OR52A1

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
1L-serine transport (GO:0015825)7.98403554
2regulation of mesoderm development (GO:2000380)7.85596675
3phospholipid scrambling (GO:0017121)7.16296333
4serine transport (GO:0032329)6.98008327
5somite rostral/caudal axis specification (GO:0032525)6.79696970
6primitive streak formation (GO:0090009)6.14622771
7anterior/posterior axis specification, embryo (GO:0008595)6.04038199
8negative regulation of activin receptor signaling pathway (GO:0032926)5.96166259
9cell migration involved in gastrulation (GO:0042074)5.94360654
10endoderm formation (GO:0001706)5.93777111
11DNA replication-dependent nucleosome organization (GO:0034723)5.78204125
12DNA replication-dependent nucleosome assembly (GO:0006335)5.78204125
13anterior/posterior axis specification (GO:0009948)5.66840124
14chromatin remodeling at centromere (GO:0031055)5.50125169
15DNA double-strand break processing (GO:0000729)5.49033026
16CENP-A containing nucleosome assembly (GO:0034080)5.45744252
17sequestering of extracellular ligand from receptor (GO:0035581)5.13191688
18histone exchange (GO:0043486)4.88678068
19signal transduction involved in regulation of gene expression (GO:0023019)4.84416638
20embryonic axis specification (GO:0000578)4.81188361
21regulation of activin receptor signaling pathway (GO:0032925)4.59208481
22replication fork processing (GO:0031297)4.35443194
23response to hepatocyte growth factor (GO:0035728)4.14617125
24cellular response to hepatocyte growth factor stimulus (GO:0035729)4.14617125
25female gonad development (GO:0008585)4.14594319
26dorsal/ventral axis specification (GO:0009950)4.12503375
27DNA replication-independent nucleosome organization (GO:0034724)4.12500691
28DNA replication-independent nucleosome assembly (GO:0006336)4.12500691
29DNA deamination (GO:0045006)4.08068359
30nodal signaling pathway (GO:0038092)3.99091890
31RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.89240716
32proteasome assembly (GO:0043248)3.87025391
33Rap protein signal transduction (GO:0032486)3.84799744
34positive regulation of protein autophosphorylation (GO:0031954)3.83733101
35gastrulation (GO:0007369)3.82127850
36fat-soluble vitamin catabolic process (GO:0042363)3.81022554
37vitamin catabolic process (GO:0009111)3.81022554
38regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.74238668
39embryonic pattern specification (GO:0009880)3.71900276
40regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.63819207
41myeloid leukocyte mediated immunity (GO:0002444)3.48509799
42axis specification (GO:0009798)3.43182275
43maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.37554567
44negative regulation of axon extension involved in axon guidance (GO:0048843)3.35998127
45DNA strand renaturation (GO:0000733)3.29662968
46regulation of gastrulation (GO:0010470)3.29577423
47negative regulation of DNA-dependent DNA replication (GO:2000104)3.29282043
48positive regulation of gastrulation (GO:2000543)3.25973767
49limb bud formation (GO:0060174)3.22833857
50extracellular regulation of signal transduction (GO:1900115)3.20958157
51extracellular negative regulation of signal transduction (GO:1900116)3.20958157
52embryonic foregut morphogenesis (GO:0048617)3.14133531
53regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.13480451
54response to BMP (GO:0071772)3.12878914
55cellular response to BMP stimulus (GO:0071773)3.12878914
56negative regulation of cell fate commitment (GO:0010454)3.06068415
57DNA catabolic process, exonucleolytic (GO:0000738)3.02470394
58regulation of collateral sprouting (GO:0048670)3.01625953
59kidney morphogenesis (GO:0060993)3.00858228
