OXCT2P1

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
1sperm motility (GO:0030317)9.12990425
2chromosome condensation (GO:0030261)8.88833943
3sperm capacitation (GO:0048240)8.43073398
4DNA packaging (GO:0006323)8.23213495
5plasma membrane fusion (GO:0045026)7.81502845
6microtubule depolymerization (GO:0007019)7.29656971
7sperm-egg recognition (GO:0035036)6.94749757
8cellular ketone body metabolic process (GO:0046950)6.93419950
9negative regulation of inclusion body assembly (GO:0090084)6.92361970
10spermatid nucleus differentiation (GO:0007289)6.83111042
11binding of sperm to zona pellucida (GO:0007339)6.82108386
12spermatid development (GO:0007286)6.76278015
13sexual reproduction (GO:0019953)6.42158089
14single strand break repair (GO:0000012)6.39463730
15response to pheromone (GO:0019236)6.35840235
16rRNA methylation (GO:0031167)6.35823322
17multicellular organism reproduction (GO:0032504)6.28029391
18ketone body metabolic process (GO:1902224)6.08686780
19reproduction (GO:0000003)6.08384278
20cell-cell recognition (GO:0009988)5.58114798
21microtubule severing (GO:0051013)5.56452426
22calcium ion-dependent exocytosis (GO:0017156)5.38505407
23rRNA modification (GO:0000154)5.23890017
24phosphatidylethanolamine biosynthetic process (GO:0006646)5.02338268
25microtubule polymerization or depolymerization (GO:0031109)4.99865178
26spermatogenesis (GO:0007283)4.71925880
27male gamete generation (GO:0048232)4.69703405
28regulation of inclusion body assembly (GO:0090083)4.61600297
29phosphatidylethanolamine metabolic process (GO:0046337)4.44852943
30protein polyglutamylation (GO:0018095)4.40804533
31cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.38898050
32kidney mesenchyme development (GO:0072074)4.36270654
33metanephric mesenchyme development (GO:0072075)4.31064571
34gamete generation (GO:0007276)4.27131740
35single fertilization (GO:0007338)4.12065254
36peptidyl-proline hydroxylation (GO:0019511)4.00549639
37mesenchymal cell differentiation involved in renal system development (GO:2001012)3.85224332
38mesenchymal cell differentiation involved in kidney development (GO:0072161)3.85224332
39chromatin silencing (GO:0006342)3.79071050
40glomerular visceral epithelial cell development (GO:0072015)3.74617129
41antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.70192197
42cellular response to pH (GO:0071467)3.68597422
43outer ear morphogenesis (GO:0042473)3.67267076
44germ cell development (GO:0007281)3.66885192
45tooth mineralization (GO:0034505)3.64430409
46membrane protein intracellular domain proteolysis (GO:0031293)3.63674159
47response to acidic pH (GO:0010447)3.60573642
48regulation of Rab GTPase activity (GO:0032313)3.58430407
49positive regulation of Rab GTPase activity (GO:0032851)3.58430407
50coenzyme catabolic process (GO:0009109)3.55007266
51cellular process involved in reproduction in multicellular organism (GO:0022412)3.54866144
52multicellular organismal reproductive process (GO:0048609)3.53553516
53regulation of transcription involved in cell fate commitment (GO:0060850)3.47746712
54glomerular epithelial cell development (GO:0072310)3.47550573
55protein targeting to Golgi (GO:0000042)3.41684899
56nucleus organization (GO:0006997)3.36331851
57axonemal dynein complex assembly (GO:0070286)3.32817987
58hyaluronan catabolic process (GO:0030214)3.30215441
59glycerol ether metabolic process (GO:0006662)3.27820351
60negative regulation of Rho protein signal transduction (GO:0035024)3.25137148
61cell proliferation involved in metanephros development (GO:0072203)3.22373434
