HMGB1P21

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
1detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)5.86451355
2regulation of meiosis I (GO:0060631)5.02474762
3adaptation of signaling pathway (GO:0023058)4.87592115
4tongue development (GO:0043586)4.46225374
5embryonic camera-type eye development (GO:0031076)4.37549347
6platelet dense granule organization (GO:0060155)4.15958997
7replication fork processing (GO:0031297)4.08377298
8proteasome assembly (GO:0043248)4.06378839
9kinetochore assembly (GO:0051382)4.04553403
10DNA strand renaturation (GO:0000733)3.92454665
11synaptic transmission, cholinergic (GO:0007271)3.67782601
12regulation of sarcomere organization (GO:0060297)3.61339398
13resolution of meiotic recombination intermediates (GO:0000712)3.55164568
14kinetochore organization (GO:0051383)3.52059904
15positive regulation of protein depolymerization (GO:1901881)3.46211280
16chaperone-mediated protein transport (GO:0072321)3.41510813
17negative regulation of meiosis (GO:0045835)3.30966481
18detection of mechanical stimulus involved in sensory perception (GO:0050974)3.30618435
19positive regulation of chemokine secretion (GO:0090197)3.26678042
20negative regulation of DNA-dependent DNA replication (GO:2000104)3.24424316
21chromatin remodeling at centromere (GO:0031055)3.22120981
22cartilage morphogenesis (GO:0060536)3.17553556
23prenylation (GO:0097354)3.14931218
24protein prenylation (GO:0018342)3.14931218
25cullin deneddylation (GO:0010388)3.14524614
26positive regulation of macrophage activation (GO:0043032)3.13920861
27male meiosis I (GO:0007141)3.13363648
28negative regulation of macrophage differentiation (GO:0045650)3.09383794
29CENP-A containing nucleosome assembly (GO:0034080)3.08882529
30response to pheromone (GO:0019236)3.06201204
31establishment of protein localization to mitochondrial membrane (GO:0090151)3.02654817
32regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.94475927
33regulation of mitotic spindle checkpoint (GO:1903504)2.94475927
34positive regulation of meiosis (GO:0045836)2.92725441
35neuron fate determination (GO:0048664)2.82963579
36regulation of nuclear cell cycle DNA replication (GO:0033262)2.82854173
37attachment of spindle microtubules to kinetochore (GO:0008608)2.82738278
38recombinational repair (GO:0000725)2.82649229
39intraciliary transport (GO:0042073)2.81776774
40protein localization to kinetochore (GO:0034501)2.81766128
41histone exchange (GO:0043486)2.81447842
42epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.81319602
43double-strand break repair via homologous recombination (GO:0000724)2.80881859
44anterograde synaptic vesicle transport (GO:0048490)2.80414139
45DNA integration (GO:0015074)2.79378075
46regulation of DNA endoreduplication (GO:0032875)2.78273647
47amine catabolic process (GO:0009310)2.76196245
48cellular biogenic amine catabolic process (GO:0042402)2.76196245
49regulation of cilium movement (GO:0003352)2.73058007
50behavioral response to nicotine (GO:0035095)2.71420105
51positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.71347894
52positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.71347894
53positive regulation of mitotic sister chromatid separation (GO:1901970)2.71347894
54mitochondrial respiratory chain complex assembly (GO:0033108)2.71089837
55protein complex biogenesis (GO:0070271)2.70527245
56protein deneddylation (GO:0000338)2.70288618
57maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.69767177
58eosinophil chemotaxis (GO:0048245)2.69757097
59mitotic metaphase plate congression (GO:0007080)2.68935329
