FAM46D

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: Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane fusion (GO:0045026)9.87756215
2cell-cell recognition (GO:0009988)9.35377585
3binding of sperm to zona pellucida (GO:0007339)9.23637192
4axonemal dynein complex assembly (GO:0070286)9.12740197
5reproduction (GO:0000003)8.86797892
6male meiosis (GO:0007140)8.28121455
7acrosome reaction (GO:0007340)8.20025303
8epithelial cilium movement (GO:0003351)7.93234662
9spermatid development (GO:0007286)7.79050984
10piRNA metabolic process (GO:0034587)7.41630949
11regulation of cilium movement (GO:0003352)7.22398122
12synaptonemal complex organization (GO:0070193)7.19216615
13motile cilium assembly (GO:0044458)7.10633510
14synaptonemal complex assembly (GO:0007130)7.05197829
15epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)6.84449800
16cilium movement (GO:0003341)6.83973737
17single fertilization (GO:0007338)6.56097779
18sperm capacitation (GO:0048240)5.65756279
19fertilization (GO:0009566)5.55885095
20positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003575.43168060
21spermatogenesis (GO:0007283)5.24794936
22male gamete generation (GO:0048232)5.22802980
23genitalia morphogenesis (GO:0035112)5.14925410
24DNA methylation involved in gamete generation (GO:0043046)5.10919704
25organic cation transport (GO:0015695)5.03441506
26calcium ion-dependent exocytosis (GO:0017156)4.94543935
27gamete generation (GO:0007276)4.88044149
28regulation of microtubule-based movement (GO:0060632)4.86906790
29cellular process involved in reproduction in multicellular organism (GO:0022412)4.72020177
30monoubiquitinated protein deubiquitination (GO:0035520)4.60843101
31chromosome organization involved in meiosis (GO:0070192)4.60221844
32germ cell development (GO:0007281)4.57457931
33microtubule severing (GO:0051013)4.49561059
34meiotic nuclear division (GO:0007126)4.49480751
35negative regulation of execution phase of apoptosis (GO:1900118)4.43475949
36negative regulation of inclusion body assembly (GO:0090084)4.34375690
37cell recognition (GO:0008037)4.33555398
38ventricular system development (GO:0021591)4.33073355
39male meiosis I (GO:0007141)4.25928022
40intraciliary transport (GO:0042073)4.10558806
41glycerol ether metabolic process (GO:0006662)3.88687377
42multicellular organismal reproductive process (GO:0048609)3.88571789
43microtubule depolymerization (GO:0007019)3.67561713
44Golgi transport vesicle coating (GO:0048200)3.66476696
45COPI coating of Golgi vesicle (GO:0048205)3.66476696
46seminiferous tubule development (GO:0072520)3.61707891
47protein polyglutamylation (GO:0018095)3.59080256
48ether metabolic process (GO:0018904)3.56497359
49meiosis I (GO:0007127)3.53291668
50regulation of inclusion body assembly (GO:0090083)3.39497049
51left/right pattern formation (GO:0060972)3.39084302
52positive regulation of peptidyl-threonine phosphorylation (GO:0010800)3.36265216
53spermatid nucleus differentiation (GO:0007289)3.33970343
54positive regulation of vesicle fusion (GO:0031340)3.30908384
55macroautophagy (GO:0016236)3.14223594
56protein localization to cilium (GO:0061512)3.13816664
57gene silencing by RNA (GO:0031047)3.09489975
58positive regulation of gluconeogenesis (GO:0045722)3.04921056
59cilium organization (GO:0044782)3.04481827
60regulation of meiosis I (GO:0060631)3.04233591
61cilium morphogenesis (GO:0060271)3.01351700
62meiotic cell cycle (GO:0051321)3.00157208
63cilium assembly (GO:0042384)2.96016344
64L-alpha-amino acid transmembrane transport (GO:1902475)2.95072029