60negative regulation of cell fate specification (GO:0009996)2.99704204
61cellular response to estrogen stimulus (GO:0071391)2.96414538
62RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.96362709
63tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.96362709
64regulation of cardioblast differentiation (GO:0051890)2.91429916
65branch elongation of an epithelium (GO:0060602)2.90207830
66somatic diversification of immune receptors via somatic mutation (GO:0002566)2.88215078
67somatic hypermutation of immunoglobulin genes (GO:0016446)2.88215078
68mitotic G2/M transition checkpoint (GO:0044818)2.85603325
69somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.85125915
70somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.85125915
71isotype switching (GO:0045190)2.85125915
72response to interferon-beta (GO:0035456)2.83927618
73regulation of acyl-CoA biosynthetic process (GO:0050812)2.82588334
74DNA replication checkpoint (GO:0000076)2.81721960
75exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.78654230
76regulation of cofactor metabolic process (GO:0051193)2.77808503
77regulation of coenzyme metabolic process (GO:0051196)2.77808503
78ATP-dependent chromatin remodeling (GO:0043044)2.77683664
79negative regulation of DNA recombination (GO:0045910)2.75933088
80glycosphingolipid biosynthetic process (GO:0006688)2.75811580
81germ cell migration (GO:0008354)2.72406858
82phosphatidylserine metabolic process (GO:0006658)2.68998079
83histone mRNA metabolic process (GO:0008334)2.68954775
84regulation of cell fate commitment (GO:0010453)2.67000537
85protein K6-linked ubiquitination (GO:0085020)2.66644752
86regulation of nuclear cell cycle DNA replication (GO:0033262)2.66232151
87nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.62805937
88sterol biosynthetic process (GO:0016126)2.62644477
89lysine metabolic process (GO:0006553)2.62052059
90lysine catabolic process (GO:0006554)2.62052059
91retinoic acid metabolic process (GO:0042573)2.61648334
92genitalia morphogenesis (GO:0035112)2.61544792
93cullin deneddylation (GO:0010388)2.57328639
94negative regulation of axon guidance (GO:1902668)2.56825189
95cytidine metabolic process (GO:0046087)2.55249603
96cytidine catabolic process (GO:0006216)2.55249603
97cytidine deamination (GO:0009972)2.55249603
98negative regulation of sodium ion transport (GO:0010766)2.52887665
99regulation of cell fate specification (GO:0042659)2.52105836
100response to X-ray (GO:0010165)2.51836030

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human3.87353084
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.72614137
3VDR_22108803_ChIP-Seq_LS180_Human3.06279367
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.06253010
5FLI1_27457419_Chip-Seq_LIVER_Mouse2.89777332
6SMAD3_21741376_ChIP-Seq_HESCs_Human2.73697278
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.71426920
8P300_19829295_ChIP-Seq_ESCs_Human2.66488798
9SMAD3_21741376_ChIP-Seq_EPCs_Human2.41140240
10ZNF274_21170338_ChIP-Seq_K562_Hela2.41134443
11GBX2_23144817_ChIP-Seq_PC3_Human2.40154907
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.39604426
13POU5F1_16153702_ChIP-ChIP_HESCs_Human2.38741188
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.37339873
15* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.37092160
16SMAD4_21741376_ChIP-Seq_HESCs_Human2.31258209
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.29359472
18PCGF2_27294783_Chip-Seq_ESCs_Mouse2.28930440
19EWS_26573619_Chip-Seq_HEK293_Human2.20456008
20MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.16805379
21FUS_26573619_Chip-Seq_HEK293_Human2.11291040
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.09688254