62homeostasis of number of cells within a tissue (GO:0048873)3.22243901
63membrane protein ectodomain proteolysis (GO:0006509)3.22134916
64cell differentiation involved in metanephros development (GO:0072202)3.21609312
65protein depolymerization (GO:0051261)3.19927013
66protein-DNA complex disassembly (GO:0032986)3.19894121
67nucleosome disassembly (GO:0006337)3.19894121
68retrograde transport, vesicle recycling within Golgi (GO:0000301)3.13458640
69mitotic G1 DNA damage checkpoint (GO:0031571)3.12664649
70protein retention in ER lumen (GO:0006621)3.12436712
71protein hydroxylation (GO:0018126)3.12098708
72chaperone-mediated protein complex assembly (GO:0051131)3.11302110
73cochlea morphogenesis (GO:0090103)3.07325272
74embryonic skeletal joint morphogenesis (GO:0060272)3.07155333
75cell volume homeostasis (GO:0006884)3.06621577
76establishment of protein localization to Golgi (GO:0072600)3.05802527
77fertilization (GO:0009566)3.05491775
784-hydroxyproline metabolic process (GO:0019471)3.04795695
79cell wall macromolecule catabolic process (GO:0016998)3.04690795
80positive regulation of endothelial cell differentiation (GO:0045603)3.02866082
81pattern specification involved in kidney development (GO:0061004)2.98449851
82ether metabolic process (GO:0018904)2.95650551
83motile cilium assembly (GO:0044458)2.94442933
84maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.94176965
85regulation of protein polyubiquitination (GO:1902914)2.90699402
86multicellular organismal movement (GO:0050879)2.89151003
87musculoskeletal movement (GO:0050881)2.89151003
88actin filament capping (GO:0051693)2.87101096
89polyamine biosynthetic process (GO:0006596)2.86547536
90cell migration involved in heart development (GO:0060973)2.82690200
91peptidyl-threonine dephosphorylation (GO:0035970)2.81360571
92positive regulation of myotube differentiation (GO:0010831)2.81354927
93regulation of T-helper 2 cell differentiation (GO:0045628)2.81276791
94DNA conformation change (GO:0071103)2.80286859
95mitotic G1/S transition checkpoint (GO:0044819)2.80244580
96establishment of apical/basal cell polarity (GO:0035089)2.77158000
97regulation of cilium movement (GO:0003352)2.72731473
98positive regulation of macrophage activation (GO:0043032)2.72482384
99acrosome reaction (GO:0007340)10.5258581
100fusion of sperm to egg plasma membrane (GO:0007342)10.3208347

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.53984352
2MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human4.49730942
3LXR_22292898_ChIP-Seq_THP-1_Human3.09014178
4STAT6_21828071_ChIP-Seq_BEAS2B_Human2.95893781
5RARG_19884340_ChIP-ChIP_MEFs_Mouse2.64002920
6ELF1_20517297_ChIP-Seq_JURKAT_Human2.55429191
7THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.41624874
8CTCF_27219007_Chip-Seq_Bcells_Human2.34187642
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.22800305
10TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.11167572
11RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.07688030
12SMC4_20622854_ChIP-Seq_HELA_Human1.92612491
13P68_20966046_ChIP-Seq_HELA_Human1.85173500
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.83793517
15TP63_22573176_ChIP-Seq_HFKS_Human1.80274009
16YY1_22570637_ChIP-Seq_MALME-3M_Human1.78235400
17SA1_27219007_Chip-Seq_ERYTHROID_Human1.76301847
18E2F1_20622854_ChIP-Seq_HELA_Human1.74279720
19BCOR_27268052_Chip-Seq_Bcells_Human1.73662410
20BCL6_27268052_Chip-Seq_Bcells_Human1.70015445
21TP53_22127205_ChIP-Seq_IMR90_Human1.68522659
22UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.68101282
23RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.62401419