65multicellular organismal development (GO:0007275)2.92185182
66positive regulation of amino acid transport (GO:0051957)2.91459896
67chaperone-mediated protein complex assembly (GO:0051131)2.86614668
68negative regulation of JUN kinase activity (GO:0043508)2.86132917
69cellular component assembly involved in morphogenesis (GO:0010927)2.85826791
70peptide hormone processing (GO:0016486)2.83286283
71microtubule-based movement (GO:0007018)2.82325072
72response to pheromone (GO:0019236)2.81980422
73lactate metabolic process (GO:0006089)2.80681122
74axoneme assembly (GO:0035082)2.78788682
75calcium ion import (GO:0070509)2.75011018
76regulation of centriole replication (GO:0046599)2.73585009
77positive regulation of insulin secretion (GO:0032024)2.72312306
78positive regulation of histone H3-K4 methylation (GO:0051571)2.71874722
79cell redox homeostasis (GO:0045454)2.68266408
80positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.67761788
81meiotic cell cycle process (GO:1903046)2.65223275
82carnitine transport (GO:0015879)2.64718774
83amino-acid betaine transport (GO:0015838)2.64718774
84centriole replication (GO:0007099)2.63155589
85carnitine transmembrane transport (GO:1902603)2.61526448
86DNA packaging (GO:0006323)2.60129148
87chromosome condensation (GO:0030261)2.58708947
88retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.57701569
89COPII vesicle coating (GO:0048208)2.55740435
90nucleoside diphosphate phosphorylation (GO:0006165)2.54604628
91centriole assembly (GO:0098534)2.47605879
92regulation of spindle checkpoint (GO:0090231)2.47303591
93fusion of sperm to egg plasma membrane (GO:0007342)13.0889826
94cell wall macromolecule catabolic process (GO:0016998)11.5367487
95cell wall macromolecule metabolic process (GO:0044036)11.5367487
96acrosome assembly (GO:0001675)11.3967047
97cilium or flagellum-dependent cell motility (GO:0001539)11.1560149
98multicellular organism reproduction (GO:0032504)10.7558302
99sperm motility (GO:0030317)10.5407071
100sperm-egg recognition (GO:0035036)10.4800895

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.34573765
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse6.05150446
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.74692220
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.16818016
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.98681037
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.72966149
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.67389828
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.49152734
9ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.46015050
10RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse2.18722054
11KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse2.11139997
12PCGF2_27294783_Chip-Seq_ESCs_Mouse2.09575736
13CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.06335258
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.06139231
15PCGF2_27294783_Chip-Seq_NPCs_Mouse2.02094755
16CBX2_27304074_Chip-Seq_ESCs_Mouse1.94851016
17STAT6_21828071_ChIP-Seq_BEAS2B_Human1.92495407
18TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.90829036
19EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.86806450
20KAP1_22055183_ChIP-Seq_ESCs_Mouse1.82123987
21ZNF274_21170338_ChIP-Seq_K562_Hela1.80937295
22EZH2_22144423_ChIP-Seq_EOC_Human1.77603508
23VDR_22108803_ChIP-Seq_LS180_Human1.67436303
24NFE2_27457419_Chip-Seq_LIVER_Mouse1.65341265
25SUZ12_27294783_Chip-Seq_NPCs_Mouse1.60817199
26TAL1_26923725_Chip-Seq_HPCs_Mouse1.60721428
27GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.59054638
