoamino acid metabolism_Homo sapiens_hsa004601.91097664
19Taste transduction_Homo sapiens_hsa047421.90143101
20RNA degradation_Homo sapiens_hsa030181.77740268
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.70578549
22Phototransduction_Homo sapiens_hsa047441.66813870
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.66490030
24Butanoate metabolism_Homo sapiens_hsa006501.64828804
25Ether lipid metabolism_Homo sapiens_hsa005651.58300835
26Nitrogen metabolism_Homo sapiens_hsa009101.45158783
27RNA transport_Homo sapiens_hsa030131.40505206
28Longevity regulating pathway - mammal_Homo sapiens_hsa042111.38466921
29Arginine biosynthesis_Homo sapiens_hsa002201.37852581
30p53 signaling pathway_Homo sapiens_hsa041151.33774731
31Nicotine addiction_Homo sapiens_hsa050331.28608090
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.27732537
33Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.12742486
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.11601648
35beta-Alanine metabolism_Homo sapiens_hsa004101.07727624
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.07369663
37RNA polymerase_Homo sapiens_hsa030201.06758231
38Linoleic acid metabolism_Homo sapiens_hsa005911.05295562
39Nucleotide excision repair_Homo sapiens_hsa034201.04465349
40Lysine degradation_Homo sapiens_hsa003101.02072273
41Pyruvate metabolism_Homo sapiens_hsa006201.00576729
42One carbon pool by folate_Homo sapiens_hsa006700.98764431
43NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96842989
44Protein export_Homo sapiens_hsa030600.92083221
45Systemic lupus erythematosus_Homo sapiens_hsa053220.88598631
46GABAergic synapse_Homo sapiens_hsa047270.88164390
47Asthma_Homo sapiens_hsa053100.85624256
48Colorectal cancer_Homo sapiens_hsa052100.83681934
49Arachidonic acid metabolism_Homo sapiens_hsa005900.81721328
50Basal transcription factors_Homo sapiens_hsa030220.80554312
51Pyrimidine metabolism_Homo sapiens_hsa002400.80129478
52Folate biosynthesis_Homo sapiens_hsa007900.79003530
53Fatty acid elongation_Homo sapiens_hsa000620.74073716
54Calcium signaling pathway_Homo sapiens_hsa040200.72265381
55Legionellosis_Homo sapiens_hsa051340.71109872
56Cell cycle_Homo sapiens_hsa041100.69773859
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69390791
58Inositol phosphate metabolism_Homo sapiens_hsa005620.68540889
59Phosphatidylinositol signaling system_Homo sapiens_hsa040700.66819771
60Tryptophan metabolism_Homo sapiens_hsa003800.66597772
61mRNA surveillance pathway_Homo sapiens_hsa030150.65466744
62Fatty acid degradation_Homo sapiens_hsa000710.62958723
63Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.61586904
64Alcoholism_Homo sapiens_hsa050340.61131832
65Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.60739786
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57839504
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56996127
68Purine metabolism_Homo sapiens_hsa002300.54744337
69Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.50665249
70Proteasome_Homo sapiens_hsa030500.49447795
71Glucagon signaling pathway_Homo sapiens_hsa049220.48268901
72Fat digestion and absorption_Homo sapiens_hsa049750.47844936
73Oocyte meiosis_Homo sapiens_hsa041140.45981467
74Circadian entrainment_Homo sapiens_hsa047130.43567161
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.43358627
76Primary bile acid biosynthesis_Homo sapiens_hsa001200.43222975
77Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42874603
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41463689
79Steroid hormone biosynthesis_Homo sapiens_hsa001400.41437158
80Serotonergic synapse_Homo sapiens_hsa047260.40378135
81Fatty acid metabolism_Homo sapiens_hsa012120.40154369
82Metabolic pathways_Homo sapiens_hsa011000.39751190
83Spliceosome_Homo sapiens_hsa030400.39731850
84TGF-beta signaling pathway_Homo sapiens_hsa043500.37985284
85Morphine addiction_Homo sapiens_hsa050320.37305216
86Hedgehog signaling pathway_Homo sapiens_hsa043400.34141727
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.30228293
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30176371
89Base excision repair_Homo sapiens_hsa034100.28465475
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.28373092
91Vitamin digestion and absorption_Homo sapiens_hsa049770.28256960
92Glutathione metabolism_Homo sapiens_hsa004800.27729730
93Olfactory transduction_Homo sapiens_hsa047400.26987173
94Histidine metabolism_Homo sapiens_hsa003400.25450812
95Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.23873721
96Glutamatergic synapse_Homo sapiens_hsa047240.23636025
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.22395833
98Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.21632310
99ABC transporters_Homo sapiens_hsa020100.21020000
100Transcriptional misregulation in cancer_Homo sapiens_hsa052020.18504080

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