HERC2P4

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 memory T cell differentiation (GO:0043380)6.56757114
2negative regulation of multicellular organism growth (GO:0040015)6.31569511
3sex differentiation (GO:0007548)5.84893141
4kynurenine metabolic process (GO:0070189)5.70057811
5tryptophan catabolic process (GO:0006569)5.48791464
6indole-containing compound catabolic process (GO:0042436)5.48791464
7indolalkylamine catabolic process (GO:0046218)5.48791464
8regulation of establishment of cell polarity (GO:2000114)5.36319320
9cytoplasmic mRNA processing body assembly (GO:0033962)4.98231565
10tryptophan metabolic process (GO:0006568)4.74945317
11piRNA metabolic process (GO:0034587)4.74145515
12regulation of MHC class I biosynthetic process (GO:0045343)4.72436346
13indolalkylamine metabolic process (GO:0006586)4.58847920
14behavioral response to nicotine (GO:0035095)4.41654590
15ADP metabolic process (GO:0046031)4.40758528
16regulation of establishment or maintenance of cell polarity (GO:0032878)4.38430048
17L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.31628302
18regulation of action potential (GO:0098900)4.10204520
19DNA methylation involved in gamete generation (GO:0043046)4.06653380
20cholesterol catabolic process (GO:0006707)4.04927937
21sterol catabolic process (GO:0016127)4.04927937
22detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.94614325
23cellular ketone body metabolic process (GO:0046950)3.81026480
24L-fucose catabolic process (GO:0042355)3.74695077
25fucose catabolic process (GO:0019317)3.74695077
26L-fucose metabolic process (GO:0042354)3.74695077
27synapsis (GO:0007129)3.71704250
28amino acid salvage (GO:0043102)3.67912780
29L-methionine salvage (GO:0071267)3.67912780
30L-methionine biosynthetic process (GO:0071265)3.67912780
31cilium or flagellum-dependent cell motility (GO:0001539)3.66583402
32indole-containing compound metabolic process (GO:0042430)3.60121416
33amine catabolic process (GO:0009310)3.51691223
34cellular biogenic amine catabolic process (GO:0042402)3.51691223
35ketone body metabolic process (GO:1902224)3.48294726
36cerebellar Purkinje cell differentiation (GO:0021702)3.47899167
37synaptic transmission, cholinergic (GO:0007271)3.47567902
38positive regulation of vasculogenesis (GO:2001214)3.47338271
39male meiosis I (GO:0007141)3.44264429
40detection of light stimulus involved in sensory perception (GO:0050962)3.43885053
41detection of light stimulus involved in visual perception (GO:0050908)3.43885053
42negative regulation of mast cell activation (GO:0033004)3.41698137
43aromatic amino acid family catabolic process (GO:0009074)3.35955879
44NAD biosynthetic process (GO:0009435)3.32638311
45negative regulation of type 2 immune response (GO:0002829)3.31273317
46epithelial cilium movement (GO:0003351)3.27771144
47regulation of gene silencing by RNA (GO:0060966)3.27084842
48regulation of posttranscriptional gene silencing (GO:0060147)3.27084842
49regulation of gene silencing by miRNA (GO:0060964)3.27084842
50nucleoside diphosphate catabolic process (GO:0009134)3.26741145
51response to pheromone (GO:0019236)3.26215087
52regulation of interleukin-13 production (GO:0032656)3.26194395
53epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.25305160
54rRNA catabolic process (GO:0016075)3.14287749
55acrosome assembly (GO:0001675)3.14190259
56cilium movement (GO:0003341)3.12250457
57male meiosis (GO:0007140)3.05971016
58bile acid biosynthetic process (GO:0006699)3.04808151
59neural tube formation (GO:0001841)3.02564245
60benzene-containing compound metabolic process (GO:0042537)3.01836988