24TP53_18474530_ChIP-ChIP_U2OS_Human1.59656135
25ELK3_25401928_ChIP-Seq_HUVEC_Human1.58699569
26TDRD3_21172665_ChIP-Seq_MCF-7_Human1.58126877
27RAC3_21632823_ChIP-Seq_H3396_Human1.56597815
28UBF1/2_26484160_Chip-Seq_HMECs_Human1.55691766
29CTCF_20526341_ChIP-Seq_ESCs_Human1.54751459
30PHF8_20622854_ChIP-Seq_HELA_Human1.52903459
31TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52853992
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.52701819
33TET1_21451524_ChIP-Seq_MESCs_Mouse1.49877485
34DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.48314433
35CSB_26484114_Chip-Seq_FIBROBLAST_Human1.48187553
36VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.47581928
37NFIB_24661679_ChIP-Seq_LUNG_Mouse1.47544632
38P63_26484246_Chip-Seq_KERATINOCYTES_Human1.44549343
39PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.41855160
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41127920
41SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.39844761
42SA1_27219007_Chip-Seq_Bcells_Human1.39665691
43EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.39455282
44EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.39449251
45JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37557253
46RACK7_27058665_Chip-Seq_MCF-7_Human1.33102879
47EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.31839351
48CTCF_21964334_Chip-Seq_Bcells_Human1.31717127
49NANOG_20526341_ChIP-Seq_ESCs_Human1.30495644
50TP53_23651856_ChIP-Seq_MEFs_Mouse1.29392865
51TRIM28_21343339_ChIP-Seq_HEK293_Human1.28364951
52DROSHA_22980978_ChIP-Seq_HELA_Human1.27702922
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.27488209
54TET1_21490601_ChIP-Seq_MESCs_Mouse1.26868936
55P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.25306175
56FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.22784867
57P300_27268052_Chip-Seq_Bcells_Human1.22189105
58P300_27058665_Chip-Seq_ZR-75-30cells_Human1.21689929
59SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21349502
60RARA_24833708_ChIP-Seq_LIVER_Mouse1.20656042
61RUNX1_26923725_Chip-Seq_HPCs_Mouse1.20605238
62CTCF_27219007_Chip-Seq_ERYTHROID_Human1.17698700
63ERA_21632823_ChIP-Seq_H3396_Human1.17638750
64MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.17455521
65ATF3_27146783_Chip-Seq_COLON_Human1.17120863
66HIF1A_21447827_ChIP-Seq_MCF-7_Human1.15039188
67JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.14873606
68FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14263797
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12631513
70TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12631513
71KDM2B_26808549_Chip-Seq_DND41_Human1.12565448
72TP53_20018659_ChIP-ChIP_R1E_Mouse1.11329752
73CJUN_26792858_Chip-Seq_BT549_Human1.10752812
74SUZ12_27294783_Chip-Seq_ESCs_Mouse1.10160357
75KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.09830834
76TAF2_19829295_ChIP-Seq_ESCs_Human1.08001867
77SOX11_22085726_ChIP-Seq_ESNs_Mouse1.06994877
78KDM2B_26808549_Chip-Seq_K562_Human1.06440744
79NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.04897798
80RAD21_21589869_ChIP-Seq_MESCs_Mouse1.04808260
81ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.04664682
82RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02826925
83GATA1_19941826_ChIP-Seq_K562_Human1.02441310
84RUNX1_27514584_Chip-Seq_MCF-7_Human1.01488744
85MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse1.00624450
86ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.99976520
87HNFA_21074721_ChIP-Seq_CACO-2_Human0.99976368
88ARNT_22903824_ChIP-Seq_MCF-7_Human0.99164259
89EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97894800
90MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97608010
91OCT4_20526341_ChIP-Seq_ESCs_Human0.96548871
92CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.96030383
93CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.96008240
94EED_16625203_ChIP-ChIP_MESCs_Mouse0.95477573
95KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.94080359
96TP63_19390658_ChIP-ChIP_HaCaT_Human0.92446966
97P53_21459846_ChIP-Seq_SAOS-2_Human0.91490679
98EZH2_27294783_Chip-Seq_ESCs_Mouse0.91483813
99TP63_17297297_ChIP-ChIP_HaCaT_Human0.91470772
100FOXP1_21924763_ChIP-Seq_HESCs_Human0.90727197

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.38707533
2MP0008438_abnormal_cutaneous_collagen4.31799814
3MP0005670_abnormal_white_adipose4.07573592
4MP0001348_abnormal_lacrimal_gland3.50132455
5MP0003705_abnormal_hypodermis_morpholog3.35543275
6MP0005377_hearing/vestibular/ear_phenot2.96643098
7MP0003878_abnormal_ear_physiology2.96643098
8MP0003698_abnormal_male_reproductive2.90822459
9MP0004272_abnormal_basement_membrane2.89737150
10MP0005623_abnormal_meninges_morphology2.67740781
11MP0005503_abnormal_tendon_morphology2.63747590
12MP0001929_abnormal_gametogenesis2.47415331
13MP0000678_abnormal_parathyroid_gland2.43718586
14MP0005257_abnormal_intraocular_pressure2.31939821
15MP0004510_myositis2.21717553
16MP0003279_aneurysm2.19531496
17MP0003091_abnormal_cell_migration2.04637084
18MP0009053_abnormal_anal_canal2.04095417
19MP0009384_cardiac_valve_regurgitation1.90865680
20MP0005275_abnormal_skin_tensile1.79525287
21MP0002161_abnormal_fertility/fecundity1.78567562
22MP0010368_abnormal_lymphatic_system1.77422831
23MP0000534_abnormal_ureter_morphology1.60076159
24MP0002138_abnormal_hepatobiliary_system1.59063378
25MP0003950_abnormal_plasma_membrane1.57924891
26MP0003566_abnormal_cell_adhesion1.56126159
27MP0001958_emphysema1.55406483
28MP0000003_abnormal_adipose_tissue1.40927759
29MP0000049_abnormal_middle_ear1.35954483
30MP0001849_ear_inflammation1.33162832
31MP0003718_maternal_effect1.31466892
32MP0002249_abnormal_larynx_morphology1.30362560
33MP0004233_abnormal_muscle_weight1.29601362
34MP0005023_abnormal_wound_healing1.28023813
35MP0003941_abnormal_skin_development1.26848216
36MP0000751_myopathy1.26740255
37MP0005595_abnormal_vascular_smooth1.25588904
38MP0000767_abnormal_smooth_muscle1.24588363
39MP0000733_abnormal_muscle_development1.21583836
40MP0001299_abnormal_eye_distance/1.16272897
41MP0002132_abnormal_respiratory_system1.13602700
42MP0002295_abnormal_pulmonary_circulatio1.12109711
43MP0002234_abnormal_pharynx_morphology1.11055983
44MP0002060_abnormal_skin_morphology1.10132913
45MP0001879_abnormal_lymphatic_vessel1.07242953
46MP0002282_abnormal_trachea_morphology1.05827249
47MP0002127_abnormal_cardiovascular_syste0.95533536
48MP0003011_delayed_dark_adaptation0.95393470
49MP0000681_abnormal_thyroid_gland0.93392524
50MP0009840_abnormal_foam_cell0.92369102
51MP0002254_reproductive_system_inflammat0.91718034
52MP0003942_abnormal_urinary_system0.91324370
53MP0000013_abnormal_adipose_tissue0.91308050
54MP0002108_abnormal_muscle_morphology0.90324868
55MP0001542_abnormal_bone_strength0.87080895
56MP0003283_abnormal_digestive_organ0.86984887
57MP0005508_abnormal_skeleton_morphology0.86307496
58MP0000762_abnormal_tongue_morphology0.86046674
59MP0002210_abnormal_sex_determination0.85055765
60MP0005395_other_phenotype0.82465011
61MP0000467_abnormal_esophagus_morphology0.81836292
62MP0009250_abnormal_appendicular_skeleto0.79568719
