OR52H1

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: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cornea development in camera-type eye (GO:0061303)6.44994980
2hormone catabolic process (GO:0042447)5.51872113
3phenol-containing compound catabolic process (GO:0019336)5.24727247
4regulation of non-canonical Wnt signaling pathway (GO:2000050)5.19342444
5ribosomal small subunit assembly (GO:0000028)4.99879723
6brain morphogenesis (GO:0048854)4.50750233
7negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)4.35517771
8auditory receptor cell differentiation (GO:0042491)4.33565291
9dorsal/ventral neural tube patterning (GO:0021904)4.33105610
10replication fork processing (GO:0031297)4.27161178
11limb bud formation (GO:0060174)4.20056421
12mesenchymal-epithelial cell signaling (GO:0060638)4.19451207
13radial glial cell differentiation (GO:0060019)4.18196858
14thyroid hormone generation (GO:0006590)4.09770127
15lactate metabolic process (GO:0006089)4.02554080
16DNA synthesis involved in DNA repair (GO:0000731)3.97195640
17nephron epithelium morphogenesis (GO:0072088)3.90104239
18nephron tubule morphogenesis (GO:0072078)3.90104239
19amyloid precursor protein catabolic process (GO:0042987)3.84698232
20somite development (GO:0061053)3.84481386
21maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.83647885
22establishment of protein localization to mitochondrial membrane (GO:0090151)3.82276750
23DNA replication-dependent nucleosome organization (GO:0034723)3.81689678
24DNA replication-dependent nucleosome assembly (GO:0006335)3.81689678
25male meiosis (GO:0007140)3.76085919
26microtubule depolymerization (GO:0007019)3.75877652
27neuron fate determination (GO:0048664)3.73547937
28negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.73521983
29retinal ganglion cell axon guidance (GO:0031290)3.62438102
30telencephalon development (GO:0021537)3.61931691
31negative regulation of astrocyte differentiation (GO:0048712)3.56764213
32metaphase plate congression (GO:0051310)3.55350357
33cellular ketone body metabolic process (GO:0046950)3.54167147
34acrosome assembly (GO:0001675)3.53726491
35thyroid hormone metabolic process (GO:0042403)3.53550661
36cilium or flagellum-dependent cell motility (GO:0001539)3.49259889
37drug catabolic process (GO:0042737)3.49123129
38hyperosmotic salinity response (GO:0042538)3.46810234
39response to UV-C (GO:0010225)3.44870473
40hematopoietic stem cell proliferation (GO:0071425)3.38933873
41inner mitochondrial membrane organization (GO:0007007)3.36587406
42negative regulation of oligodendrocyte differentiation (GO:0048715)3.36205518
43regulation of sister chromatid cohesion (GO:0007063)3.33588932
44telomere maintenance via semi-conservative replication (GO:0032201)3.30016929
45positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)3.27410409
46axon ensheathment in central nervous system (GO:0032291)3.24234911
47central nervous system myelination (GO:0022010)3.24234911
48branched-chain amino acid catabolic process (GO:0009083)3.19390879
49positive regulation of embryonic development (GO:0040019)3.18334174
50fucose catabolic process (GO:0019317)3.11909577
51L-fucose metabolic process (GO:0042354)3.11909577
52L-fucose catabolic process (GO:0042355)3.11909577
53ketone body metabolic process (GO:1902224)3.10776347
54hair cell differentiation (GO:0035315)3.08398444
55intraciliary transport (GO:0042073)3.08068528
56histone H3-K9 methylation (GO:0051567)3.06754636
57lens development in camera-type eye (GO:0002088)3.04607480
58DNA damage response, detection of DNA damage (GO:0042769)3.01929106