61signal peptide processing (GO:0006465)3.00681913
62methionine biosynthetic process (GO:0009086)2.99949268
63axonemal dynein complex assembly (GO:0070286)2.97390124
64estrogen biosynthetic process (GO:0006703)2.97318435
65neuronal action potential propagation (GO:0019227)2.96779060
66detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.96476491
67regulation of interleukin-5 production (GO:0032674)2.96212978
68cellular response to ATP (GO:0071318)2.95931725
69neuronal action potential (GO:0019228)2.93707599
70alternative mRNA splicing, via spliceosome (GO:0000380)2.91723644
71behavioral response to ethanol (GO:0048149)2.91402123
72aromatic amino acid family metabolic process (GO:0009072)2.91295311
73somite rostral/caudal axis specification (GO:0032525)2.91100233
74stress granule assembly (GO:0034063)2.88876362
75regulation of vasculogenesis (GO:2001212)2.88715365
76centrosome duplication (GO:0051298)2.87089166
77lipid particle organization (GO:0034389)2.86585511
78auditory receptor cell stereocilium organization (GO:0060088)2.85002688
79negative regulation of reactive oxygen species metabolic process (GO:2000378)2.84911469
80photoreceptor cell maintenance (GO:0045494)2.82440352
81serotonin metabolic process (GO:0042428)2.80580692
82reciprocal DNA recombination (GO:0035825)2.80147313
83reciprocal meiotic recombination (GO:0007131)2.80147313
84seminiferous tubule development (GO:0072520)2.77843705
85preassembly of GPI anchor in ER membrane (GO:0016254)2.77122316
86detection of mechanical stimulus involved in sensory perception (GO:0050974)2.76649338
87negative regulation of receptor-mediated endocytosis (GO:0048261)2.75746691
88regulation of sarcomere organization (GO:0060297)2.72668255
89meiotic chromosome segregation (GO:0045132)2.72383015
90primary amino compound metabolic process (GO:1901160)2.71341436
91G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.67020306
92meiosis I (GO:0007127)2.66992754
93multicellular organism reproduction (GO:0032504)2.63915524
94dopamine transport (GO:0015872)2.62984238
95reflex (GO:0060004)2.60249344
96centriole replication (GO:0007099)2.58136144
97sulfation (GO:0051923)2.55582743
98detection of chemical stimulus involved in sensory perception (GO:0050907)2.53326561
99platelet dense granule organization (GO:0060155)2.49597164
100NADH dehydrogenase complex assembly (GO:0010257)2.49554293

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.65314089
2* VDR_22108803_ChIP-Seq_LS180_Human3.56911227
3ZNF274_21170338_ChIP-Seq_K562_Hela3.47318814
4GBX2_23144817_ChIP-Seq_PC3_Human3.27503659
5EZH2_22144423_ChIP-Seq_EOC_Human3.14082022
6IGF1R_20145208_ChIP-Seq_DFB_Human2.93300754
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.85966901
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.76325346
9TAF15_26573619_Chip-Seq_HEK293_Human2.73298901
10* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.63840519
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.58150261
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40372426
13* ER_23166858_ChIP-Seq_MCF-7_Human2.26002913
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19808949
15FUS_26573619_Chip-Seq_HEK293_Human2.14519750
16* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.13163761
17BCAT_22108803_ChIP-Seq_LS180_Human2.03982888
18P300_19829295_ChIP-Seq_ESCs_Human1.93460198
19EWS_26573619_Chip-Seq_HEK293_Human1.88464779
20FLI1_27457419_Chip-Seq_LIVER_Mouse1.86136375
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.75049711
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.72249217
23EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.71717161