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.07948201
24SMAD2/3_21741376_ChIP-Seq_EPCs_Human2.07684973
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05359615
26CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.01854378
27GABP_17652178_ChIP-ChIP_JURKAT_Human2.01232888
28NANOG_16153702_ChIP-ChIP_HESCs_Human1.85595915
29PCGF2_27294783_Chip-Seq_NPCs_Mouse1.85349613
30NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.83895761
31KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.83510674
32KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.83510674
33KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.83510674
34SMAD4_21741376_ChIP-Seq_EPCs_Human1.78799218
35* EOMES_21245162_ChIP-Seq_HESCs_Human1.77394740
36BCAT_22108803_ChIP-Seq_LS180_Human1.77273739
37TAF15_26573619_Chip-Seq_HEK293_Human1.70851321
38ELK1_19687146_ChIP-ChIP_HELA_Human1.69479712
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69014209
40CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.68776796
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57580649
42MYC_18940864_ChIP-ChIP_HL60_Human1.53414415
43IGF1R_20145208_ChIP-Seq_DFB_Human1.48156805
44AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.44117151
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.43147820
46NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.41607158
47CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.41276096
48CREB1_15753290_ChIP-ChIP_HEK293T_Human1.40861189
49HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.39835424
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38799479
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.37632409
52TCF4_22108803_ChIP-Seq_LS180_Human1.36625797
53PADI4_21655091_ChIP-ChIP_MCF-7_Human1.35354016
54KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.33886181
55EZH2_27294783_Chip-Seq_NPCs_Mouse1.33729844
56ESR1_15608294_ChIP-ChIP_MCF-7_Human1.33666576
57SOX2_19829295_ChIP-Seq_ESCs_Human1.32579501
58NANOG_19829295_ChIP-Seq_ESCs_Human1.32579501
59CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.31166489
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31145484
61EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31008912
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.26687007
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.25552073
64NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.23279438
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.22886693
66NFE2_27457419_Chip-Seq_LIVER_Mouse1.21667802
67TCF3_18692474_ChIP-Seq_MEFs_Mouse1.19701049
68UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14525565
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.13767802
70BP1_19119308_ChIP-ChIP_Hs578T_Human1.13490915
71CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.13334526
72SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12804602
73KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.10794707
74NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.09452176
75FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09299242
76RBPJ_22232070_ChIP-Seq_NCS_Mouse1.09109338
77FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.07975965
78SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.07760191
79MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07620655
80TBX3_20139965_ChIP-Seq_ESCs_Mouse1.07537372
81TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07034249
82CDX2_22108803_ChIP-Seq_LS180_Human1.07016854
83AR_25329375_ChIP-Seq_VCAP_Human1.04835759
84CRX_20693478_ChIP-Seq_RETINA_Mouse1.04745019
85PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04135414
86AR_21909140_ChIP-Seq_LNCAP_Human1.03089626
87FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02271694
88FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01624132
89FOXA1_25329375_ChIP-Seq_VCAP_Human1.01624132
90VDR_23849224_ChIP-Seq_CD4+_Human1.00149914
91FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.99788094
92TP53_22573176_ChIP-Seq_HFKS_Human0.98632696
93SOX2_16153702_ChIP-ChIP_HESCs_Human0.98486198
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.98459186
95RUNX2_22187159_ChIP-Seq_PCA_Human0.97565511
96ER_23166858_ChIP-Seq_MCF-7_Human0.96390131
97SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96099688
98WT1_19549856_ChIP-ChIP_CCG9911_Human0.96058001
99TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95700157
100STAT3_23295773_ChIP-Seq_U87_Human0.95488474

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003890_abnormal_embryonic-extraembry7.60162048
2MP0008004_abnormal_stomach_pH5.04867650
3MP0002254_reproductive_system_inflammat4.21097184
4MP0005394_taste/olfaction_phenotype3.60913150
5MP0005499_abnormal_olfactory_system3.60913150
6MP0003119_abnormal_digestive_system3.50919317
7MP0002736_abnormal_nociception_after3.01492902
8MP0001984_abnormal_olfaction3.00214633
9MP0006054_spinal_hemorrhage2.52090237
10MP0002277_abnormal_respiratory_mucosa2.44005919
11MP0001968_abnormal_touch/_nociception2.35342353
12MP0002102_abnormal_ear_morphology2.32079817
13MP0008995_early_reproductive_senescence2.15539877
14MP0003136_yellow_coat_color2.13113897
15MP0010094_abnormal_chromosome_stability2.09128082
16MP0008877_abnormal_DNA_methylation2.04806375
17MP0003195_calcinosis1.92765848
18MP0005671_abnormal_response_to1.91169143
19MP0003786_premature_aging1.89202031
20MP0004133_heterotaxia1.87635546
21MP0001293_anophthalmia1.84151681
22MP0008058_abnormal_DNA_repair1.77350830
23MP0004957_abnormal_blastocyst_morpholog1.76406238
24MP0003880_abnormal_central_pattern1.74620232
25MP0001529_abnormal_vocalization1.69150315
26MP0000372_irregular_coat_pigmentation1.60559794
27MP0003937_abnormal_limbs/digits/tail_de1.58129917
28MP0003693_abnormal_embryo_hatching1.57203621
29MP0001485_abnormal_pinna_reflex1.54096820
30MP0008872_abnormal_physiological_respon1.53255465
31MP0006072_abnormal_retinal_apoptosis1.52553961
32MP0003941_abnormal_skin_development1.50030175
33MP0006292_abnormal_olfactory_placode1.48510966
34MP0010030_abnormal_orbit_morphology1.47072187
35MP0003567_abnormal_fetal_cardiomyocyte1.38513512
36MP0001286_abnormal_eye_development1.32327104
37MP0008932_abnormal_embryonic_tissue1.31602412
38MP0002938_white_spotting1.30061312
39MP0004147_increased_porphyrin_level1.28317358
40MP0002084_abnormal_developmental_patter1.26058143
41MP0002233_abnormal_nose_morphology1.23190893
42MP0004145_abnormal_muscle_electrophysio1.21985541
43MP0005084_abnormal_gallbladder_morpholo1.17405525
44MP0002734_abnormal_mechanical_nocicepti1.17050705
45MP0008007_abnormal_cellular_replicative1.15762527
46MP0008789_abnormal_olfactory_epithelium1.14827362
47MP0003137_abnormal_impulse_conducting1.11696498
48MP0002751_abnormal_autonomic_nervous1.09394981
49MP0001188_hyperpigmentation1.07743318
50MP0003283_abnormal_digestive_organ1.05074368
51MP0003806_abnormal_nucleotide_metabolis1.02201205
52MP0002090_abnormal_vision1.00728916
53MP0005075_abnormal_melanosome_morpholog0.99327397
54MP0005380_embryogenesis_phenotype0.97505883
55MP0001672_abnormal_embryogenesis/_devel0.97505883
56MP0002111_abnormal_tail_morphology0.93771899
57MP0003121_genomic_imprinting0.93570433
58MP0002085_abnormal_embryonic_tissue0.93514143
59MP0003718_maternal_effect0.92812405
60MP0003787_abnormal_imprinting0.88903540
61MP0000462_abnormal_digestive_system0.88590214