59mitotic metaphase plate congression (GO:0007080)2.99723095
60atrial septum morphogenesis (GO:0060413)2.98741923
61negative chemotaxis (GO:0050919)2.97635606
62recombinational repair (GO:0000725)2.96699043
63cullin deneddylation (GO:0010388)2.95949603
64nucleotide-excision repair, DNA gap filling (GO:0006297)2.93365058
65beta-amyloid metabolic process (GO:0050435)2.92653674
66vocalization behavior (GO:0071625)2.92645929
67regulation of centrosome duplication (GO:0010824)2.92373660
68double-strand break repair via homologous recombination (GO:0000724)2.88335081
69water-soluble vitamin biosynthetic process (GO:0042364)2.85398993
70neuronal stem cell maintenance (GO:0097150)2.84564555
71centriole replication (GO:0007099)2.84115221
72telomere maintenance via recombination (GO:0000722)2.78728966
73mitotic recombination (GO:0006312)2.77842880
74protein deneddylation (GO:0000338)2.77124782
75C4-dicarboxylate transport (GO:0015740)2.75294048
76regulation of centriole replication (GO:0046599)2.72980059
77blastocyst development (GO:0001824)2.71158455
78chromatin remodeling at centromere (GO:0031055)2.70043736
79ncRNA catabolic process (GO:0034661)2.69839740
80organ induction (GO:0001759)2.69404092
81negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.68826265
82valine metabolic process (GO:0006573)2.66927931
83lens morphogenesis in camera-type eye (GO:0002089)2.66854300
84regulation of mesenchymal cell apoptotic process (GO:2001053)2.65326550
85DNA-dependent DNA replication (GO:0006261)2.64737618
86positive regulation of mesonephros development (GO:0061213)2.61849925
87branched-chain amino acid metabolic process (GO:0009081)2.60872363
88camera-type eye development (GO:0043010)2.60320857
89positive regulation of developmental pigmentation (GO:0048087)2.58144061
90GMP metabolic process (GO:0046037)2.57702903
91resolution of meiotic recombination intermediates (GO:0000712)2.56087689
92mRNA cleavage (GO:0006379)2.55679950
93detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.55467610
94pattern specification involved in kidney development (GO:0061004)2.55275529
95positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.54915854
96epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.54849340
97eye development (GO:0001654)2.54111897
98regulation of DNA endoreduplication (GO:0032875)2.53686518
99regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.53638013
100presynaptic membrane assembly (GO:0097105)2.52733230

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.37287742
2IGF1R_20145208_ChIP-Seq_DFB_Human3.29404533
3TAF15_26573619_Chip-Seq_HEK293_Human3.27046267
4ZNF274_21170338_ChIP-Seq_K562_Hela3.23436171
5E2F7_22180533_ChIP-Seq_HELA_Human2.69735496
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.43341894
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.41405363
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.37432101
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.33547689
10E2F4_17652178_ChIP-ChIP_JURKAT_Human2.31138062
11SALL1_21062744_ChIP-ChIP_HESCs_Human2.27762182
12EZH2_22144423_ChIP-Seq_EOC_Human2.26511938
13GBX2_23144817_ChIP-Seq_PC3_Human2.25932451
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25587463
15EWS_26573619_Chip-Seq_HEK293_Human2.13896090
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.09710764
17AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.05603146
18CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.01533098
19PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.01512412
20VDR_22108803_ChIP-Seq_LS180_Human2.01489010
21CTBP1_25329375_ChIP-Seq_LNCAP_Human1.99559293
22FUS_26573619_Chip-Seq_HEK293_Human1.97919641