28FLI1_21867929_ChIP-Seq_TH2_Mouse1.53504662
29* RNF2_27304074_Chip-Seq_NSC_Mouse1.53297536
30MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.52790045
31TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.52724022
32KDM2B_26808549_Chip-Seq_REH_Human1.50998814
33ELK4_26923725_Chip-Seq_MESODERM_Mouse1.50727472
34NANOG_18555785_Chip-Seq_ESCs_Mouse1.48193067
35STAT1_17558387_ChIP-Seq_HELA_Human1.47684291
36EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.45609801
37GATA1_26923725_Chip-Seq_HPCs_Mouse1.45557969
38MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45417059
39KLF4_18555785_Chip-Seq_ESCs_Mouse1.43299805
40CRX_20693478_ChIP-Seq_RETINA_Mouse1.42144498
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.40589787
42OCT4_18555785_Chip-Seq_ESCs_Mouse1.39099272
43P53_22387025_ChIP-Seq_ESCs_Mouse1.37140870
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.36073163
45CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.35611610
46SOX2_18555785_Chip-Seq_ESCs_Mouse1.35105636
47RUNX1_26923725_Chip-Seq_HPCs_Mouse1.35086232
48EZH2_27294783_Chip-Seq_NPCs_Mouse1.34369602
49LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.32186261
50CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.31472886
51ESRRB_18555785_Chip-Seq_ESCs_Mouse1.30165410
52CMYC_18555785_Chip-Seq_ESCs_Mouse1.28452749
53P300_18555785_Chip-Seq_ESCs_Mouse1.27325885
54STAT3_18555785_Chip-Seq_ESCs_Mouse1.27218424
55NMYC_18555785_Chip-Seq_ESCs_Mouse1.24929984
56SOX2_22085726_ChIP-Seq_NPCs_Mouse1.24238201
57EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.24124019
58SUZ12_18555785_Chip-Seq_ESCs_Mouse1.24008876
59GATA3_21867929_ChIP-Seq_CD8_Mouse1.22537561
60CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.21738240
61CTCF_18555785_Chip-Seq_ESCs_Mouse1.21016034
62POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20154599
63RUNX1_27457419_Chip-Seq_LIVER_Mouse1.20036439
64ERG_20517297_ChIP-Seq_VCAP_Human1.19904679
65FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19646036
66* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.14983074
67SMAD1_18555785_Chip-Seq_ESCs_Mouse1.14957675
68TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13843633
69P53_21459846_ChIP-Seq_SAOS-2_Human1.13637147
70GATA3_21867929_ChIP-Seq_TH1_Mouse1.13502907
71OCT4_21477851_ChIP-Seq_ESCs_Mouse1.12511456
72ZFX_18555785_Chip-Seq_ESCs_Mouse1.10833635
73NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.10827418
74GF1_26923725_Chip-Seq_HPCs_Mouse1.09924724
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09455420
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09455420
77E2F1_18555785_Chip-Seq_ESCs_Mouse1.07454324
78PU1_27457419_Chip-Seq_LIVER_Mouse1.05387141
79GF1B_26923725_Chip-Seq_HPCs_Mouse1.05153308
80CBP_20019798_ChIP-Seq_JUKART_Human1.04116235
81IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04116235
82WDR5_24793694_ChIP-Seq_LNCAP_Human1.03548786
83PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00115848
84EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.99872490
85TP53_22573176_ChIP-Seq_HFKS_Human0.99172589
86EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.94561391
87REST_19997604_ChIP-ChIP_NEURONS_Mouse0.94445821
88AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.93147756
89FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92351139
90TCF4_23295773_ChIP-Seq_U87_Human0.91929502
91PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.91609634
92FOXA1_25329375_ChIP-Seq_VCAP_Human0.90847583
93FOXA1_27270436_Chip-Seq_PROSTATE_Human0.90847583
94* REST_21632747_ChIP-Seq_MESCs_Mouse0.90519590
95SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.89495235
96CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.87761832
97EP300_21415370_ChIP-Seq_HL-1_Mouse0.87761088
98PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.86944165
99FOXA1_21572438_ChIP-Seq_LNCaP_Human0.86295860
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.85609376

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation4.97430521
2MP0000013_abnormal_adipose_tissue4.68362380
3MP0003698_abnormal_male_reproductive4.55741251
4MP0001929_abnormal_gametogenesis4.36100772
5MP0003183_abnormal_peptide_metabolism4.25431590
6MP0002653_abnormal_ependyma_morphology2.87865248
7MP0002210_abnormal_sex_determination2.78049750
8MP0002837_dystrophic_cardiac_calcinosis2.68984039
9MP0005645_abnormal_hypothalamus_physiol2.48322436
10MP0002161_abnormal_fertility/fecundity2.46527935
11MP0001145_abnormal_male_reproductive2.37458705
12MP0005670_abnormal_white_adipose2.30353920
13MP0003195_calcinosis2.30117757
14MP0000003_abnormal_adipose_tissue2.25064728
15MP0000653_abnormal_sex_gland2.16630021
16MP0005379_endocrine/exocrine_gland_phen2.13489176
17MP0005084_abnormal_gallbladder_morpholo2.08088731
18MP0005410_abnormal_fertilization11.2438444
19MP0001765_abnormal_ion_homeostasis1.99940340
20MP0002909_abnormal_adrenal_gland1.74378489
21MP0002138_abnormal_hepatobiliary_system1.70044937
22MP0001944_abnormal_pancreas_morphology1.64310920
23MP0004233_abnormal_muscle_weight1.63628519
24MP0001756_abnormal_urination1.42824104
25MP0006072_abnormal_retinal_apoptosis1.41818967
26MP0002928_abnormal_bile_duct1.40422553
27MP0003787_abnormal_imprinting1.35851969
28MP0010386_abnormal_urinary_bladder1.35585885
29MP0005220_abnormal_exocrine_pancreas1.31997368
30MP0005257_abnormal_intraocular_pressure1.28000715
31MP0004019_abnormal_vitamin_homeostasis1.27475803
32MP0005623_abnormal_meninges_morphology1.25480820
33MP0003122_maternal_imprinting1.25231420
34MP0002234_abnormal_pharynx_morphology1.24287896
35MP0005636_abnormal_mineral_homeostasis1.22389567
36MP0009697_abnormal_copulation1.17459903
37MP0005375_adipose_tissue_phenotype1.17219335
38MP0002163_abnormal_gland_morphology1.16199087
39MP0002160_abnormal_reproductive_system1.12795061
40MP0002693_abnormal_pancreas_physiology1.10119029
41MP0004036_abnormal_muscle_relaxation1.09596307
42MP0005365_abnormal_bile_salt1.08063099
43MP0005408_hypopigmentation1.04019024
44MP0003121_genomic_imprinting1.03980578
45MP0003959_abnormal_lean_body0.99344279
46MP0009046_muscle_twitch0.96780855
47MP0004270_analgesia0.94748190
48MP0004084_abnormal_cardiac_muscle0.94184408
49MP0008057_abnormal_DNA_replication0.94117699
50MP0002139_abnormal_hepatobiliary_system0.87265425
51MP0002734_abnormal_mechanical_nocicepti0.84319653
52MP0002078_abnormal_glucose_homeostasis0.84247515
53MP0005253_abnormal_eye_physiology0.83533254
54MP0003300_gastrointestinal_ulcer0.81819936
55MP0001984_abnormal_olfaction0.79945798
56MP0004264_abnormal_extraembryonic_tissu0.79219283
57MP0003123_paternal_imprinting0.77299499
58MP0005647_abnormal_sex_gland0.76293281
59MP0002009_preneoplasia0.74401826
60MP0008058_abnormal_DNA_repair0.72851176
61MP0002877_abnormal_melanocyte_morpholog0.71889254
62MP0008961_abnormal_basal_metabolism0.71720462
63MP0008995_early_reproductive_senescence0.69410132
64MP0000678_abnormal_parathyroid_gland0.65718693
65MP0000631_abnormal_neuroendocrine_gland0.65673667
66MP0002638_abnormal_pupillary_reflex0.65110386
67MP0001764_abnormal_homeostasis0.64789780
68MP0002938_white_spotting0.62198410