62MP0003385_abnormal_body_wall0.87470794
63MP0002396_abnormal_hematopoietic_system0.83615320
64MP0001177_atelectasis0.82339303
65MP0003111_abnormal_nucleus_morphology0.81586510
66MP0004215_abnormal_myocardial_fiber0.80848214
67MP0003936_abnormal_reproductive_system0.80198482
68MP0001730_embryonic_growth_arrest0.79829600
69MP0002210_abnormal_sex_determination0.77578181
70MP0003943_abnormal_hepatobiliary_system0.74466351
71MP0000647_abnormal_sebaceous_gland0.74157396
72MP0002138_abnormal_hepatobiliary_system0.72462056
73MP0001929_abnormal_gametogenesis0.70063038
74MP0000428_abnormal_craniofacial_morphol0.69480150
75MP0002163_abnormal_gland_morphology0.68264922
76MP0001119_abnormal_female_reproductive0.68220573
77MP0000653_abnormal_sex_gland0.66879939
78MP0003279_aneurysm0.66038810
79MP0003077_abnormal_cell_cycle0.64580419
80MP0002109_abnormal_limb_morphology0.63654021
81MP0000470_abnormal_stomach_morphology0.63205432
82MP0009384_cardiac_valve_regurgitation0.62488110
83MP0009672_abnormal_birth_weight0.62173697
84MP0003984_embryonic_growth_retardation0.61852788
85MP0002088_abnormal_embryonic_growth/wei0.61777274
86MP0001145_abnormal_male_reproductive0.60141031
87MP0005551_abnormal_eye_electrophysiolog0.59997959
88MP0005423_abnormal_somatic_nervous0.58969055
89MP0000749_muscle_degeneration0.56977063
90MP0005391_vision/eye_phenotype0.55473669
91MP0000427_abnormal_hair_cycle0.54245293
92MP0002067_abnormal_sensory_capabilities0.53736804
93MP0009745_abnormal_behavioral_response0.53429994
94MP0005253_abnormal_eye_physiology0.52331503
95MP0004270_analgesia0.51847140
96MP0001666_abnormal_nutrient_absorption0.50084473
97MP0001697_abnormal_embryo_size0.48832627
98MP0003646_muscle_fatigue0.48556898
99MP0004197_abnormal_fetal_growth/weight/0.48051528
100MP0000383_abnormal_hair_follicle0.47843573

Predicted human phenotypes

RankGene SetZ-score
1Septo-optic dysplasia (HP:0100842)3.65803723
2Abnormal umbilical cord blood vessels (HP:0011403)3.55498934
3Single umbilical artery (HP:0001195)3.55498934
4Abnormality of the fetal cardiovascular system (HP:0010948)3.55498934
5Abdominal situs inversus (HP:0003363)3.54565310
6Abnormality of abdominal situs (HP:0011620)3.54565310
7Methylmalonic acidemia (HP:0002912)3.53440622
8Hypoplastic pelvis (HP:0008839)3.52146911
9Double outlet right ventricle (HP:0001719)3.34469735
10Congenital malformation of the right heart (HP:0011723)3.34469735
11Progressive inability to walk (HP:0002505)3.29850875
12Abnormality of the parathyroid morphology (HP:0011766)3.28113473
13Gonadal dysgenesis (HP:0000133)3.17440763
14Oligodactyly (hands) (HP:0001180)3.07304295
15Absent radius (HP:0003974)2.97055678
16Anal stenosis (HP:0002025)2.91550004
17Labial hypoplasia (HP:0000066)2.90358423
18Abnormality of the labia minora (HP:0012880)2.88774402
19Aplasia involving forearm bones (HP:0009822)2.82705943
20Absent forearm bone (HP:0003953)2.82705943
21Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.82501646
22Hypoplastic female external genitalia (HP:0012815)2.70474953
23Abnormal biliary tract physiology (HP:0012439)2.68838532
24Bile duct proliferation (HP:0001408)2.68838532
25Gonadotropin excess (HP:0000837)2.65537192
26Aplasia/Hypoplasia of the uvula (HP:0010293)2.61171537
27Abnormal pancreas size (HP:0012094)2.58864586
28Abnormality of chromosome stability (HP:0003220)2.57040249
29Methylmalonic aciduria (HP:0012120)2.53580609
30Abnormality of methionine metabolism (HP:0010901)2.50356077
31Horseshoe kidney (HP:0000085)2.45114137
32Abnormal lung lobation (HP:0002101)2.43889001
33Asplenia (HP:0001746)2.42339078
34Bifid tongue (HP:0010297)2.38946090
35Volvulus (HP:0002580)2.33902112