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.97625588
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.88064400
25PIAS1_25552417_ChIP-Seq_VCAP_Human1.86931654
26P300_19829295_ChIP-Seq_ESCs_Human1.81741272
27MYC_18940864_ChIP-ChIP_HL60_Human1.75331974
28AR_25329375_ChIP-Seq_VCAP_Human1.73406004
29MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.69365489
30HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.67788609
31EST1_17652178_ChIP-ChIP_JURKAT_Human1.66274676
32UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.63442987
33TP63_19390658_ChIP-ChIP_HaCaT_Human1.62243269
34MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.56729307
35SMAD4_21799915_ChIP-Seq_A2780_Human1.54024081
36AUTS2_25519132_ChIP-Seq_293T-REX_Human1.52963534
37GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.50365651
38STAT3_23295773_ChIP-Seq_U87_Human1.50032554
39RUNX2_22187159_ChIP-Seq_PCA_Human1.49976905
40BCAT_22108803_ChIP-Seq_LS180_Human1.49918995
41TCF4_22108803_ChIP-Seq_LS180_Human1.47363395
42CBP_20019798_ChIP-Seq_JUKART_Human1.46045606
43IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.46045606
44JUN_21703547_ChIP-Seq_K562_Human1.44187724
45IRF1_19129219_ChIP-ChIP_H3396_Human1.44185450
46SOX9_26525672_Chip-Seq_HEART_Mouse1.42594937
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.42153683
48CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.39573341
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37167267
50TCF4_23295773_ChIP-Seq_U87_Human1.37054450
51TBL1_22424771_ChIP-Seq_293T_Human1.33876935
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33843399
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31936055
54SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31883240
55CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.27101105
56NR3C1_21868756_ChIP-Seq_MCF10A_Human1.26478118
57ER_23166858_ChIP-Seq_MCF-7_Human1.25429952
58POU5F1_16153702_ChIP-ChIP_HESCs_Human1.24400283
59FOXP3_21729870_ChIP-Seq_TREG_Human1.24173610
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23316950
61RXR_22108803_ChIP-Seq_LS180_Human1.22665292
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.22034362
63PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21329976
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.18620615
65FOXM1_23109430_ChIP-Seq_U2OS_Human1.17769625
66GABP_17652178_ChIP-ChIP_JURKAT_Human1.16929040
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15675562
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14378234
69RNF2_27304074_Chip-Seq_NSC_Mouse1.13846439
70FOXM1_26456572_ChIP-Seq_MCF-7_Human1.11407693
71CREB1_15753290_ChIP-ChIP_HEK293T_Human1.10317344
72NANOG_19829295_ChIP-Seq_ESCs_Human1.09650401
73SOX2_19829295_ChIP-Seq_ESCs_Human1.09650401
74HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08731304
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08525385
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08428114
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.08428114
78FLI1_27457419_Chip-Seq_LIVER_Mouse1.08041008
79NFYB_21822215_ChIP-Seq_K562_Human1.07308649
80CDX2_22108803_ChIP-Seq_LS180_Human1.05423120
81HTT_18923047_ChIP-ChIP_STHdh_Human1.05276851
82SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.04296287
83ELK1_19687146_ChIP-ChIP_HELA_Human1.04111297
84KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.02563075
85KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01260048
86TAL1_26923725_Chip-Seq_HPCs_Mouse1.00904578
87FOXA1_21572438_ChIP-Seq_LNCaP_Human1.00622519
88E2F1_21310950_ChIP-Seq_MCF-7_Human1.00515779