60positive regulation of meiotic cell cycle (GO:0051446)2.68462950
61metaphase plate congression (GO:0051310)2.67218061
62respiratory chain complex IV assembly (GO:0008535)2.65913014
63regulation of cellular respiration (GO:0043457)2.65600843
64regulation of gonadotropin secretion (GO:0032276)2.65058847
65exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.63109397
66rRNA modification (GO:0000154)2.62113639
67detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.61030734
68regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.59277987
69multicellular organism reproduction (GO:0032504)2.58595074
70nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.58469556
71microtubule anchoring (GO:0034453)2.57882572
72rRNA methylation (GO:0031167)2.57703567
73positive regulation of protein complex disassembly (GO:0043243)2.56986107
74regulation of chemokine secretion (GO:0090196)2.55434617
75negative regulation of mast cell activation (GO:0033004)2.55254551
76regulation of gene silencing by miRNA (GO:0060964)2.54891769
77regulation of gene silencing by RNA (GO:0060966)2.54891769
78regulation of posttranscriptional gene silencing (GO:0060147)2.54891769
79reciprocal DNA recombination (GO:0035825)2.54654226
80reciprocal meiotic recombination (GO:0007131)2.54654226
81ovulation cycle (GO:0042698)2.53613140
82protein localization to cilium (GO:0061512)2.53585542
83vascular smooth muscle contraction (GO:0014829)2.53411196
84DNA-dependent DNA replication (GO:0006261)2.53197187
85cytochrome complex assembly (GO:0017004)2.51855032
86piRNA metabolic process (GO:0034587)2.51414059
87epithelial cilium movement (GO:0003351)2.50096578
88water-soluble vitamin biosynthetic process (GO:0042364)2.48787856
89meiosis I (GO:0007127)2.47477517
90telomere maintenance via telomerase (GO:0007004)2.46717376
91peptidyl-histidine modification (GO:0018202)2.45069845
92protein localization to chromosome, centromeric region (GO:0071459)2.45048038
93kidney morphogenesis (GO:0060993)2.44166429
94mitochondrial respiratory chain complex I assembly (GO:0032981)2.42469213
95NADH dehydrogenase complex assembly (GO:0010257)2.42469213
96mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.42469213
97transmission of nerve impulse (GO:0019226)2.41929771
98behavioral response to ethanol (GO:0048149)2.41804003
99anterior/posterior axis specification, embryo (GO:0008595)2.41413499
100transcription elongation from RNA polymerase III promoter (GO:0006385)2.38581664

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.09624572
2VDR_22108803_ChIP-Seq_LS180_Human3.08703056
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.83400769
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.79611258
5ZNF274_21170338_ChIP-Seq_K562_Hela2.78473543
6GABP_17652178_ChIP-ChIP_JURKAT_Human2.77472756
7RBPJ_22232070_ChIP-Seq_NCS_Mouse2.71746848
8SALL1_21062744_ChIP-ChIP_HESCs_Human2.53237474
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.49327537
10ELK1_19687146_ChIP-ChIP_HELA_Human2.35530778
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30710563
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.11213206
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.08630108
14FUS_26573619_Chip-Seq_HEK293_Human2.08163725
15P300_19829295_ChIP-Seq_ESCs_Human2.07019080
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02541612
17POU3F2_20337985_ChIP-ChIP_501MEL_Human2.02243071
18EST1_17652178_ChIP-ChIP_JURKAT_Human2.01637617
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.95922919
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.93087081
21IGF1R_20145208_ChIP-Seq_DFB_Human1.92785746