69MP0003953_abnormal_hormone_level0.61529373
70MP0005389_reproductive_system_phenotype0.61493695
71MP0004043_abnormal_pH_regulation0.60047917
72MP0003699_abnormal_female_reproductive0.58401767
73MP0003786_premature_aging0.58085854
74MP0003879_abnormal_hair_cell0.57708011
75MP0002282_abnormal_trachea_morphology0.57410529
76MP0002735_abnormal_chemical_nociception0.56984221
77MP0002269_muscular_atrophy0.55708363
78MP0001986_abnormal_taste_sensitivity0.54924310
79MP0001324_abnormal_eye_pigmentation0.54245675
80MP0003633_abnormal_nervous_system0.52832553
81MP0004145_abnormal_muscle_electrophysio0.52553866
82MP0008007_abnormal_cellular_replicative0.52553449
83MP0000639_abnormal_adrenal_gland0.51831925
84MP0001502_abnormal_circadian_rhythm0.48620990
85MP0003252_abnormal_bile_duct0.47423129
86MP0009643_abnormal_urine_homeostasis0.45262905
87MP0000427_abnormal_hair_cycle0.45243205
88MP0000230_abnormal_systemic_arterial0.45109156
89MP0006036_abnormal_mitochondrial_physio0.44379510
90MP0003646_muscle_fatigue0.41758460
91MP0005075_abnormal_melanosome_morpholog0.41574399
92MP0000358_abnormal_cell_content/0.40883892
93MP0002084_abnormal_developmental_patter0.40693674
94MP0005551_abnormal_eye_electrophysiolog0.40388879
95MP0002127_abnormal_cardiovascular_syste0.40011410
96MP0002168_other_aberrant_phenotype0.39388115
97MP0001730_embryonic_growth_arrest0.38068517
98MP0005391_vision/eye_phenotype0.37619592
99MP0005332_abnormal_amino_acid0.37114296
100MP0001905_abnormal_dopamine_level0.35754338

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)8.42179654
2Abnormal respiratory motile cilium morphology (HP:0005938)7.10774143
3Abnormal respiratory epithelium morphology (HP:0012253)7.10774143
4Abnormal ciliary motility (HP:0012262)7.08278085
5Chronic bronchitis (HP:0004469)6.92936756
6Rhinitis (HP:0012384)6.90526139
7Nasal polyposis (HP:0100582)5.38511509
8Infertility (HP:0000789)5.35362069
9Abnormality of the nasal mucosa (HP:0000433)4.25818353
10Bronchiectasis (HP:0002110)4.15579366
11Male infertility (HP:0003251)4.13713961
12Bronchitis (HP:0012387)3.96199803
13Nephronophthisis (HP:0000090)3.62025971
14Abnormal spermatogenesis (HP:0008669)3.47584436
15Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.39685084
16Retinal atrophy (HP:0001105)3.08794005
17Recurrent otitis media (HP:0000403)3.07471980
18Abnormality of midbrain morphology (HP:0002418)3.05792644
19Molar tooth sign on MRI (HP:0002419)3.05792644
20Medial flaring of the eyebrow (HP:0010747)3.03992156
21Azoospermia (HP:0000027)2.95356417
22Hyperinsulinemic hypoglycemia (HP:0000825)2.94157492
23Hyperglycemia (HP:0003074)2.93958505
24Abnormality of the renal medulla (HP:0100957)2.90929498
25Recurrent sinusitis (HP:0011108)2.84002782
26Abnormality of calcium-phosphate metabolism (HP:0100530)2.59242676
27Hyperphosphatemia (HP:0002905)2.42071622
28Abnormality of the renal cortex (HP:0011035)2.37222009
29Hemiparesis (HP:0001269)2.19058271
30Congenital hepatic fibrosis (HP:0002612)2.17645470
31Tubulointerstitial abnormality (HP:0001969)2.13642227
32Tubular atrophy (HP:0000092)2.12547714
33Tubulointerstitial nephritis (HP:0001970)2.11969156
34Polydipsia (HP:0001959)2.09585818
35Abnormal drinking behavior (HP:0030082)2.09585818
36Abnormality of renal resorption (HP:0011038)2.08930319
37Papillary thyroid carcinoma (HP:0002895)2.06985755
38Cystic liver disease (HP:0006706)2.05871021
39Pancreatic fibrosis (HP:0100732)2.03648568
40Pancreatic islet-cell hyperplasia (HP:0004510)2.03205732
41Gonadotropin excess (HP:0000837)2.02807988
42Congenital primary aphakia (HP:0007707)2.02718629