89PRDM14_20953172_ChIP-Seq_ESCs_Human1.00490709
90RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00177889
91* CBP_21632823_ChIP-Seq_H3396_Human0.99273686
92YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99121976
93NFYA_21822215_ChIP-Seq_K562_Human0.99092298
94EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.98928756
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97777765
96PHF8_20622853_ChIP-Seq_HELA_Human0.96573443
97TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96293022
98SOX2_21211035_ChIP-Seq_LN229_Gbm0.95257970
99FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95038763
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.94925105

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003122_maternal_imprinting6.36232728
2MP0003121_genomic_imprinting3.70094245
3MP0006292_abnormal_olfactory_placode3.46912930
4MP0002102_abnormal_ear_morphology3.27373373
5MP0003136_yellow_coat_color3.15447306
6MP0005377_hearing/vestibular/ear_phenot3.05867911
7MP0003878_abnormal_ear_physiology3.05867911
8MP0003011_delayed_dark_adaptation2.70963009
9MP0010094_abnormal_chromosome_stability2.58199765
10MP0001293_anophthalmia2.30542144
11MP0002736_abnormal_nociception_after2.28545115
12MP0005253_abnormal_eye_physiology2.21412538
13MP0001984_abnormal_olfaction2.16426647
14MP0006072_abnormal_retinal_apoptosis2.06435090
15MP0003787_abnormal_imprinting2.04834871
16MP0001986_abnormal_taste_sensitivity2.00830436
17MP0003937_abnormal_limbs/digits/tail_de1.96632559
18MP0001485_abnormal_pinna_reflex1.93685946
19MP0005551_abnormal_eye_electrophysiolog1.85282637
20MP0002938_white_spotting1.82075551
21MP0008058_abnormal_DNA_repair1.77853946
22MP0003693_abnormal_embryo_hatching1.71388631
23MP0002282_abnormal_trachea_morphology1.67481136
24MP0005647_abnormal_sex_gland1.61171652
25MP0000631_abnormal_neuroendocrine_gland1.50087756
26MP0005646_abnormal_pituitary_gland1.49836085
27MP0005248_abnormal_Harderian_gland1.48290029
28MP0002751_abnormal_autonomic_nervous1.47994732
29MP0002697_abnormal_eye_size1.47679791
30MP0002233_abnormal_nose_morphology1.45840878
31MP0003646_muscle_fatigue1.44692945
32MP0001968_abnormal_touch/_nociception1.44077374
33MP0008057_abnormal_DNA_replication1.42010031
34MP0001529_abnormal_vocalization1.41649975
35MP0003111_abnormal_nucleus_morphology1.41185961
36MP0008877_abnormal_DNA_methylation1.38403504
37MP0005391_vision/eye_phenotype1.34754612
38MP0000372_irregular_coat_pigmentation1.32280600
39MP0001486_abnormal_startle_reflex1.26396988
40MP0001286_abnormal_eye_development1.26098442
41MP0008789_abnormal_olfactory_epithelium1.16288556
42MP0004215_abnormal_myocardial_fiber1.15317867
43MP0008007_abnormal_cellular_replicative1.14993908
44MP0002653_abnormal_ependyma_morphology1.14494729
45MP0003755_abnormal_palate_morphology1.13714960
46MP0003942_abnormal_urinary_system1.13464747
47MP0000026_abnormal_inner_ear1.09906557
48MP0000778_abnormal_nervous_system1.09785648
49MP0002095_abnormal_skin_pigmentation1.09150052
50MP0006054_spinal_hemorrhage1.08826074
51MP0004142_abnormal_muscle_tone1.07742234
52MP0002295_abnormal_pulmonary_circulatio1.02560146
53MP0002210_abnormal_sex_determination1.01920232
54MP0000428_abnormal_craniofacial_morphol1.01579248
55MP0005423_abnormal_somatic_nervous0.99918502
56MP0005195_abnormal_posterior_eye0.99613528
57MP0010030_abnormal_orbit_morphology0.98736590
58MP0000383_abnormal_hair_follicle0.98285318
59MP0001963_abnormal_hearing_physiology0.96630283
60MP0003936_abnormal_reproductive_system0.95968422
61MP0003941_abnormal_skin_development0.95572660
62MP0001764_abnormal_homeostasis0.94740292
63MP0003880_abnormal_central_pattern0.91546574