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.69980897
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.69111310
26STAT3_23295773_ChIP-Seq_U87_Human1.67369148
27* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.64698971
28IRF1_19129219_ChIP-ChIP_H3396_Human1.62294437
29EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.62092195
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58646393
31SMAD4_21799915_ChIP-Seq_A2780_Human1.55537031
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.54856251
33TCF4_23295773_ChIP-Seq_U87_Human1.54341521
34MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.50383975
35TP53_22573176_ChIP-Seq_HFKS_Human1.46472171
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45895125
37HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.43396036
38FOXA1_25329375_ChIP-Seq_VCAP_Human1.43129383
39FOXA1_27270436_Chip-Seq_PROSTATE_Human1.43129383
40AR_25329375_ChIP-Seq_VCAP_Human1.42983001
41RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41960203
42* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40289163
43* CBP_20019798_ChIP-Seq_JUKART_Human1.40289163
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38806351
45FOXA1_21572438_ChIP-Seq_LNCaP_Human1.38444269
46PCGF2_27294783_Chip-Seq_ESCs_Mouse1.36018653
47TCF4_22108803_ChIP-Seq_LS180_Human1.32875704
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.32493941
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32220993
50REST_21632747_ChIP-Seq_MESCs_Mouse1.31667757
51MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30232920
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29891916
53NOTCH1_21737748_ChIP-Seq_TLL_Human1.28461166
54SMAD4_21741376_ChIP-Seq_EPCs_Human1.27469741
55* RUNX2_22187159_ChIP-Seq_PCA_Human1.25595062
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.25048089
57* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.24671687
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.23858942
59ETV2_25802403_ChIP-Seq_MESCs_Mouse1.23071797
60BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22658786
61* NCOR_22424771_ChIP-Seq_293T_Human1.22047320
62CDX2_22108803_ChIP-Seq_LS180_Human1.21127616
63MYC_18940864_ChIP-ChIP_HL60_Human1.19490205
64TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18962756
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18962756
66AR_20517297_ChIP-Seq_VCAP_Human1.16210031
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.14659499
68NANOG_19829295_ChIP-Seq_ESCs_Human1.14523658
69SOX2_19829295_ChIP-Seq_ESCs_Human1.14523658
70TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14479474
71PRDM14_20953172_ChIP-Seq_ESCs_Human1.12704096
72DROSHA_22980978_ChIP-Seq_HELA_Human1.12693877
73OCT1_27270436_Chip-Seq_PROSTATE_Human1.12219065
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.11305297
75TAL1_26923725_Chip-Seq_HPCs_Mouse1.10555091
76NFE2_27457419_Chip-Seq_LIVER_Mouse1.08390406
77GATA3_21878914_ChIP-Seq_MCF-7_Human1.08341478
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07697497
79AR_21572438_ChIP-Seq_LNCaP_Human1.06700902
80* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04985084
81TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.03414690
82HOXB7_26014856_ChIP-Seq_BT474_Human1.03236905
83ERA_21632823_ChIP-Seq_H3396_Human1.03071896
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02119220
85CRX_20693478_ChIP-Seq_RETINA_Mouse1.01280667
86FLI1_21867929_ChIP-Seq_TH2_Mouse1.01062697
87NANOG_18555785_Chip-Seq_ESCs_Mouse0.99363441
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.98405752
89* OCT4_20526341_ChIP-Seq_ESCs_Human0.98120502