43Abnormality of renal excretion (HP:0011036)2.00258042
44Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.3412271
45Dynein arm defect of respiratory motile cilia (HP:0012255)10.8044801
46Absent/shortened dynein arms (HP:0200106)10.8044801
47Large for gestational age (HP:0001520)1.99153515
48Recurrent bronchitis (HP:0002837)1.98375168
49Fibular hypoplasia (HP:0003038)1.97912064
50Gait imbalance (HP:0002141)1.97798433
51Insulin-resistant diabetes mellitus (HP:0000831)1.93300317
52Increased CSF protein (HP:0002922)1.91461146
53Tubulointerstitial fibrosis (HP:0005576)1.91338555
54Abnormality of the dental pulp (HP:0006479)1.90424855
55Orthostatic hypotension (HP:0001278)1.84741744
56Postaxial foot polydactyly (HP:0001830)1.84392213
57Facial cleft (HP:0002006)1.83225387
58Late onset (HP:0003584)1.80019409
59Abnormality of the lower motor neuron (HP:0002366)1.79997099
60Absent rod-and cone-mediated responses on ERG (HP:0007688)1.76860208
61Nephrogenic diabetes insipidus (HP:0009806)1.76085602
62Abnormality of aromatic amino acid family metabolism (HP:0004338)1.73762340
63Constricted visual fields (HP:0001133)1.73241229
64Aplasia/Hypoplasia of the lens (HP:0008063)1.72003534
65Hyperkalemia (HP:0002153)1.71657329
66Hypoplasia of dental enamel (HP:0006297)1.70209917
67Pancreatic cysts (HP:0001737)1.70110657
6811 pairs of ribs (HP:0000878)1.69791981
69Agitation (HP:0000713)1.69310552
70Abnormality of the dental root (HP:0006486)1.68093860
71Taurodontia (HP:0000679)1.68093860
72Abnormality of permanent molar morphology (HP:0011071)1.68093860
73Median cleft lip (HP:0000161)1.67407660
74Postaxial hand polydactyly (HP:0001162)1.65890641
75Abnormality of the pancreatic islet cells (HP:0006476)1.65271883
76Abnormality of endocrine pancreas physiology (HP:0012093)1.65271883
77Abnormal urine output (HP:0012590)1.61322768
78Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.59803235
79Abnormality of dentin (HP:0010299)1.59127588
80Dysautonomia (HP:0002459)1.58606101
81Menstrual irregularities (HP:0000858)1.57019077
82Stage 5 chronic kidney disease (HP:0003774)1.56957131
83Renal dysplasia (HP:0000110)1.56528824
84Abnormal pancreas size (HP:0012094)1.55268620
85Nephropathy (HP:0000112)1.54501482
86Polyuria (HP:0000103)1.54320335
87Occipital encephalocele (HP:0002085)1.53933813
88Hyperparathyroidism (HP:0000843)1.53364492
89True hermaphroditism (HP:0010459)1.53144484
90Aplasia/Hypoplasia of the tongue (HP:0010295)1.52253920
91Abnormality of molar (HP:0011077)1.51259318
92Abnormality of molar morphology (HP:0011070)1.51259318
93Hypoglycemic seizures (HP:0002173)1.49879568
94Bell-shaped thorax (HP:0001591)1.49854108
95Tongue fasciculations (HP:0001308)1.49710326
96Ketoacidosis (HP:0001993)1.48401830
97Symptomatic seizures (HP:0011145)1.45994963
98Hypoplastic labia majora (HP:0000059)1.45209152
99Genital tract atresia (HP:0001827)1.44739054
100Missing ribs (HP:0000921)1.43128528

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK37.23370459
2PDK36.14885283
3PDK46.14885283
4MAPK155.03603529
5PRKD34.45906904
6PDK23.95926997
7WNK43.95539456
8TESK13.56406232
9PIK3CG3.09765254
10PTK2B2.20752138
11ICK1.77852386
12DYRK1B1.59131291
13WNK11.47154717
14STK391.42673010
15UHMK11.28356379
16PLK41.24197036
17STK38L1.20432209
18INSRR1.19435144
19TAOK31.15983621
20BRSK21.12444742
21FRK0.97294162
22STK380.92030437
23PRKG20.89978047
24MAPKAPK30.88718567
25PDK10.83612627
26AKT30.80404666
27DYRK30.70900427
28BRAF0.69770077
29NEK20.69379315
30CHEK20.65985283
31PASK0.65165326
32PNCK0.62597088
33PDPK10.56097444
34RIPK10.54026033
35IRAK10.53917154