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.91024468
23EWS_26573619_Chip-Seq_HEK293_Human1.88677818
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86585747
25BCAT_22108803_ChIP-Seq_LS180_Human1.81025683
26GBX2_23144817_ChIP-Seq_PC3_Human1.80988571
27PCGF2_27294783_Chip-Seq_ESCs_Mouse1.72894529
28BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.72873645
29AR_21572438_ChIP-Seq_LNCaP_Human1.66813627
30AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.60677243
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.55596309
32SMAD4_21799915_ChIP-Seq_A2780_Human1.49128432
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.48383939
34E2F4_17652178_ChIP-ChIP_JURKAT_Human1.45806842
35SMAD3_21741376_ChIP-Seq_EPCs_Human1.44043988
36TCF4_22108803_ChIP-Seq_LS180_Human1.43069464
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.42572314
38ER_23166858_ChIP-Seq_MCF-7_Human1.41164897
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.40754512
40GATA1_26923725_Chip-Seq_HPCs_Mouse1.40051547
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39982876
42KLF5_20875108_ChIP-Seq_MESCs_Mouse1.38263516
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38201423
44OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35359334
45STAT3_23295773_ChIP-Seq_U87_Human1.35063184
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35052790
47CREB1_15753290_ChIP-ChIP_HEK293T_Human1.34631582
48CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32459797
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.31225351
50CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.29830668
51MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.29736272
52EZH2_27294783_Chip-Seq_NPCs_Mouse1.28710645
53SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27804921
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.27781725
55CBP_20019798_ChIP-Seq_JUKART_Human1.27064824
56IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27064824
57CJUN_26792858_Chip-Seq_BT549_Human1.26362872
58SUZ12_27294783_Chip-Seq_NPCs_Mouse1.26324933
59MYC_18940864_ChIP-ChIP_HL60_Human1.25129228
60GATA1_22025678_ChIP-Seq_K562_Human1.24952989
61TAF15_26573619_Chip-Seq_HEK293_Human1.24578727
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.23525564
63TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23525564
64ELF1_17652178_ChIP-ChIP_JURKAT_Human1.22656036
65AR_25329375_ChIP-Seq_VCAP_Human1.21114256
66HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.20005814
67PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19146021
68BRD4_25478319_ChIP-Seq_HGPS_Human1.18852725
69NFE2_27457419_Chip-Seq_LIVER_Mouse1.18171732
70TCF4_23295773_ChIP-Seq_U87_Human1.17584751
71SOX2_19829295_ChIP-Seq_ESCs_Human1.15992835
72NANOG_19829295_ChIP-Seq_ESCs_Human1.15992835
73TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15486882
74CRX_20693478_ChIP-Seq_RETINA_Mouse1.14945582
75NOTCH1_21737748_ChIP-Seq_TLL_Human1.13442553
76JUN_21703547_ChIP-Seq_K562_Human1.12585782
77CDX2_22108803_ChIP-Seq_LS180_Human1.12322455
78RUNX2_22187159_ChIP-Seq_PCA_Human1.11012373
79KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.10789035
80KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.10789035
81KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.10789035
82SMAD4_21741376_ChIP-Seq_EPCs_Human1.09753471
83TP53_22573176_ChIP-Seq_HFKS_Human1.08627320
84POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08333196
85FOXM1_23109430_ChIP-Seq_U2OS_Human1.08331210
86ELK1_22589737_ChIP-Seq_MCF10A_Human1.07568462
87LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07167315
88TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06932716
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06867377
90SRF_21415370_ChIP-Seq_HL-1_Mouse1.06256555
91NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06137012
92FOXM1_26456572_ChIP-Seq_MCF-7_Human1.05940827
93GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04997448
94NANOG_18555785_Chip-Seq_ESCs_Mouse1.03558961
95ETS1_20019798_ChIP-Seq_JURKAT_Human1.02695988
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.01629447
97FOXA1_21572438_ChIP-Seq_LNCaP_Human1.01506109
98SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.00752205
99EGR1_23403033_ChIP-Seq_LIVER_Mouse1.00000402
100SMAD3_21741376_ChIP-Seq_HESCs_Human0.99851466

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane5.46628563
2MP0003136_yellow_coat_color4.10513672
3MP0002254_reproductive_system_inflammat4.09331740
4MP0006292_abnormal_olfactory_placode3.83879709
5MP0000372_irregular_coat_pigmentation3.81453081
6MP0005171_absent_coat_pigmentation3.40115536
7MP0005174_abnormal_tail_pigmentation3.20602052
8MP0008877_abnormal_DNA_methylation2.97074179
9MP0002234_abnormal_pharynx_morphology2.64303201
10MP0009379_abnormal_foot_pigmentation2.57663721
11MP0005670_abnormal_white_adipose2.56385913
12MP0003890_abnormal_embryonic-extraembry2.27557816
13MP0001293_anophthalmia2.10226724
14MP0002876_abnormal_thyroid_physiology2.03931910
15MP0000569_abnormal_digit_pigmentation2.01281911
16MP0000749_muscle_degeneration1.96965155
17MP0008058_abnormal_DNA_repair1.96319960
18MP0005551_abnormal_eye_electrophysiolog1.91617987
19MP0005187_abnormal_penis_morphology1.86186220
20MP0010030_abnormal_orbit_morphology1.77827026
21MP0002233_abnormal_nose_morphology1.77790290
22MP0008789_abnormal_olfactory_epithelium1.76386131
23MP0003755_abnormal_palate_morphology1.73688750
24MP0003195_calcinosis1.73209095
25MP0001299_abnormal_eye_distance/1.66775160
26MP0000427_abnormal_hair_cycle1.61002584
27MP0002295_abnormal_pulmonary_circulatio1.55235565
28MP0008872_abnormal_physiological_respon1.54359461
29MP0004145_abnormal_muscle_electrophysio1.48907572
30MP0002736_abnormal_nociception_after1.46326002
31MP0004133_heterotaxia1.44339558
32MP0002938_white_spotting1.41906797
33MP0000015_abnormal_ear_pigmentation1.40226605
34MP0001324_abnormal_eye_pigmentation1.38511303
35MP0004215_abnormal_myocardial_fiber1.37530383
36MP0002282_abnormal_trachea_morphology1.36815279
37MP0003718_maternal_effect1.35729023
38MP0003011_delayed_dark_adaptation1.33310676
39MP0003646_muscle_fatigue1.29819879
40MP0005408_hypopigmentation1.24552302
41MP0001346_abnormal_lacrimal_gland1.19961913
42MP0001485_abnormal_pinna_reflex1.15861161
43MP0002102_abnormal_ear_morphology1.14834662
44MP0003315_abnormal_perineum_morphology1.12128868
45MP0000613_abnormal_salivary_gland1.11447567
46MP0000647_abnormal_sebaceous_gland1.11052024
47MP0002095_abnormal_skin_pigmentation1.10798573
48MP0010094_abnormal_chromosome_stability1.10700735
49MP0005253_abnormal_eye_physiology1.09212168
50MP0001968_abnormal_touch/_nociception1.07093632
51MP0003186_abnormal_redox_activity1.07029659
52MP0003936_abnormal_reproductive_system1.06069353
53MP0003879_abnormal_hair_cell1.00825840
54MP0008775_abnormal_heart_ventricle0.99835383
55MP0003937_abnormal_limbs/digits/tail_de0.98072598
56MP0004233_abnormal_muscle_weight0.97665275
57MP0001986_abnormal_taste_sensitivity0.95235252
58MP0005275_abnormal_skin_tensile0.94012420
59MP0008438_abnormal_cutaneous_collagen0.93243325
60MP0005197_abnormal_uvea_morphology0.92757468
61MP0000762_abnormal_tongue_morphology0.92690892
62MP0002837_dystrophic_cardiac_calcinosis0.91851804