90FOXH1_21741376_ChIP-Seq_EPCs_Human0.97790926
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97600183
92KDM2B_26808549_Chip-Seq_REH_Human0.97010301
93CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.96575030
94ETV1_20927104_ChIP-Seq_GIST48_Human0.96394368
95MYC_19829295_ChIP-Seq_ESCs_Human0.96073697
96TAF2_19829295_ChIP-Seq_ESCs_Human0.95590260
97* TBL1_22424771_ChIP-Seq_293T_Human0.95398862
98NFYB_21822215_ChIP-Seq_K562_Human0.94667009
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94228242
100PHF8_20622853_ChIP-Seq_HELA_Human0.93950483

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.31140906
2MP0003011_delayed_dark_adaptation3.20075322
3MP0001986_abnormal_taste_sensitivity3.13219883
4MP0003252_abnormal_bile_duct3.12818070
5MP0001968_abnormal_touch/_nociception3.09017564
6MP0002736_abnormal_nociception_after3.04816741
7MP0003136_yellow_coat_color2.92496705
8MP0008877_abnormal_DNA_methylation2.70481478
9MP0005551_abnormal_eye_electrophysiolog2.52879428
10MP0003195_calcinosis2.44222733
11MP0002837_dystrophic_cardiac_calcinosis2.37205729
12MP0000372_irregular_coat_pigmentation2.33880696
13MP0002102_abnormal_ear_morphology2.32571361
14MP0005646_abnormal_pituitary_gland2.30720111
15MP0001501_abnormal_sleep_pattern2.14204013
16MP0004147_increased_porphyrin_level2.11152093
17MP0009046_muscle_twitch2.08638441
18MP0005253_abnormal_eye_physiology2.07694036
19MP0009745_abnormal_behavioral_response2.07173085
20MP0005174_abnormal_tail_pigmentation2.00790217
21MP0005171_absent_coat_pigmentation1.95959008
22MP0003646_muscle_fatigue1.94428995
23MP0000427_abnormal_hair_cycle1.92781245
24MP0003718_maternal_effect1.80884958
25MP0006072_abnormal_retinal_apoptosis1.68867250
26MP0004885_abnormal_endolymph1.64616083
27MP0002272_abnormal_nervous_system1.58727023
28MP0005410_abnormal_fertilization1.56360085
29MP0001486_abnormal_startle_reflex1.51564191
30MP0002638_abnormal_pupillary_reflex1.49879750
31MP0002938_white_spotting1.48118207
32MP0002876_abnormal_thyroid_physiology1.45735663
33MP0000371_diluted_coat_color1.44581876
34MP0004043_abnormal_pH_regulation1.43755937
35MP0005075_abnormal_melanosome_morpholog1.42073846
36MP0000383_abnormal_hair_follicle1.41984525
37MP0003806_abnormal_nucleotide_metabolis1.41826743
38MP0006276_abnormal_autonomic_nervous1.41655723
39MP0000015_abnormal_ear_pigmentation1.36616650
40MP0002160_abnormal_reproductive_system1.33536578
41MP0002064_seizures1.33232947
42MP0008872_abnormal_physiological_respon1.31605716
43MP0008058_abnormal_DNA_repair1.29275026
44MP0005647_abnormal_sex_gland1.29274395
45MP0010386_abnormal_urinary_bladder1.29105350
46MP0004133_heterotaxia1.20862711
47MP0002095_abnormal_skin_pigmentation1.20021805
48MP0001485_abnormal_pinna_reflex1.14709064
49MP0003698_abnormal_male_reproductive1.13106894
50MP0006292_abnormal_olfactory_placode1.12963116
51MP0002928_abnormal_bile_duct1.12045936
52MP0003950_abnormal_plasma_membrane1.11475596
53MP0002733_abnormal_thermal_nociception1.11461856
54MP0005645_abnormal_hypothalamus_physiol1.10188397
55MP0002210_abnormal_sex_determination1.09989544
56MP0004142_abnormal_muscle_tone1.06302996
57MP0004924_abnormal_behavior1.05378115
58MP0005386_behavior/neurological_phenoty1.05378115
59MP0004145_abnormal_muscle_electrophysio1.04654966
60MP0005389_reproductive_system_phenotype1.04611486
61MP0002234_abnormal_pharynx_morphology1.04171303
62MP0000631_abnormal_neuroendocrine_gland1.04017425
63MP0000653_abnormal_sex_gland1.02657284
64MP0001929_abnormal_gametogenesis1.01608350
65MP0005085_abnormal_gallbladder_physiolo1.00527956
66MP0002067_abnormal_sensory_capabilities1.00356175