63MP0001614_abnormal_blood_vessel0.78938444
64MP0001145_abnormal_male_reproductive0.77814879
65MP0005375_adipose_tissue_phenotype0.77585993
66MP0000163_abnormal_cartilage_morphology0.77128924
67MP0005310_abnormal_salivary_gland0.76055635
68MP0004084_abnormal_cardiac_muscle0.71453374
69MP0002896_abnormal_bone_mineralization0.71256401
70MP0005451_abnormal_body_composition0.70792350
71MP0000428_abnormal_craniofacial_morphol0.69819667
72MP0001765_abnormal_ion_homeostasis0.69085663
73MP0001881_abnormal_mammary_gland0.67503473
74MP0004036_abnormal_muscle_relaxation0.66702810
75MP0000759_abnormal_skeletal_muscle0.66269938
76MP0000653_abnormal_sex_gland0.63959948
77MP0005390_skeleton_phenotype0.62252760
78MP0000249_abnormal_blood_vessel0.62112233
79MP0004085_abnormal_heartbeat0.61963164
80MP0001243_abnormal_dermal_layer0.61435365
81MP0002933_joint_inflammation0.59309763
82MP0003077_abnormal_cell_cycle0.59235493
83MP0003385_abnormal_body_wall0.58696352
84MP0002925_abnormal_cardiovascular_devel0.55793145
85MP0009697_abnormal_copulation0.55556643
86MP0000026_abnormal_inner_ear0.55120459
87MP0002269_muscular_atrophy0.54854045
88MP0008874_decreased_physiological_sensi0.54420517
89MP0000613_abnormal_salivary_gland0.53241966
90MP0002115_abnormal_skeleton_extremities0.52423542
91MP0003448_altered_tumor_morphology0.49970046
92MP0002932_abnormal_joint_morphology0.49946951
93MP0003115_abnormal_respiratory_system0.48463448
94MP0000470_abnormal_stomach_morphology0.46885302
95MP0009115_abnormal_fat_cell0.46838559
96MP0008569_lethality_at_weaning0.46541268
97MP0002085_abnormal_embryonic_tissue0.45949839
98MP0001270_distended_abdomen0.44837839
99MP0003879_abnormal_hair_cell0.44743509
100MP0002998_abnormal_bone_remodeling0.44370511

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)6.74166819
2Premature rupture of membranes (HP:0001788)5.43996965
3Asymmetric septal hypertrophy (HP:0001670)4.38375108
4Protrusio acetabuli (HP:0003179)4.24096459
5Bell-shaped thorax (HP:0001591)3.87511911
6Atrophic scars (HP:0001075)3.78440214
7Ankle contracture (HP:0006466)3.48909227
8Resting tremor (HP:0002322)3.35509580
9Hypoplastic ischia (HP:0003175)3.33982755
10Bony spicule pigmentary retinopathy (HP:0007737)3.22695087
11Hypoalphalipoproteinemia (HP:0003233)3.20860151
12Hyperkalemia (HP:0002153)3.15864999
13Neonatal short-limb short stature (HP:0008921)3.03815593
14Progressive sensorineural hearing impairment (HP:0000408)2.99048372
15Unilateral renal agenesis (HP:0000122)2.98390062
16Soft skin (HP:0000977)2.88735819
17Attenuation of retinal blood vessels (HP:0007843)2.82458747
18Spinal rigidity (HP:0003306)2.80618366
19Abnormality of the ischium (HP:0003174)2.80006595
20Ectopia lentis (HP:0001083)2.77366724
21Type 1 muscle fiber predominance (HP:0003803)2.73428630
22Abnormality of the nasal mucosa (HP:0000433)2.72146359
23Bladder diverticulum (HP:0000015)2.70247901
24Achilles tendon contracture (HP:0001771)2.69685163
25Enlarged epiphyses (HP:0010580)2.68890173
26Renovascular hypertension (HP:0100817)2.65787652
27Aortic aneurysm (HP:0004942)2.55604967
28Ventricular tachycardia (HP:0004756)2.54038193
29Nasal polyposis (HP:0100582)2.53740474
30Bradycardia (HP:0001662)2.52244280
31Shallow orbits (HP:0000586)2.49753430
32Abnormality of dentin (HP:0010299)2.46083796
33Distal lower limb muscle weakness (HP:0009053)2.40813410
34Flattened epiphyses (HP:0003071)2.38694299
35Abnormality of the Achilles tendon (HP:0005109)2.38030342
36Abnormal rod and cone electroretinograms (HP:0008323)2.37644404
37Insulin resistance (HP:0000855)2.37586048
38Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.35103387
39Azoospermia (HP:0000027)2.29802635
40Aortic dissection (HP:0002647)2.27787904
41Epiphyseal dysplasia (HP:0002656)2.26209711
42Hypertriglyceridemia (HP:0002155)2.24685541
43Follicular hyperkeratosis (HP:0007502)2.23763435
44Fragile skin (HP:0001030)2.23609458
45Genu recurvatum (HP:0002816)2.22540495
46Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.22356319
47Broad metatarsal (HP:0001783)2.22014991
48Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.21825804
49Absent epiphyses (HP:0010577)2.21825804
50Upper limb muscle weakness (HP:0003484)2.21359736
51Infertility (HP:0000789)2.18012631
52Cone-rod dystrophy (HP:0000548)2.17734113
53Wormian bones (HP:0002645)2.16363065
54Hyperextensible skin (HP:0000974)2.11398621
55Abnormality of the acetabulum (HP:0003170)2.09973815
56Facial shape deformation (HP:0011334)2.08744090
57Potter facies (HP:0002009)2.08744090
58Increased connective tissue (HP:0009025)2.07825842
59Atelectasis (HP:0100750)2.07040161
60Blue sclerae (HP:0000592)2.03523253
61Progressive hearing impairment (HP:0001730)2.03259396
62Mildly elevated creatine phosphokinase (HP:0008180)2.00798264
63Cervical subluxation (HP:0003308)2.00489653
64Slender build (HP:0001533)1.99656410
65Broad face (HP:0000283)1.98005664
66Male infertility (HP:0003251)1.96188746
67Protuberant abdomen (HP:0001538)1.93482084
68Abnormal spermatogenesis (HP:0008669)1.91919250
69Absent/shortened dynein arms (HP:0200106)1.91421969
70Dynein arm defect of respiratory motile cilia (HP:0012255)1.91421969
71Upper limb amyotrophy (HP:0009129)1.91016313
72Distal upper limb amyotrophy (HP:0007149)1.91016313
73Flat capital femoral epiphysis (HP:0003370)1.90541899
74Acanthosis nigricans (HP:0000956)1.89794715
75Hyperacusis (HP:0010780)1.89576161
76Osteoarthritis (HP:0002758)1.89331934
77Natal tooth (HP:0000695)1.88844532
78Elbow flexion contracture (HP:0002987)1.88541544
79Emphysema (HP:0002097)1.87645458
80Vascular tortuosity (HP:0004948)1.87111341
81Peritonitis (HP:0002586)1.86839229
82Joint laxity (HP:0001388)1.86402112
83Abnormality of the costochondral junction (HP:0000919)1.86094823
84Overgrowth (HP:0001548)1.85488128
85Abnormality involving the epiphyses of the lower limbs (HP:0006500)1.85051443
86Abnormality of femoral epiphyses (HP:0006499)1.85051443
87Bowel diverticulosis (HP:0005222)1.83477704
88Vertebral compression fractures (HP:0002953)1.82245953
89Hypoplastic left heart (HP:0004383)1.81778712
90Persistence of primary teeth (HP:0006335)1.81727196
91Nuclear cataract (HP:0100018)1.80604971
92Esophageal varix (HP:0002040)1.80566708
93Coronal craniosynostosis (HP:0004440)1.79888568
94Hepatitis (HP:0012115)1.78505037
95Turricephaly (HP:0000262)1.78201818
96Abnormality of the epiphysis of the femoral head (HP:0010574)1.76270793
97Glossoptosis (HP:0000162)1.75790210
98Increased variability in muscle fiber diameter (HP:0003557)1.75669155
99Biconcave vertebral bodies (HP:0004586)1.75625161
100Short nail (HP:0001799)1.75240691

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.00546822
2TESK15.47206690
3PLK44.24730538
4STK383.80676955
5MAP4K22.45719152
6CDK122.28757819
7MYLK2.28644011
8STK38L2.22886286
9SMG12.05744151
10INSRR1.95319315
11PRKD31.91306659
12TTN1.87665821
13PDGFRA1.86651735
14LATS21.73861375
15KSR21.73588455
16MST1R1.72280262
17MAP3K91.61851560
18WNK11.54792787
19BRD41.49200782
20TRIB31.47046734
21NEK91.43621108
22PAK21.43325360
23PDPK11.36822490
24MAP3K81.34709801
25CDK71.33313863
26MET1.31507556
27PNCK1.29719956
28DYRK1B1.29434296
29PIK3CG1.25279173
30ARAF1.22339539
31PTK21.19597645