63MP0001119_abnormal_female_reproductive0.91609988
64MP0005195_abnormal_posterior_eye0.91076974
65MP0005394_taste/olfaction_phenotype0.89541680
66MP0005499_abnormal_olfactory_system0.89541680
67MP0010368_abnormal_lymphatic_system0.87718600
68MP0002210_abnormal_sex_determination0.84680203
69MP0002163_abnormal_gland_morphology0.84330201
70MP0005391_vision/eye_phenotype0.83328257
71MP0003935_abnormal_craniofacial_develop0.83016734
72MP0006072_abnormal_retinal_apoptosis0.81604905
73MP0005503_abnormal_tendon_morphology0.81084831
74MP0001286_abnormal_eye_development0.80845481
75MP0009250_abnormal_appendicular_skeleto0.80804664
76MP0002751_abnormal_autonomic_nervous0.79154863
77MP0002184_abnormal_innervation0.73465489
78MP0005377_hearing/vestibular/ear_phenot0.73333320
79MP0003878_abnormal_ear_physiology0.73333320
80MP0001929_abnormal_gametogenesis0.71183612
81MP0002638_abnormal_pupillary_reflex0.70327404
82MP0003693_abnormal_embryo_hatching0.70247320
83MP0005395_other_phenotype0.67326952
84MP0005084_abnormal_gallbladder_morpholo0.67203409
85MP0000653_abnormal_sex_gland0.66883617
86MP0000163_abnormal_cartilage_morphology0.66295261
87MP0004084_abnormal_cardiac_muscle0.65293641
88MP0000631_abnormal_neuroendocrine_gland0.64554187
89MP0003787_abnormal_imprinting0.64153701
90MP0000432_abnormal_head_morphology0.62193824
91MP0006036_abnormal_mitochondrial_physio0.61857636
92MP0006054_spinal_hemorrhage0.61438772
93MP0000383_abnormal_hair_follicle0.61435137
94MP0002090_abnormal_vision0.61357674
95MP0004019_abnormal_vitamin_homeostasis0.60798202
96MP0003786_premature_aging0.60716869
97MP0004264_abnormal_extraembryonic_tissu0.59359937
98MP0002752_abnormal_somatic_nervous0.58786053
99MP0003942_abnormal_urinary_system0.58665502
100MP0000026_abnormal_inner_ear0.57594016

Predicted human phenotypes

RankGene SetZ-score
1Asplenia (HP:0001746)3.71232592
2Aplasia/Hypoplasia of the spleen (HP:0010451)3.58697256
3Molar tooth sign on MRI (HP:0002419)3.36051290
4Abnormality of midbrain morphology (HP:0002418)3.36051290
5Pancreatic cysts (HP:0001737)2.94007204
6Hypomagnesemia (HP:0002917)2.89940195
7Facial cleft (HP:0002006)2.88461319
8Abnormal lung lobation (HP:0002101)2.74855091
9Chronic hepatic failure (HP:0100626)2.74390542
10Bifid tongue (HP:0010297)2.73043365
11Pancreatic fibrosis (HP:0100732)2.70561828
12Polydipsia (HP:0001959)2.68055185
13Abnormal drinking behavior (HP:0030082)2.68055185
14Septo-optic dysplasia (HP:0100842)2.67008623
15Follicular hyperkeratosis (HP:0007502)2.66309273
16Intestinal atresia (HP:0011100)2.57601546
17Tubular atrophy (HP:0000092)2.56873414
18Abnormality of magnesium homeostasis (HP:0004921)2.50450028
19Retinal atrophy (HP:0001105)2.47705362
20Bilateral sensorineural hearing impairment (HP:0008619)2.46346594
21True hermaphroditism (HP:0010459)2.40703339
22Acute necrotizing encephalopathy (HP:0006965)2.38574397
23Supernumerary spleens (HP:0009799)2.35380628
24Aplasia/Hypoplasia of the tongue (HP:0010295)2.34285840
25Nephronophthisis (HP:0000090)2.32487398
26Abnormality of dental color (HP:0011073)2.32163956
27Abdominal situs inversus (HP:0003363)2.30322346
28Abnormality of abdominal situs (HP:0011620)2.30322346
29Abnormality of the renal medulla (HP:0100957)2.29367803
30Aplasia/Hypoplasia of the uvula (HP:0010293)2.28303427
31Abnormality of chromosome stability (HP:0003220)2.27527571
32Oligodactyly (hands) (HP:0001180)2.26486444
33Abnormality of the fovea (HP:0000493)2.25480951
34Decreased muscle mass (HP:0003199)2.24879018
35Amelogenesis imperfecta (HP:0000705)2.24778157
36Meckel diverticulum (HP:0002245)2.23798010
37Hypokalemic alkalosis (HP:0001949)2.23676810