67MP0006035_abnormal_mitochondrial_morpho0.97576624
68MP0002572_abnormal_emotion/affect_behav0.97294248
69MP0001324_abnormal_eye_pigmentation0.96978685
70MP0001764_abnormal_homeostasis0.96677804
71MP0002138_abnormal_hepatobiliary_system0.95738767
72MP0008995_early_reproductive_senescence0.95573717
73MP0006036_abnormal_mitochondrial_physio0.94201731
74MP0001970_abnormal_pain_threshold0.92979645
75MP0001145_abnormal_male_reproductive0.92529992
76MP0001529_abnormal_vocalization0.92044377
77MP0002163_abnormal_gland_morphology0.91935046
78MP0002229_neurodegeneration0.89613173
79MP0004215_abnormal_myocardial_fiber0.89534863
80MP0002735_abnormal_chemical_nociception0.89526517
81MP0008875_abnormal_xenobiotic_pharmacok0.89234962
82MP0002693_abnormal_pancreas_physiology0.87390663
83MP0003137_abnormal_impulse_conducting0.87305781
84MP0005084_abnormal_gallbladder_morpholo0.85256637
85MP0008057_abnormal_DNA_replication0.82465731
86MP0003635_abnormal_synaptic_transmissio0.79601258
87MP0005083_abnormal_biliary_tract0.79311919
88MP0002075_abnormal_coat/hair_pigmentati0.75734818
89MP0001664_abnormal_digestion0.75308138
90MP0005195_abnormal_posterior_eye0.75056621
91MP0005334_abnormal_fat_pad0.74868513
92MP0003186_abnormal_redox_activity0.74786143
93MP0002653_abnormal_ependyma_morphology0.74579864
94MP0005636_abnormal_mineral_homeostasis0.74477905
95MP0005377_hearing/vestibular/ear_phenot0.72015158
96MP0003878_abnormal_ear_physiology0.72015158
97MP0000026_abnormal_inner_ear0.72008888
98MP0005395_other_phenotype0.70915351
99MP0004381_abnormal_hair_follicle0.70857723
100MP0005391_vision/eye_phenotype0.70671265

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)6.03394104
2Progressive cerebellar ataxia (HP:0002073)5.08692367
3Gaze-evoked nystagmus (HP:0000640)4.52573716
4Action tremor (HP:0002345)4.46159650
5Pancreatic cysts (HP:0001737)4.29913004
6Pendular nystagmus (HP:0012043)4.22999332
7Dysmetric saccades (HP:0000641)4.22822352
8Pancreatic fibrosis (HP:0100732)3.78779084
9Absence seizures (HP:0002121)3.69237824
10True hermaphroditism (HP:0010459)3.66695248
11Prostate neoplasm (HP:0100787)3.57071415
12Abnormality of midbrain morphology (HP:0002418)3.35514736
13Molar tooth sign on MRI (HP:0002419)3.35514736
14Dialeptic seizures (HP:0011146)3.28714369
15Focal seizures (HP:0007359)3.23099581
16Congenital stationary night blindness (HP:0007642)3.21998213
17Nephronophthisis (HP:0000090)3.18548818
18Keratoconus (HP:0000563)2.99573794
19Increased corneal curvature (HP:0100692)2.99573794
20Protruding tongue (HP:0010808)2.96974789
21Abnormality of the renal cortex (HP:0011035)2.96262643
22Attenuation of retinal blood vessels (HP:0007843)2.94104217
23Abnormality of the hepatic vasculature (HP:0006707)2.94047993
24Abnormality of macular pigmentation (HP:0008002)2.89362227
25Hyperventilation (HP:0002883)2.88209807
26Focal motor seizures (HP:0011153)2.86695889
27Abolished electroretinogram (ERG) (HP:0000550)2.84861315
28Dynein arm defect of respiratory motile cilia (HP:0012255)2.81003501
29Absent/shortened dynein arms (HP:0200106)2.81003501
30Severe visual impairment (HP:0001141)2.80312501
31Abnormal respiratory motile cilium morphology (HP:0005938)2.78432241
32Abnormal respiratory epithelium morphology (HP:0012253)2.78432241
33Urinary bladder sphincter dysfunction (HP:0002839)2.77364143
34Abnormal ciliary motility (HP:0012262)2.77326578
35Abnormality of the renal medulla (HP:0100957)2.73291923
36Chronic hepatic failure (HP:0100626)2.70010935
37Cystic liver disease (HP:0006706)2.66052596
38Abnormal respiratory motile cilium physiology (HP:0012261)2.62992902