36Chin dimple (HP:0010751)2.32838762
37Abnormality of the umbilical cord (HP:0010881)2.32095030
38Rectal fistula (HP:0100590)2.31304072
39Rectovaginal fistula (HP:0000143)2.31304072
40Birth length less than 3rd percentile (HP:0003561)2.30566860
41Aplasia/hypoplasia of the humerus (HP:0006507)2.28745521
42Aplasia/Hypoplasia of the spleen (HP:0010451)2.28667370
43Optic nerve hypoplasia (HP:0000609)2.26644024
44Meckel diverticulum (HP:0002245)2.25675010
45Anophthalmia (HP:0000528)2.21385027
46Abnormality of aspartate family amino acid metabolism (HP:0010899)2.19855556
47Adactyly (HP:0009776)2.19818159
48Abolished electroretinogram (ERG) (HP:0000550)2.18578181
49Abnormality of the vitamin B12 metabolism (HP:0004341)2.18463829
50Intestinal atresia (HP:0011100)2.17236417
51Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.17212022
52True hermaphroditism (HP:0010459)2.16763092
53Neoplasm of the adrenal gland (HP:0100631)2.14147995
54Abnormality of the septum pellucidum (HP:0007375)2.13691293
55Hypomagnesemia (HP:0002917)2.13083846
56Abnormality of the ileum (HP:0001549)2.12867083
57Hydroxyprolinuria (HP:0003080)2.11140042
58Abnormality of proline metabolism (HP:0010907)2.11140042
59Short humerus (HP:0005792)2.09261085
60Abnormality of the labia (HP:0000058)2.06936078
61Abnormal hair whorl (HP:0010721)2.06613834
62Inability to walk (HP:0002540)2.05169725
63Amelogenesis imperfecta (HP:0000705)2.04360932
64Short hallux (HP:0010109)2.01325289
65Carpal bone hypoplasia (HP:0001498)2.00884567
66Abnormality of vitamin B metabolism (HP:0004340)1.99960061
67Prominent supraorbital ridges (HP:0000336)1.99053953
68Aqueductal stenosis (HP:0002410)1.98056745
69Pancreatic cysts (HP:0001737)1.97913297
70Preaxial foot polydactyly (HP:0001841)1.97043836
71Multiple enchondromatosis (HP:0005701)1.96961419
72Abnormality of midbrain morphology (HP:0002418)1.96711110
73Molar tooth sign on MRI (HP:0002419)1.96711110
74Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.96122079
75Absent septum pellucidum (HP:0001331)1.95574030
76Pancreatic fibrosis (HP:0100732)1.94676165
77Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.93513352
78Colon cancer (HP:0003003)1.91852301
79Short middle phalanx of the 5th finger (HP:0004220)1.91377337
80Sex reversal (HP:0012245)1.90642090
81Abnormal sex determination (HP:0012244)1.90642090
82Aplasia/Hypoplasia of the hallux (HP:0008362)1.89824523
83Increased number of teeth (HP:0011069)1.88396781
84Abnormalities of placenta or umbilical cord (HP:0001194)1.87199498
85Abnormality of homocysteine metabolism (HP:0010919)1.86974164
86Homocystinuria (HP:0002156)1.86974164
87Anencephaly (HP:0002323)1.86706272
88Congenital, generalized hypertrichosis (HP:0004540)1.85218486
89Abnormality of the duodenum (HP:0002246)1.84738140
90Hypoplastic labia majora (HP:0000059)1.84662729
91Abnormality of the preputium (HP:0100587)1.83967884
92Small hand (HP:0200055)1.83920516
93Dandy-Walker malformation (HP:0001305)1.83494419
94Ependymoma (HP:0002888)1.83402927
95Esophageal atresia (HP:0002032)1.81021932
96Facial diplegia (HP:0001349)1.80343293
97Stenosis of the external auditory canal (HP:0000402)1.80329993
98Oligodactyly (HP:0012165)1.79588219
99Vaginal atresia (HP:0000148)1.78557826
100Intestinal fistula (HP:0100819)1.77347764

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B6.25344976
2PBK4.51817798
3BMPR1B4.05627336
4TRIM283.62729921
5ERBB43.14868526
6TNIK2.91378707
7MST42.73450881
8MKNK22.40689718
9WNK32.31036638
10ERBB32.18105291
11PLK42.06833428
12PNCK2.03639409
13TGFBR11.93869798
14BRSK21.90679380
15NUAK11.81877840
16EIF2AK31.79801730
17TXK1.75937534
18PLK31.72596712
19TSSK61.70558911