64MP0002009_preneoplasia0.91518591
65MP0000653_abnormal_sex_gland0.88023144
66MP0002928_abnormal_bile_duct0.85823824
67MP0001929_abnormal_gametogenesis0.82661657
68MP0003890_abnormal_embryonic-extraembry0.82294633
69MP0001119_abnormal_female_reproductive0.81974378
70MP0002249_abnormal_larynx_morphology0.80757953
71MP0000613_abnormal_salivary_gland0.78391300
72MP0009780_abnormal_chondrocyte_physiolo0.77504623
73MP0003123_paternal_imprinting0.77448302
74MP0005645_abnormal_hypothalamus_physiol0.77377432
75MP0003698_abnormal_male_reproductive0.77229779
76MP0001501_abnormal_sleep_pattern0.76459297
77MP0001177_atelectasis0.76381478
78MP0006276_abnormal_autonomic_nervous0.76262424
79MP0002557_abnormal_social/conspecific_i0.75373222
80MP0008872_abnormal_physiological_respon0.75103504
81MP0001145_abnormal_male_reproductive0.73182071
82MP0002089_abnormal_postnatal_growth/wei0.72965642
83MP0003195_calcinosis0.72466133
84MP0002752_abnormal_somatic_nervous0.71484962
85MP0003861_abnormal_nervous_system0.70922871
86MP0002254_reproductive_system_inflammat0.69151528
87MP0002109_abnormal_limb_morphology0.68957870
88MP0003077_abnormal_cell_cycle0.68569774
89MP0005394_taste/olfaction_phenotype0.68273221
90MP0005499_abnormal_olfactory_system0.68273221
91MP0000467_abnormal_esophagus_morphology0.67633697
92MP0000049_abnormal_middle_ear0.67602862
93MP0002111_abnormal_tail_morphology0.66791930
94MP0005167_abnormal_blood-brain_barrier0.66140490
95MP0002132_abnormal_respiratory_system0.65457899
96MP0009250_abnormal_appendicular_skeleto0.65417355
97MP0000516_abnormal_urinary_system0.65143443
98MP0005367_renal/urinary_system_phenotyp0.65143443
99MP0003938_abnormal_ear_development0.64697702
100MP0003959_abnormal_lean_body0.64141636

Predicted human phenotypes

RankGene SetZ-score
1Zonular cataract (HP:0010920)4.19650198
2Chromosomal breakage induced by crosslinking agents (HP:0003221)3.98536121
3Abnormality of the proximal phalanges of the hand (HP:0009834)3.85147900
4Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)3.45061978
5Short 1st metacarpal (HP:0010034)3.45061978
6Chromsome breakage (HP:0040012)3.44249432
7Irregular epiphyses (HP:0010582)3.19348351
8Abnormality of midbrain morphology (HP:0002418)3.12974028
9Molar tooth sign on MRI (HP:0002419)3.12974028
10Pancreatic fibrosis (HP:0100732)3.09920250
11Anophthalmia (HP:0000528)3.06517118
12Genital tract atresia (HP:0001827)3.03220550
13Abnormality of the 1st metacarpal (HP:0010009)3.02100212
14Vaginal atresia (HP:0000148)2.91183097
15Bifid tongue (HP:0010297)2.85555342
16Meckel diverticulum (HP:0002245)2.83499179
17Aplasia/Hypoplasia of the uvula (HP:0010293)2.81584438
18Pancreatic cysts (HP:0001737)2.78684956
19Vitreoretinal degeneration (HP:0000655)2.76696918
20Cutaneous melanoma (HP:0012056)2.74524279
21Abnormality of the ileum (HP:0001549)2.72751990
22Abolished electroretinogram (ERG) (HP:0000550)2.70820311
23Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.70296841
24Absent epiphyses (HP:0010577)2.70296841
25Bilateral microphthalmos (HP:0007633)2.69051276
26Absent eyebrow (HP:0002223)2.68591606
27True hermaphroditism (HP:0010459)2.66035859
28Abnormality of the preputium (HP:0100587)2.63106275
29Septo-optic dysplasia (HP:0100842)2.61827481
30Squamous cell carcinoma (HP:0002860)2.58424239
31Abnormality of cochlea (HP:0000375)2.57214815
32Abnormal lung lobation (HP:0002101)2.57073255
33Nephronophthisis (HP:0000090)2.49343174
34Volvulus (HP:0002580)2.46492424
35Gonadotropin excess (HP:0000837)2.45295843
36Clubbing of toes (HP:0100760)2.45265173
37Abnormality of chromosome stability (HP:0003220)2.39056075