39Congenital sensorineural hearing impairment (HP:0008527)2.59474751
40Sclerocornea (HP:0000647)2.51728267
41Clumsiness (HP:0002312)2.49877358
42Type II lissencephaly (HP:0007260)2.44593239
43Postural instability (HP:0002172)2.43978068
44Impaired smooth pursuit (HP:0007772)2.43661467
45Fair hair (HP:0002286)2.42315673
46Febrile seizures (HP:0002373)2.40760121
47Decreased central vision (HP:0007663)2.37984254
48Bony spicule pigmentary retinopathy (HP:0007737)2.33076483
49Chorioretinal atrophy (HP:0000533)2.31982104
50Atonic seizures (HP:0010819)2.31378060
51Rib fusion (HP:0000902)2.23245661
52Impaired vibratory sensation (HP:0002495)2.21747468
53Oculomotor apraxia (HP:0000657)2.21102629
54Dysdiadochokinesis (HP:0002075)2.19451319
55Tubular atrophy (HP:0000092)2.19167690
56Renal cortical cysts (HP:0000803)2.18715891
57Abnormality of alanine metabolism (HP:0010916)2.17378979
58Hyperalaninemia (HP:0003348)2.17378979
59Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.17378979
60Aplasia/Hypoplasia of the fovea (HP:0008060)2.16792271
61Hypoplasia of the fovea (HP:0007750)2.16792271
62Inability to walk (HP:0002540)2.16761392
63Decreased electroretinogram (ERG) amplitude (HP:0000654)2.16012232
64Postural tremor (HP:0002174)2.15522619
65Male pseudohermaphroditism (HP:0000037)2.14722158
66Concave nail (HP:0001598)2.14420164
67Aplasia/Hypoplasia of the tongue (HP:0010295)2.10610529
68Limb ataxia (HP:0002070)2.09866952
69Medial flaring of the eyebrow (HP:0010747)2.08958072
70Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.08201815
71Retinitis pigmentosa (HP:0000510)2.06479831
72Abnormal biliary tract physiology (HP:0012439)2.05279594
73Bile duct proliferation (HP:0001408)2.05279594
74Bilateral microphthalmos (HP:0007633)2.03010055
75Furrowed tongue (HP:0000221)1.97884378
76Broad-based gait (HP:0002136)1.95713548
77Abnormality of the fovea (HP:0000493)1.92467661
78Small hand (HP:0200055)1.91339392
79Increased CSF lactate (HP:0002490)1.90473281
80Abnormality of the prostate (HP:0008775)1.89524450
81Congenital hepatic fibrosis (HP:0002612)1.89022714
82Acute necrotizing encephalopathy (HP:0006965)1.88983434
83Congenital, generalized hypertrichosis (HP:0004540)1.88776609
84Absent speech (HP:0001344)1.88624234
85Hypochromic microcytic anemia (HP:0004840)1.87282330
86Generalized hypopigmentation of hair (HP:0011358)1.84481939
87Retinal dysplasia (HP:0007973)1.84423473
88Postaxial foot polydactyly (HP:0001830)1.82337340
89Abnormal drinking behavior (HP:0030082)1.81574362
90Polydipsia (HP:0001959)1.81574362
91Mitochondrial inheritance (HP:0001427)1.81393032
92Anencephaly (HP:0002323)1.80135881
93Hemiparesis (HP:0001269)1.79915198
94Aplasia/Hypoplasia of the tibia (HP:0005772)1.79422271
95Abnormality of ocular smooth pursuit (HP:0000617)1.78623110
96Abnormal protein glycosylation (HP:0012346)1.78098719
97Abnormal glycosylation (HP:0012345)1.78098719
98Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.78098719
99Abnormal protein N-linked glycosylation (HP:0012347)1.78098719
100Acute encephalopathy (HP:0006846)1.77906568

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.22148130
2CDK195.80623688
3OXSR13.47533984
4BMPR1B3.07774319
5PINK13.01770261
6ZAK2.74867422
7ADRBK22.54242937
8GRK12.42812543
9ACVR1B2.27081564
10INSRR2.27062253
11TXK2.15616349
12MAP4K22.04248319
13TAOK32.01886366
14NUAK11.84686405
15WNK31.78838183
16CASK1.76515126
17WNK41.75523724
18MAPK131.35354553
19TNK21.33904110
20MAP3K71.30095525
21MKNK21.27068913
22STK31.08764418
23MUSK1.04437869
24PLK41.02533596
25ADRBK11.01548255
26STK38L0.99927165
27TLK10.98744058
28PNCK0.97822092
29MAP3K40.95352586