32RPS6KA21.18393694
33ICK1.16463203
34PLK21.16287884
35IRAK31.11383300
36MOS1.08946727
37PTK2B1.08299750
38PAK41.07738241
39CAMK1G1.04111738
40PRKG21.02851039
41ABL20.98353505
42TIE10.97660801
43EEF2K0.97540846
44LATS10.96391288
45ROCK10.96124393
46PDK10.94926137
47NTRK10.91899562
48BRAF0.90106429
49RPS6KL10.89291512
50RPS6KC10.89291512
51FLT30.88682816
52MTOR0.85807667
53NME20.80317259
54ERN10.80121352
55GRK70.79492699
56RIPK10.79164631
57MAPK110.78165294
58MUSK0.77915750
59AKT20.76259447
60RPS6KA60.69394693
61CDK40.67623195
62PRPF4B0.67455950
63AKT30.63946771
64DAPK30.62871004
65ROCK20.61113046
66MAP3K130.60450917
67MAP2K20.60226692
68TLK10.59811636
69MAPK150.59515426
70PRKD20.59185803
71TGFBR20.59151357
72ZAK0.59114518
73RPS6KA10.54510583
74SIK10.54358489
75MAP2K10.52287663
76MAP3K10.51254175
77AURKA0.50792086
78TAF10.49607089
79CDK90.44957003
80TRPM70.43617241
81PIM20.43230818
82UHMK10.42306433
83ERBB40.39103003
84CHEK10.39098813
85MAP3K20.36525091
86CDC42BPA0.35651240
87MAPK10.34874266
88CDK20.33818217
89MAPK80.33276658
90EPHA20.32195937
91GSK3B0.30673964
92PDGFRB0.29785677
93PAK10.29298593
94MAP3K110.28839244
95DMPK0.26792417
96CDC70.26262740
97PKN20.25218457
98FGFR40.24614593
99KIT0.24288027
100AKT10.23756485

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000728.19493592
2Fatty acid biosynthesis_Homo sapiens_hsa000613.65727655
3ECM-receptor interaction_Homo sapiens_hsa045122.76741508
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.57679954
5Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.33702243
6Focal adhesion_Homo sapiens_hsa045102.06321331
7Butanoate metabolism_Homo sapiens_hsa006502.05432719
8Sulfur relay system_Homo sapiens_hsa041221.81283111
9Viral myocarditis_Homo sapiens_hsa054161.78475906
10Protein digestion and absorption_Homo sapiens_hsa049741.70010115
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.68935491
12Olfactory transduction_Homo sapiens_hsa047401.60992385
13Phenylalanine metabolism_Homo sapiens_hsa003601.43586789
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.43424924
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.41505371
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.35023422
17Selenocompound metabolism_Homo sapiens_hsa004501.31951328
18Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.25201893
19Biosynthesis of amino acids_Homo sapiens_hsa012301.24186231
20Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.21915152
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.20893689
22Allograft rejection_Homo sapiens_hsa053301.20032337
23Small cell lung cancer_Homo sapiens_hsa052221.18084155
24Bladder cancer_Homo sapiens_hsa052191.17874033
25Hedgehog signaling pathway_Homo sapiens_hsa043401.17127040
26Systemic lupus erythematosus_Homo sapiens_hsa053221.15099229
27Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.14843952
28Fatty acid degradation_Homo sapiens_hsa000711.14659200
29Glycerophospholipid metabolism_Homo sapiens_hsa005641.13896281
30Autoimmune thyroid disease_Homo sapiens_hsa053201.12046955
31Type I diabetes mellitus_Homo sapiens_hsa049401.04793876
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04620143
33Proteoglycans in cancer_Homo sapiens_hsa052051.02951438
34AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.02908327
35Dorso-ventral axis formation_Homo sapiens_hsa043200.97789287
36Viral carcinogenesis_Homo sapiens_hsa052030.97395674
37Arginine biosynthesis_Homo sapiens_hsa002200.96956611
38Arginine and proline metabolism_Homo sapiens_hsa003300.96517286
39Graft-versus-host disease_Homo sapiens_hsa053320.95255103