38Hypoplastic pelvis (HP:0008839)2.37396631
39Reticulocytopenia (HP:0001896)2.37268000
40Aplasia/Hypoplasia of the tibia (HP:0005772)2.36404476
41Chorioretinal coloboma (HP:0000567)2.34698318
42Hypoplasia of the capital femoral epiphysis (HP:0003090)2.34481352
43Aplasia/Hypoplasia of the sternum (HP:0006714)2.32373803
44Absent rod-and cone-mediated responses on ERG (HP:0007688)2.31285421
45High anterior hairline (HP:0009890)2.30288837
46Morphological abnormality of the middle ear (HP:0008609)2.29592835
47Medial flaring of the eyebrow (HP:0010747)2.28699850
48Morphological abnormality of the inner ear (HP:0011390)2.28448152
49Abnormality of the pubic bones (HP:0003172)2.27257257
50Chronic hepatic failure (HP:0100626)2.21302559
51Secondary amenorrhea (HP:0000869)2.20840931
52Ectopic kidney (HP:0000086)2.16688188
53Myelomeningocele (HP:0002475)2.15622717
54Absent eyelashes (HP:0000561)2.14494810
55Short tibia (HP:0005736)2.13929303
563-Methylglutaconic aciduria (HP:0003535)2.13642177
57Triphalangeal thumb (HP:0001199)2.13237654
58Abnormality of the vertebral endplates (HP:0005106)2.12196144
59Bicornuate uterus (HP:0000813)2.11622596
60Median cleft lip (HP:0000161)2.08847875
61Growth hormone deficiency (HP:0000824)2.08759504
62Abnormality of the phalanges of the 2nd finger (HP:0009541)2.08461583
63Congenital primary aphakia (HP:0007707)2.08344362
64Carpal bone hypoplasia (HP:0001498)2.08152494
65Epidermoid cyst (HP:0200040)2.06587306
66Gait imbalance (HP:0002141)2.05701589
67Tracheal stenosis (HP:0002777)2.04225289
68Oligodactyly (hands) (HP:0001180)2.03727021
69Sloping forehead (HP:0000340)2.03560302
70Cellular immunodeficiency (HP:0005374)2.03054010
71Absent thumb (HP:0009777)2.00556204
72Abnormal ciliary motility (HP:0012262)2.00439727
73Optic nerve hypoplasia (HP:0000609)1.99690814
74Short phalanx of the thumb (HP:0009660)1.99221869
75Sclerocornea (HP:0000647)1.97991301
76Abnormality of the carotid arteries (HP:0005344)1.97946347
77Disproportionate short-trunk short stature (HP:0003521)1.96487053
78Short thumb (HP:0009778)1.96378498
79Long clavicles (HP:0000890)1.96054490
80Duodenal stenosis (HP:0100867)1.93280158
81Small intestinal stenosis (HP:0012848)1.93280158
82Flattened epiphyses (HP:0003071)1.93068771
83Abnormal respiratory epithelium morphology (HP:0012253)1.92828704
84Abnormal respiratory motile cilium morphology (HP:0005938)1.92828704
85Midline defect of the nose (HP:0004122)1.92034418
86Syncope (HP:0001279)1.90955297
87Abnormal rod and cone electroretinograms (HP:0008323)1.89015251
88Postaxial foot polydactyly (HP:0001830)1.87718972
89Renal hypoplasia (HP:0000089)1.87634700
90Hepatoblastoma (HP:0002884)1.85792869
91Abnormality of the renal medulla (HP:0100957)1.85781347
92Skull defect (HP:0001362)1.83150261
93Cupped ear (HP:0000378)1.82993256
94Pancreatic islet-cell hyperplasia (HP:0004510)1.81450473
95Abnormality of the duodenum (HP:0002246)1.80935754
96Corneal dystrophy (HP:0001131)1.79843700
97Facial cleft (HP:0002006)1.76377368
98Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.73144108
99Absent/shortened dynein arms (HP:0200106)1.72363709
100Dynein arm defect of respiratory motile cilia (HP:0012255)1.72363709

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K23.84812613
2BRSK23.31783397
3FRK3.31571356
4NEK13.30571855
5BMPR1B2.73519217
6ACVR1B2.61107599
7BCKDK2.42466224
8CSNK1A1L2.21558211
9PLK42.07801908
10CSNK1G32.04535036
11TRIM281.93143551
12CASK1.90311475
13TNK21.83195900
14CSNK1G21.77642434
15TGFBR11.77496639
16MAP3K41.72949260
17TTK1.72149739
18PBK1.71462981
19CSNK1G11.64983477
20INSRR1.60834846
21TNIK1.59559757