30TGFBR10.92086186
31MARK30.88811571
32DAPK20.87368967
33NTRK30.86193586
34SIK20.84817379
35TIE10.81724779
36STK390.80528340
37MAPKAPK50.79773221
38PTK2B0.78360423
39WEE10.73318310
40PRKCG0.72928101
41BCR0.71050914
42CHEK20.68168047
43PRKCE0.67636359
44MARK10.66662642
45PIK3CG0.65387076
46TEC0.64879125
47CCNB10.63556008
48FER0.63331781
49NEK20.60877647
50PLK20.60370511
51MKNK10.59014073
52BRSK20.54253450
53VRK10.54057257
54GRK70.52569643
55DYRK20.51777241
56ATR0.51394592
57MAPK150.48172023
58MAP2K60.46912596
59MST40.46212564
60ALK0.45632776
61PDK20.45327094
62NME10.44126164
63PAK30.44065713
64RPS6KB20.43404533
65CAMK2A0.42322386
66MAPKAPK30.40397772
67PRKACA0.40088134
68STK380.40074204
69CSNK1G20.39343750
70PKN10.38422567
71PHKG20.38401525
72PHKG10.38401525
73TRIM280.38348991
74OBSCN0.38235692
75LATS10.37535700
76NTRK20.36856084
77RPS6KA50.36811664
78CSNK1G10.36415392
79PRKG10.35613281
80CSNK1G30.35262935
81PLK10.35001456
82STK110.34941170
83MATK0.34351538
84KIT0.34309561
85MAP2K10.33847121
86PRKCQ0.33732707
87CDK30.33470474
88TNIK0.33080740
89EIF2AK30.32392608
90GRK50.31930068
91VRK20.30257611
92CSNK1A1L0.30217074
93PLK30.30172592
94CDK80.30031323
95BCKDK0.29864148
96ATM0.29339944
97PRKAA20.28217883
98MAP2K70.27858586
99CSNK1A10.27724391
100PIK3CA0.27607520

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.11513465
2Butanoate metabolism_Homo sapiens_hsa006502.68440250
3Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.50003599
4Phototransduction_Homo sapiens_hsa047442.48973981
5RNA polymerase_Homo sapiens_hsa030202.44031308
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.41315164
7Olfactory transduction_Homo sapiens_hsa047402.19037812
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.14407736
9Linoleic acid metabolism_Homo sapiens_hsa005912.14175202
10Tryptophan metabolism_Homo sapiens_hsa003802.12044980
11Homologous recombination_Homo sapiens_hsa034402.10948109
12Nitrogen metabolism_Homo sapiens_hsa009102.07801171
13Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.00548579
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.99961526
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.92748817
16Selenocompound metabolism_Homo sapiens_hsa004501.90482090
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.88459294
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.83349849
19Nicotine addiction_Homo sapiens_hsa050331.80850739
20Ether lipid metabolism_Homo sapiens_hsa005651.77811693
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.72962183
22Caffeine metabolism_Homo sapiens_hsa002321.71849349
23Fanconi anemia pathway_Homo sapiens_hsa034601.71698400
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.68503310
25Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.64830633
26Taste transduction_Homo sapiens_hsa047421.63234720
27Retinol metabolism_Homo sapiens_hsa008301.61195794
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.57893703
29ABC transporters_Homo sapiens_hsa020101.52299418
30Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.41624292
31Propanoate metabolism_Homo sapiens_hsa006401.40590885
32Oxidative phosphorylation_Homo sapiens_hsa001901.37630761
33Chemical carcinogenesis_Homo sapiens_hsa052041.34905528
34Morphine addiction_Homo sapiens_hsa050321.21153076
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16223758
36Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.15064026
37Basal transcription factors_Homo sapiens_hsa030221.12403163
38Fatty acid biosynthesis_Homo sapiens_hsa000611.11848144
39One carbon pool by folate_Homo sapiens_hsa006701.09498138
40Purine metabolism_Homo sapiens_hsa002301.09185205