20SIK31.67788947
21PRKD31.63071082
22TTK1.60486871
23MKNK11.60471685
24PLK21.60205187
25BUB11.57400777
26EIF2AK11.51500145
27NEK11.51199827
28GRK11.41485115
29STK101.40789078
30BCR1.32051209
31ZAK1.21103973
32INSRR1.17419139
33VRK21.13956819
34FLT31.13181655
35CDC71.12215856
36BRSK11.07751541
37WEE11.07447261
38VRK11.07205545
39EPHA41.04011740
40TGFBR21.03959789
41PDK21.02897806
42STK31.01544437
43MAPK130.97659547
44ADRBK10.97606822
45PKN20.96208912
46WNK40.87390126
47OXSR10.85104114
48MAP3K90.84059624
49PLK10.83291982
50IRAK20.81902182
51MAP4K20.80241895
52CSNK1G10.79097917
53EIF2AK20.77614172
54MELK0.76381806
55ADRBK20.73866381
56TEC0.69529747
57IRAK10.67178691
58FRK0.67092591
59NME10.66672500
60CASK0.59122708
61STK390.57793541
62TIE10.56189158
63MAP3K120.54532492
64PINK10.53826915
65MAPKAPK30.53527073
66FGFR10.53434335
67DAPK20.52584532
68MAP3K40.51823248
69NLK0.49385467
70CSNK1G20.49260115
71DAPK10.47153195
72PRKCQ0.45697175
73SRPK10.45501690
74MINK10.43600038
75MARK30.42036587
76STK240.41539683
77PRKCE0.39341692
78CHEK20.37608034
79ATR0.34879636
80CAMK1G0.34096496
81PRKCG0.32390228
82ATM0.32017778
83CSNK1G30.30449779
84TAF10.26850539
85MATK0.23468431
86FER0.21122507
87EPHA20.19905514
88ALK0.19679735
89BCKDK0.19397348
90FGR0.19025425
91PASK0.18377924
92ITK0.16176238
93BRD40.16166896
94MAP3K80.15773472
95PRKCD0.14959132
96CSNK1A10.14380854
97MAP2K70.13794172
98STK40.13545374
99ABL10.13195592
100CAMK2A0.12570240

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.81231247
2Steroid biosynthesis_Homo sapiens_hsa001003.47896709
3Propanoate metabolism_Homo sapiens_hsa006403.38493186
4Homologous recombination_Homo sapiens_hsa034402.86197446
5Protein export_Homo sapiens_hsa030602.67417494
6Mismatch repair_Homo sapiens_hsa034302.49024274
7Butanoate metabolism_Homo sapiens_hsa006502.45380643
8Pyruvate metabolism_Homo sapiens_hsa006202.27287580
9Fanconi anemia pathway_Homo sapiens_hsa034602.27135014
10Non-homologous end-joining_Homo sapiens_hsa034502.23868392
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.21486041
12Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.01177923
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.94303584
14Basal transcription factors_Homo sapiens_hsa030221.90951503
15DNA replication_Homo sapiens_hsa030301.90802459
16Vitamin digestion and absorption_Homo sapiens_hsa049771.76908580
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.76427949
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.68961371
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.67775498
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.66983466
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.64477428
22Cysteine and methionine metabolism_Homo sapiens_hsa002701.63483242
23Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.60498370
24Glutathione metabolism_Homo sapiens_hsa004801.58296959
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.57214010
26Wnt signaling pathway_Homo sapiens_hsa043101.56351098
27RNA degradation_Homo sapiens_hsa030181.54928867
28RNA transport_Homo sapiens_hsa030131.50695786
29Fatty acid elongation_Homo sapiens_hsa000621.47845697
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.44944796
31Cell cycle_Homo sapiens_hsa041101.33818149
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.33212932
33One carbon pool by folate_Homo sapiens_hsa006701.32692852
34RNA polymerase_Homo sapiens_hsa030201.30788884
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.30290921
36Fatty acid metabolism_Homo sapiens_hsa012121.29197036
37Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.17939810
38Chemical carcinogenesis_Homo sapiens_hsa052041.16261966