22PLK31.57640868
23LIMK11.54711887
24ZAK1.53781096
25NUAK11.53729027
26BUB11.53272362
27WNK31.37679463
28MARK31.32806169
29PASK1.29160734
30ERBB31.28570223
31MKNK11.27471939
32CDK81.26868512
33STK391.25346413
34GRK11.25039959
35EPHA41.23679157
36AURKB1.18478295
37RPS6KB21.11836935
38TAOK31.11747382
39EIF2AK31.10073580
40CHEK21.08578310
41ATM1.00080652
42MAP3K121.00003788
43MKNK20.99214350
44BRSK10.94976234
45PAK60.94867333
46STK240.94534511
47DYRK1A0.94080530
48CDK30.91180832
49PKN10.90363239
50PAK30.90176282
51ATR0.89545304
52NTRK30.88781505
53OXSR10.87990666
54PLK10.85707647
55MINK10.85462986
56EIF2AK10.82216622
57WNK40.80378324
58STK30.77166189
59BTK0.74784532
60PRKCG0.72035030
61TXK0.69139619
62NEK20.68553106
63AKT30.67862351
64PRKDC0.67598476
65CDK90.66217935
66ADRBK20.65447562
67PLK20.64499136
68ROCK10.63352853
69NME10.59292271
70MUSK0.57622747
71DYRK20.56632360
72WEE10.56583413
73EPHB20.53776632
74SRPK10.53469924
75FGR0.52666178
76RAF10.52459422
77OBSCN0.52369668
78ADRBK10.52150217
79KSR10.51717485
80MAPK130.51470212
81MAPK150.50961423
82CDC42BPA0.49298021
83FGFR20.49166761
84MAP2K10.48853984
85MAP2K40.48288234
86VRK10.47131579
87PRKCZ0.45007656
88PINK10.44557892
89CSNK2A20.44411380
90EIF2AK20.42405198
91CSNK2A10.42155591
92ROCK20.41609610
93PRKCE0.41430033
94FGFR10.40058376
95CSNK1A10.39003416
96PRKACA0.37211321
97NLK0.36352029
98MAP2K60.36315438
99DYRK30.34694765
100MELK0.34102913

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000725.78466834
2Non-homologous end-joining_Homo sapiens_hsa034503.11442238
3Homologous recombination_Homo sapiens_hsa034403.02080396
4Butanoate metabolism_Homo sapiens_hsa006502.90934847
5Base excision repair_Homo sapiens_hsa034102.83401068
6Mismatch repair_Homo sapiens_hsa034302.74233679
7Basal cell carcinoma_Homo sapiens_hsa052172.62337935
8Propanoate metabolism_Homo sapiens_hsa006402.61790229
9Hedgehog signaling pathway_Homo sapiens_hsa043402.48431027
10Steroid biosynthesis_Homo sapiens_hsa001002.34756506
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.28104042
12Fanconi anemia pathway_Homo sapiens_hsa034602.22574178
13DNA replication_Homo sapiens_hsa030302.17498622
14Fatty acid metabolism_Homo sapiens_hsa012122.01174474
15Protein export_Homo sapiens_hsa030601.95681144
16Fatty acid elongation_Homo sapiens_hsa000621.82317676
17Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.79659472
18Fatty acid degradation_Homo sapiens_hsa000711.69008221
19Nucleotide excision repair_Homo sapiens_hsa034201.68273805
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65129526
21Cysteine and methionine metabolism_Homo sapiens_hsa002701.58843057
22Linoleic acid metabolism_Homo sapiens_hsa005911.54966517
23Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.52850928
24Basal transcription factors_Homo sapiens_hsa030221.50555862
25Peroxisome_Homo sapiens_hsa041461.44739657
26Nitrogen metabolism_Homo sapiens_hsa009101.40399760
27Ribosome_Homo sapiens_hsa030101.35472762
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.25242757
29Lysine degradation_Homo sapiens_hsa003101.23281918
30Pyruvate metabolism_Homo sapiens_hsa006201.15564837
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.13769735
32Tryptophan metabolism_Homo sapiens_hsa003801.11570800
33Hippo signaling pathway_Homo sapiens_hsa043901.05665432
34RNA polymerase_Homo sapiens_hsa030201.04829548
35Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02857787
36Pyrimidine metabolism_Homo sapiens_hsa002400.98900438
37Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.96539443
38Notch signaling pathway_Homo sapiens_hsa043300.96023164
39Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.95308517
40Phototransduction_Homo sapiens_hsa047440.93802683
41Vitamin B6 metabolism_Homo sapiens_hsa007500.93051067
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90929325
43RNA transport_Homo sapiens_hsa030130.88664848
44Fat digestion and absorption_Homo sapiens_hsa049750.88001085
45Ether lipid metabolism_Homo sapiens_hsa005650.87700274
46Proteasome_Homo sapiens_hsa030500.87214443
47Fatty acid biosynthesis_Homo sapiens_hsa000610.84742786
48Melanogenesis_Homo sapiens_hsa049160.84530073
49Glutathione metabolism_Homo sapiens_hsa004800.81599149
50Arachidonic acid metabolism_Homo sapiens_hsa005900.76912418
51Wnt signaling pathway_Homo sapiens_hsa043100.72575012
52Regulation of autophagy_Homo sapiens_hsa041400.71412775
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70739602
54Taste transduction_Homo sapiens_hsa047420.70366508
55beta-Alanine metabolism_Homo sapiens_hsa004100.70097114
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.69234576
57Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67399568
58Purine metabolism_Homo sapiens_hsa002300.67255945
59RNA degradation_Homo sapiens_hsa030180.66940689
60Selenocompound metabolism_Homo sapiens_hsa004500.64139360
61Spliceosome_Homo sapiens_hsa030400.62282890
622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.62220227
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61928512
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.60925132
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.60729458
66Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.54603318
67Thyroid hormone synthesis_Homo sapiens_hsa049180.53317397
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.52523050
69p53 signaling pathway_Homo sapiens_hsa041150.52476172
70Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.51362097
71Biosynthesis of amino acids_Homo sapiens_hsa012300.50938730
72Ovarian steroidogenesis_Homo sapiens_hsa049130.50179925
73Dorso-ventral axis formation_Homo sapiens_hsa043200.48828380
74Cell cycle_Homo sapiens_hsa041100.48767679
75Histidine metabolism_Homo sapiens_hsa003400.45573852
76Salivary secretion_Homo sapiens_hsa049700.44936128
77Chemical carcinogenesis_Homo sapiens_hsa052040.42351297
78Metabolic pathways_Homo sapiens_hsa011000.42113184
79Huntingtons disease_Homo sapiens_hsa050160.41633362
80Insulin secretion_Homo sapiens_hsa049110.40671239
81Caffeine metabolism_Homo sapiens_hsa002320.40589540
82Pancreatic secretion_Homo sapiens_hsa049720.38748807
83* Olfactory transduction_Homo sapiens_hsa047400.38547280
84Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37777710
85Glutamatergic synapse_Homo sapiens_hsa047240.36849403
86Axon guidance_Homo sapiens_hsa043600.35438772
87TGF-beta signaling pathway_Homo sapiens_hsa043500.35201122
88Nicotine addiction_Homo sapiens_hsa050330.33542518
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.33301040
90Long-term depression_Homo sapiens_hsa047300.31240235
91Serotonergic synapse_Homo sapiens_hsa047260.27457737
92Retinol metabolism_Homo sapiens_hsa008300.26724355
93Bile secretion_Homo sapiens_hsa049760.26354870
94Vitamin digestion and absorption_Homo sapiens_hsa049770.25950801
95Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.24799986
96ABC transporters_Homo sapiens_hsa020100.23427551
97Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.22883582
98Drug metabolism - other enzymes_Homo sapiens_hsa009830.22564354
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.22128473
100Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21476191

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