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.07643310
42Parkinsons disease_Homo sapiens_hsa050121.07064991
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.04887433
44Peroxisome_Homo sapiens_hsa041461.02959288
45Non-homologous end-joining_Homo sapiens_hsa034500.96888743
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.96553918
47Pyrimidine metabolism_Homo sapiens_hsa002400.94537396
48Pentose and glucuronate interconversions_Homo sapiens_hsa000400.94421371
49beta-Alanine metabolism_Homo sapiens_hsa004100.92698530
50Arachidonic acid metabolism_Homo sapiens_hsa005900.88378005
51GABAergic synapse_Homo sapiens_hsa047270.86640368
52Ovarian steroidogenesis_Homo sapiens_hsa049130.84211031
53Salivary secretion_Homo sapiens_hsa049700.83359303
54Glutamatergic synapse_Homo sapiens_hsa047240.83301058
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.82240264
56Serotonergic synapse_Homo sapiens_hsa047260.79206114
57Huntingtons disease_Homo sapiens_hsa050160.78573875
58Calcium signaling pathway_Homo sapiens_hsa040200.77033132
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.76888654
60RNA degradation_Homo sapiens_hsa030180.75692634
61Circadian entrainment_Homo sapiens_hsa047130.75443166
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.74373511
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.73964318
64Protein export_Homo sapiens_hsa030600.71052427
65Fatty acid degradation_Homo sapiens_hsa000710.70484315
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.70152892
67Metabolic pathways_Homo sapiens_hsa011000.68604754
68Fatty acid metabolism_Homo sapiens_hsa012120.68483976
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.66831046
70Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.66420084
71Glycerolipid metabolism_Homo sapiens_hsa005610.66182769
72Intestinal immune network for IgA production_Homo sapiens_hsa046720.65564687
73Alzheimers disease_Homo sapiens_hsa050100.63761103
74Fat digestion and absorption_Homo sapiens_hsa049750.60004073
75Histidine metabolism_Homo sapiens_hsa003400.55651980
76Cardiac muscle contraction_Homo sapiens_hsa042600.54876569
77Glutathione metabolism_Homo sapiens_hsa004800.54810435
78Insulin secretion_Homo sapiens_hsa049110.53987610
79Pyruvate metabolism_Homo sapiens_hsa006200.53703174
80N-Glycan biosynthesis_Homo sapiens_hsa005100.51974832
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48026080
82Gastric acid secretion_Homo sapiens_hsa049710.46479148
83PPAR signaling pathway_Homo sapiens_hsa033200.45084526
84Collecting duct acid secretion_Homo sapiens_hsa049660.44691338
85Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.43452550
86Vascular smooth muscle contraction_Homo sapiens_hsa042700.42391458
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.41102492
88Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40163638
89Circadian rhythm_Homo sapiens_hsa047100.40096831
90Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39335913
91Nucleotide excision repair_Homo sapiens_hsa034200.37713666
92Mineral absorption_Homo sapiens_hsa049780.35118152
93Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.32904285
94Tyrosine metabolism_Homo sapiens_hsa003500.28908288
95Sphingolipid metabolism_Homo sapiens_hsa006000.28717615
96cAMP signaling pathway_Homo sapiens_hsa040240.27801747
97Vitamin digestion and absorption_Homo sapiens_hsa049770.27121157
98Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.25457605
99Regulation of autophagy_Homo sapiens_hsa041400.24470756
100Asthma_Homo sapiens_hsa053100.23987237

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