38Anencephaly (HP:0002323)2.22104580
39Colon cancer (HP:0003003)2.20429033
40Increased circulating renin level (HP:0000848)2.19622309
41Patent foramen ovale (HP:0001655)2.15649539
42Abnormality of the ileum (HP:0001549)2.15255130
43Abnormality of the pons (HP:0007361)2.14592288
44Polyuria (HP:0000103)2.13963286
45Progressive macrocephaly (HP:0004481)2.13581710
46Sloping forehead (HP:0000340)2.13332260
47Rhabdomyosarcoma (HP:0002859)2.12354734
48Optic disc pallor (HP:0000543)2.12023494
49Anophthalmia (HP:0000528)2.09346219
50Tetany (HP:0001281)2.09069247
51Aplasia/Hypoplasia of the fovea (HP:0008060)2.08994380
52Hypoplasia of the fovea (HP:0007750)2.08994380
53Bilateral microphthalmos (HP:0007633)2.07009298
54Chromsome breakage (HP:0040012)2.06369162
55Decreased electroretinogram (ERG) amplitude (HP:0000654)2.06063632
56Type II lissencephaly (HP:0007260)2.03688396
57Acute encephalopathy (HP:0006846)2.02498005
58Postaxial foot polydactyly (HP:0001830)2.00952134
59Volvulus (HP:0002580)1.99312485
60Increased CSF lactate (HP:0002490)1.96766485
61Congenital sensorineural hearing impairment (HP:0008527)1.94623913
62Ectopic kidney (HP:0000086)1.94174622
63Optic nerve hypoplasia (HP:0000609)1.93501485
64Enlarged kidneys (HP:0000105)1.91890791
65Median cleft lip (HP:0000161)1.91804395
66Abnormality of the renal cortex (HP:0011035)1.91315630
67Abnormal ciliary motility (HP:0012262)1.87414878
68Small intestinal stenosis (HP:0012848)1.87149543
69Duodenal stenosis (HP:0100867)1.87149543
70Microretrognathia (HP:0000308)1.85609647
71Rectal fistula (HP:0100590)1.85576301
72Rectovaginal fistula (HP:0000143)1.85576301
73Absent septum pellucidum (HP:0001331)1.84571503
74Abnormal mitochondria in muscle tissue (HP:0008316)1.84478559
75Dandy-Walker malformation (HP:0001305)1.83197709
76Fair hair (HP:0002286)1.83124462
77Type 2 muscle fiber atrophy (HP:0003554)1.81685822
78Abnormality of the duodenum (HP:0002246)1.80959544
79Alopecia of scalp (HP:0002293)1.80936972
80Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.80167185
81Type I transferrin isoform profile (HP:0003642)1.77543004
82Congenital hepatic fibrosis (HP:0002612)1.76781229
83Generalized myoclonic seizures (HP:0002123)1.75160379
84Aplasia/Hypoplasia involving the musculature (HP:0001460)1.73837093
85Hypoplasia of the capital femoral epiphysis (HP:0003090)1.73094222
86Absent thumb (HP:0009777)1.72721897
87Occipital encephalocele (HP:0002085)1.70709964
88Absent eyebrow (HP:0002223)1.68290664
89Disproportionate short-trunk short stature (HP:0003521)1.68195672
90Constricted visual fields (HP:0001133)1.67948466
91Keratoconus (HP:0000563)1.67611773
92Increased corneal curvature (HP:0100692)1.67611773
93Abnormal urine output (HP:0012590)1.67263664
94Mitochondrial inheritance (HP:0001427)1.67204412
95Astigmatism (HP:0000483)1.65658570
96Triphalangeal thumb (HP:0001199)1.64075498
97Sensory axonal neuropathy (HP:0003390)1.63939129
98Abnormal protein glycosylation (HP:0012346)1.63443656
99Abnormal glycosylation (HP:0012345)1.63443656
100Abnormal protein N-linked glycosylation (HP:0012347)1.63443656

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.79608727
2WNK44.29760119
3OXSR13.73533814
4FRK3.33228054
5TNIK3.24046601
6ACVR1B2.83162994
7PDK22.55627083
8BMPR1B2.49503472
9NUAK12.41677036
10STK162.07375550
11PLK22.00328876
12PBK1.96900888
13MUSK1.88336055
14BUB11.80011702
15ZAK1.73769900
16VRK21.61003204
17MKNK21.57293055
18WNK11.47042758
19PNCK1.46511722
20MARK31.45260542
21ADRBK21.39972504
22PLK41.39238788
23WEE11.37933343
24GRK11.37643887
25PLK31.35380168
26LATS11.27846639
27TRIM281.27691521