36PAK30.53744956
37CDC70.51712369
38MAP3K20.50787686
39MAP3K40.48988722
40HIPK20.48458860
41BRSK10.47667906
42MAP3K10.47657213
43TYRO30.44279266
44FER0.42747107
45TESK20.41618306
46ATM0.40459040
47PRKAA10.39492410
48PRKD20.38653882
49MTOR0.37309639
50CAMKK20.35975532
51CHEK10.35189722
52TTK0.34565176
53STK30.33420403
54LMTK20.32118510
55ATR0.31640566
56MAP2K70.31573016
57ZAK0.30634543
58ERBB40.30472747
59DAPK10.29889184
60BRD40.29787298
61ITK0.27139362
62CDC42BPA0.26438381
63PINK10.23648265
64EIF2AK30.23579199
65EEF2K0.22314790
66ILK0.21462318
67PRKDC0.20729349
68RPS6KB10.19281420
69PLK10.18202614
70NEK60.17445350
71RPS6KA10.16213719
72CSK0.16199103
73RPS6KA50.15294767
74LATS10.15090053
75DAPK20.15063714
76CCNB10.13585908
77EPHA20.13479455
78OBSCN0.13000458
79MYLK0.12861248
80AURKA0.12858544
81PRKAA20.12141602
82MAPK80.11401994
83GRK70.11350583
84PRKG10.10841950
85PTK20.10588078
86BMPR20.10265167
87SCYL20.09995426
88MAPK100.09741434
89EPHA30.09440072
90ERN10.08555726
91PAK60.07529128
92PAK10.06905242
93PAK20.06807828
94MAPKAPK20.06669184
95MARK20.06485371
96RPS6KA30.06312206
97CDK10.06011915
98PRKCH0.05080401
99GSK3B0.04740974
100CAMKK10.04028466

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049505.05606099
2Protein processing in endoplasmic reticulum_Homo sapiens_hsa041413.32857632
3Glucagon signaling pathway_Homo sapiens_hsa049223.16457903
4Vitamin B6 metabolism_Homo sapiens_hsa007503.13948440
5Basal transcription factors_Homo sapiens_hsa030223.00784157
6Pyruvate metabolism_Homo sapiens_hsa006202.89772970
7Protein export_Homo sapiens_hsa030602.85142721
8Insulin secretion_Homo sapiens_hsa049112.79396542
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.77287581
10Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.65696137
11Linoleic acid metabolism_Homo sapiens_hsa005912.40905895
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.32716626
13Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.17788639
14Selenocompound metabolism_Homo sapiens_hsa004502.02626624
15Pentose phosphate pathway_Homo sapiens_hsa000301.90287813
16Amphetamine addiction_Homo sapiens_hsa050311.83762942
17Propanoate metabolism_Homo sapiens_hsa006401.80613372
18Renin-angiotensin system_Homo sapiens_hsa046141.65114470
19Carbohydrate digestion and absorption_Homo sapiens_hsa049731.61788981
20Type I diabetes mellitus_Homo sapiens_hsa049401.46375619
21Renin secretion_Homo sapiens_hsa049241.44854459
22Huntingtons disease_Homo sapiens_hsa050161.41714986
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.39257777
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.37033842
25Oocyte meiosis_Homo sapiens_hsa041141.34361827
26Dorso-ventral axis formation_Homo sapiens_hsa043201.32116314
27Ether lipid metabolism_Homo sapiens_hsa005651.29660046
28N-Glycan biosynthesis_Homo sapiens_hsa005101.26239810
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.25070651
30Sulfur metabolism_Homo sapiens_hsa009201.16924430
31Thyroid hormone synthesis_Homo sapiens_hsa049181.15475786
32Fanconi anemia pathway_Homo sapiens_hsa034601.15346580
33Fatty acid biosynthesis_Homo sapiens_hsa000611.14786108
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.13779479
35RNA degradation_Homo sapiens_hsa030181.09803524
36Estrogen signaling pathway_Homo sapiens_hsa049151.08194201
37Glycerophospholipid metabolism_Homo sapiens_hsa005641.05872335
38Cardiac muscle contraction_Homo sapiens_hsa042601.01050688
39Vibrio cholerae infection_Homo sapiens_hsa051100.98370749
40SNARE interactions in vesicular transport_Homo sapiens_hsa041300.94819206