40Antigen processing and presentation_Homo sapiens_hsa046120.92373133
41Regulation of actin cytoskeleton_Homo sapiens_hsa048100.91314114
42Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.90932082
43Type II diabetes mellitus_Homo sapiens_hsa049300.90685349
44Endocytosis_Homo sapiens_hsa041440.88954434
45Dilated cardiomyopathy_Homo sapiens_hsa054140.88605364
46Alcoholism_Homo sapiens_hsa050340.87203393
47Toxoplasmosis_Homo sapiens_hsa051450.87176240
48Central carbon metabolism in cancer_Homo sapiens_hsa052300.86675678
49Renin-angiotensin system_Homo sapiens_hsa046140.85474658
50Thyroid hormone signaling pathway_Homo sapiens_hsa049190.84409400
51Adipocytokine signaling pathway_Homo sapiens_hsa049200.83338181
52Estrogen signaling pathway_Homo sapiens_hsa049150.79498157
53Influenza A_Homo sapiens_hsa051640.78588115
54RNA transport_Homo sapiens_hsa030130.77809706
55Fatty acid metabolism_Homo sapiens_hsa012120.77611721
56Thyroid cancer_Homo sapiens_hsa052160.77378392
57Vitamin B6 metabolism_Homo sapiens_hsa007500.73224204
58Adherens junction_Homo sapiens_hsa045200.72009064
59Carbon metabolism_Homo sapiens_hsa012000.69533679
60Galactose metabolism_Homo sapiens_hsa000520.67138283
61VEGF signaling pathway_Homo sapiens_hsa043700.66564807
62Tight junction_Homo sapiens_hsa045300.66041324
63MicroRNAs in cancer_Homo sapiens_hsa052060.64624921
64Prostate cancer_Homo sapiens_hsa052150.57683764
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.56806668
66Prion diseases_Homo sapiens_hsa050200.56697534
67Basal cell carcinoma_Homo sapiens_hsa052170.55154843
68Chronic myeloid leukemia_Homo sapiens_hsa052200.54088478
69MAPK signaling pathway_Homo sapiens_hsa040100.54063964
70Intestinal immune network for IgA production_Homo sapiens_hsa046720.53878113
71PI3K-Akt signaling pathway_Homo sapiens_hsa041510.52915456
72cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52680291
73Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47447608
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.47321550
75Glycosaminoglycan degradation_Homo sapiens_hsa005310.46431397
76PPAR signaling pathway_Homo sapiens_hsa033200.46157690
77Acute myeloid leukemia_Homo sapiens_hsa052210.45920785
78Amoebiasis_Homo sapiens_hsa051460.44882653
79Tyrosine metabolism_Homo sapiens_hsa003500.43934859
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.43700889
81B cell receptor signaling pathway_Homo sapiens_hsa046620.43699089
82Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43214009
83Lysine degradation_Homo sapiens_hsa003100.41858269
84Melanoma_Homo sapiens_hsa052180.41726370
85Inositol phosphate metabolism_Homo sapiens_hsa005620.41307680
86Hippo signaling pathway_Homo sapiens_hsa043900.41048467
87HTLV-I infection_Homo sapiens_hsa051660.38488896
88Calcium signaling pathway_Homo sapiens_hsa040200.37875438
89Pathways in cancer_Homo sapiens_hsa052000.35820971
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33227698
91cAMP signaling pathway_Homo sapiens_hsa040240.33217827
92Bile secretion_Homo sapiens_hsa049760.33129291
93Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.32505639
94Melanogenesis_Homo sapiens_hsa049160.31515952
95Apoptosis_Homo sapiens_hsa042100.31397467
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.29103510
97Phospholipase D signaling pathway_Homo sapiens_hsa040720.29045174
98Primary bile acid biosynthesis_Homo sapiens_hsa001200.27979459
99Glioma_Homo sapiens_hsa052140.25269238
100Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.24207094

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