28PINK11.26328597
29STK31.20314128
30NEK11.18727745
31STK38L1.18527385
32INSRR1.15224800
33TTK1.13935419
34EIF2AK31.07750350
35WNK31.06181050
36MAP4K21.05349138
37MST41.03861207
38CLK11.02658065
39BRSK21.02185015
40DMPK0.98219568
41MAP3K40.95754492
42TAF10.94702478
43PLK10.93463522
44MKNK10.92099939
45OBSCN0.88671608
46NEK60.86619845
47PAK30.86493549
48PRKCI0.84664183
49CDC70.84271583
50CCNB10.82167080
51TGFBR20.81165903
52CASK0.80434219
53ADRBK10.79715427
54MAP2K70.76594507
55MAPK130.75817782
56EPHB20.71320251
57EIF2AK10.70142533
58PRKCE0.69068132
59CSNK1G20.68318984
60TLK10.67389556
61MAP3K120.67099527
62AKT30.66326829
63BCR0.64388249
64VRK10.63269873
65CHEK20.58411705
66MINK10.57491662
67NME10.57438487
68BRSK10.57154329
69TSSK60.57086585
70FGFR10.56755480
71DYRK20.56304518
72STK240.55363784
73PKN10.52516559
74ABL20.50855734
75ERBB40.49385672
76PRKCG0.49227292
77PIK3CA0.48131103
78BRAF0.46349879
79TAOK30.46016114
80CSNK1G10.43964280
81FER0.43456423
82TGFBR10.43440415
83EIF2AK20.43065110
84CDK180.41532654
85TIE10.41090595
86ATM0.41046680
87ATR0.39062244
88AURKB0.38103693
89CDK150.37960054
90CDK30.37913111
91SRPK10.36313680
92CSNK1G30.35716745
93MYLK0.35564315
94CSNK2A10.33374147
95CSNK1A1L0.33343340
96CDK11A0.31861021
97PRKCQ0.31617694
98PTK2B0.30266069
99CAMK10.30235582
100NLK0.29432910

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.40455998
2Homologous recombination_Homo sapiens_hsa034403.17710073
3Protein export_Homo sapiens_hsa030603.16907452
4Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.80446311
5Oxidative phosphorylation_Homo sapiens_hsa001902.61424118
6Non-homologous end-joining_Homo sapiens_hsa034502.39315869
7RNA polymerase_Homo sapiens_hsa030202.34440989
8Basal transcription factors_Homo sapiens_hsa030222.27451585
9Fanconi anemia pathway_Homo sapiens_hsa034602.23505183
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10000793
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.07871325
12Mismatch repair_Homo sapiens_hsa034302.05121387
13Nitrogen metabolism_Homo sapiens_hsa009101.99400375
14Collecting duct acid secretion_Homo sapiens_hsa049661.86820718
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.85889972
16Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.85433201
17Parkinsons disease_Homo sapiens_hsa050121.73120452
18Propanoate metabolism_Homo sapiens_hsa006401.69014366
19Ribosome_Homo sapiens_hsa030101.67222625
20Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.60496476
21RNA degradation_Homo sapiens_hsa030181.59766747
22Phototransduction_Homo sapiens_hsa047441.58001487
23Olfactory transduction_Homo sapiens_hsa047401.56670090
24Huntingtons disease_Homo sapiens_hsa050161.56276616
25Caffeine metabolism_Homo sapiens_hsa002321.43315544
26Butanoate metabolism_Homo sapiens_hsa006501.27053741
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26581442
28Cardiac muscle contraction_Homo sapiens_hsa042601.23291880
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.21466141
30One carbon pool by folate_Homo sapiens_hsa006701.14793676
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.12587013
32Selenocompound metabolism_Homo sapiens_hsa004501.12222729
33Alzheimers disease_Homo sapiens_hsa050101.11653406
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.09926078
35RNA transport_Homo sapiens_hsa030131.09359891
36Hedgehog signaling pathway_Homo sapiens_hsa043401.08833317
37Arginine and proline metabolism_Homo sapiens_hsa003301.06471854
38Linoleic acid metabolism_Homo sapiens_hsa005911.05684072
39Nucleotide excision repair_Homo sapiens_hsa034201.04921895
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.03694396
41alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.02713696
42Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.01549544
43Pyrimidine metabolism_Homo sapiens_hsa002401.00628484
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.99974810
45TGF-beta signaling pathway_Homo sapiens_hsa043500.99853435
46Pentose and glucuronate interconversions_Homo sapiens_hsa000400.98895799
47Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.97848745
48Mineral absorption_Homo sapiens_hsa049780.94149214
49Folate biosynthesis_Homo sapiens_hsa007900.91978906
50Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90998836
51Chemical carcinogenesis_Homo sapiens_hsa052040.90968475
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.90355131
53Fat digestion and absorption_Homo sapiens_hsa049750.90170433
54Base excision repair_Homo sapiens_hsa034100.87031290
55Purine metabolism_Homo sapiens_hsa002300.85994853
56Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.85399667
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.85389325
58Fatty acid degradation_Homo sapiens_hsa000710.84655820
59Fatty acid elongation_Homo sapiens_hsa000620.83892027
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.81883045
61Fatty acid biosynthesis_Homo sapiens_hsa000610.81234971
62Hippo signaling pathway_Homo sapiens_hsa043900.81174435
63Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.80877498
64Basal cell carcinoma_Homo sapiens_hsa052170.79737660
65DNA replication_Homo sapiens_hsa030300.78789949
66Peroxisome_Homo sapiens_hsa041460.78361951
67Sphingolipid metabolism_Homo sapiens_hsa006000.78198111
68Tryptophan metabolism_Homo sapiens_hsa003800.78029956
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.77245693
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76108110
71Metabolic pathways_Homo sapiens_hsa011000.75826584
72Ether lipid metabolism_Homo sapiens_hsa005650.74957202
73Pyruvate metabolism_Homo sapiens_hsa006200.73555169
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72182860
75Glutathione metabolism_Homo sapiens_hsa004800.67644033
76Retinol metabolism_Homo sapiens_hsa008300.66564247
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66199822
78beta-Alanine metabolism_Homo sapiens_hsa004100.66135432
79Cell cycle_Homo sapiens_hsa041100.63832109
80Fatty acid metabolism_Homo sapiens_hsa012120.63684856
81Melanoma_Homo sapiens_hsa052180.60727219
82Steroid hormone biosynthesis_Homo sapiens_hsa001400.58214244
83Steroid biosynthesis_Homo sapiens_hsa001000.58105685
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.57704860
85Regulation of autophagy_Homo sapiens_hsa041400.56170694
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55803706
87Wnt signaling pathway_Homo sapiens_hsa043100.55594063
88Arachidonic acid metabolism_Homo sapiens_hsa005900.53015065
89Rheumatoid arthritis_Homo sapiens_hsa053230.51270035
90Galactose metabolism_Homo sapiens_hsa000520.50858329
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.48860144
92Glycerolipid metabolism_Homo sapiens_hsa005610.48724220
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46640194
94Circadian rhythm_Homo sapiens_hsa047100.45353590
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45023570
96Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43950528
97Calcium signaling pathway_Homo sapiens_hsa040200.40920325
98Complement and coagulation cascades_Homo sapiens_hsa046100.40306606
99p53 signaling pathway_Homo sapiens_hsa041150.40262702
100Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.36882359

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