41Circadian rhythm_Homo sapiens_hsa047100.94252168
42Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.93343260
43Glycerolipid metabolism_Homo sapiens_hsa005610.92862846
44RNA transport_Homo sapiens_hsa030130.90639171
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.88629301
46Cocaine addiction_Homo sapiens_hsa050300.86846414
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.80314743
48Cysteine and methionine metabolism_Homo sapiens_hsa002700.79604538
49Carbon metabolism_Homo sapiens_hsa012000.79102935
50Collecting duct acid secretion_Homo sapiens_hsa049660.78038583
51mRNA surveillance pathway_Homo sapiens_hsa030150.77794557
52Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.77491258
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76468234
54Fat digestion and absorption_Homo sapiens_hsa049750.76386970
55Arachidonic acid metabolism_Homo sapiens_hsa005900.75751665
56PPAR signaling pathway_Homo sapiens_hsa033200.74543255
57Type II diabetes mellitus_Homo sapiens_hsa049300.74512909
58Lysine degradation_Homo sapiens_hsa003100.73922425
59ABC transporters_Homo sapiens_hsa020100.73374998
60Fructose and mannose metabolism_Homo sapiens_hsa000510.71359075
61Antigen processing and presentation_Homo sapiens_hsa046120.68796823
62Folate biosynthesis_Homo sapiens_hsa007900.68595936
63Long-term potentiation_Homo sapiens_hsa047200.68575379
64Purine metabolism_Homo sapiens_hsa002300.68388340
65Pancreatic secretion_Homo sapiens_hsa049720.67669432
66Protein digestion and absorption_Homo sapiens_hsa049740.66407102
67Circadian entrainment_Homo sapiens_hsa047130.65428057
68Aldosterone synthesis and secretion_Homo sapiens_hsa049250.62728653
69Biosynthesis of amino acids_Homo sapiens_hsa012300.62107452
70Mineral absorption_Homo sapiens_hsa049780.60529560
71Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58341444
72Prion diseases_Homo sapiens_hsa050200.56533882
73Inositol phosphate metabolism_Homo sapiens_hsa005620.54384469
74cAMP signaling pathway_Homo sapiens_hsa040240.47840817
75Synaptic vesicle cycle_Homo sapiens_hsa047210.47778173
76Dopaminergic synapse_Homo sapiens_hsa047280.47605771
77Phosphatidylinositol signaling system_Homo sapiens_hsa040700.46208728
78Ovarian steroidogenesis_Homo sapiens_hsa049130.44361178
79Glutathione metabolism_Homo sapiens_hsa004800.42660842
80Fatty acid degradation_Homo sapiens_hsa000710.41777013
81Other glycan degradation_Homo sapiens_hsa005110.39101913
82Systemic lupus erythematosus_Homo sapiens_hsa053220.38053578
83Metabolic pathways_Homo sapiens_hsa011000.37506857
84Alcoholism_Homo sapiens_hsa050340.34670008
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33303140
86Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.30946210
87Viral carcinogenesis_Homo sapiens_hsa052030.30740646
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29498594
89Calcium signaling pathway_Homo sapiens_hsa040200.29353929
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.27826123
91Tight junction_Homo sapiens_hsa045300.27820311
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27326400
93Endocytosis_Homo sapiens_hsa041440.26059635
94Legionellosis_Homo sapiens_hsa051340.25888399
95Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.25674236
96AMPK signaling pathway_Homo sapiens_hsa041520.25542937
97Taste transduction_Homo sapiens_hsa047420.25500923
98Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.24962891
99Oxytocin signaling pathway_Homo sapiens_hsa049210.24021271
100Wnt signaling pathway_Homo sapiens_hsa043100.22286514

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