39Peroxisome_Homo sapiens_hsa041461.11679682
40TGF-beta signaling pathway_Homo sapiens_hsa043501.09127063
41Nucleotide excision repair_Homo sapiens_hsa034201.09025986
42Selenocompound metabolism_Homo sapiens_hsa004501.08640248
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.06226083
44Tryptophan metabolism_Homo sapiens_hsa003801.05238239
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02576492
46Hippo signaling pathway_Homo sapiens_hsa043901.00967109
47Caffeine metabolism_Homo sapiens_hsa002321.00531890
48Nicotine addiction_Homo sapiens_hsa050330.97209224
49Retinol metabolism_Homo sapiens_hsa008300.97087750
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.96423483
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.91830960
52Basal cell carcinoma_Homo sapiens_hsa052170.90993172
53Fatty acid degradation_Homo sapiens_hsa000710.90654727
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.90349316
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.89952522
56Phototransduction_Homo sapiens_hsa047440.88118870
57Parkinsons disease_Homo sapiens_hsa050120.87679731
58p53 signaling pathway_Homo sapiens_hsa041150.86030549
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85010436
60Purine metabolism_Homo sapiens_hsa002300.79447687
61Pentose and glucuronate interconversions_Homo sapiens_hsa000400.78424290
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.77917680
63Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.76645742
64Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.73022444
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67612617
66Oocyte meiosis_Homo sapiens_hsa041140.64940564
67Primary bile acid biosynthesis_Homo sapiens_hsa001200.64170127
68Oxidative phosphorylation_Homo sapiens_hsa001900.63451156
69Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62124701
70Metabolic pathways_Homo sapiens_hsa011000.61976086
71Hedgehog signaling pathway_Homo sapiens_hsa043400.59834095
72Base excision repair_Homo sapiens_hsa034100.59441633
73Carbon metabolism_Homo sapiens_hsa012000.59394222
74beta-Alanine metabolism_Homo sapiens_hsa004100.53811062
75Huntingtons disease_Homo sapiens_hsa050160.50355860
76Pyrimidine metabolism_Homo sapiens_hsa002400.50111418
77Maturity onset diabetes of the young_Homo sapiens_hsa049500.48210377
78mRNA surveillance pathway_Homo sapiens_hsa030150.44882669
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44398575
80Starch and sucrose metabolism_Homo sapiens_hsa005000.43302741
81Folate biosynthesis_Homo sapiens_hsa007900.41680569
82Nitrogen metabolism_Homo sapiens_hsa009100.41389612
83Vitamin B6 metabolism_Homo sapiens_hsa007500.40422840
84Spliceosome_Homo sapiens_hsa030400.40284868
85N-Glycan biosynthesis_Homo sapiens_hsa005100.40004297
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.37835934
87Fat digestion and absorption_Homo sapiens_hsa049750.37057933
88Calcium signaling pathway_Homo sapiens_hsa040200.37043060
89Tight junction_Homo sapiens_hsa045300.35751188
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33622130
91Gastric acid secretion_Homo sapiens_hsa049710.33563059
92Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.33558223
93* Olfactory transduction_Homo sapiens_hsa047400.30811036
94Taste transduction_Homo sapiens_hsa047420.29984518
95Serotonergic synapse_Homo sapiens_hsa047260.20851932
96Arginine and proline metabolism_Homo sapiens_hsa003300.20603021
97Alzheimers disease_Homo sapiens_hsa050100.20590045
98Melanoma_Homo sapiens_hsa052180.20446738
99Ether lipid metabolism_Homo sapiens_hsa005650.19450517
100Glutamatergic synapse_Homo sapiens_hsa047240.19212495

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