HTN3

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: This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein K11-linked deubiquitination (GO:0035871)6.28859503
2indole-containing compound catabolic process (GO:0042436)5.06257702
3indolalkylamine catabolic process (GO:0046218)5.06257702
4tryptophan catabolic process (GO:0006569)5.06257702
5kynurenine metabolic process (GO:0070189)4.46029816
6detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.41969845
7indolalkylamine metabolic process (GO:0006586)4.28199186
8tryptophan metabolic process (GO:0006568)4.23083832
9L-fucose catabolic process (GO:0042355)4.11995348
10fucose catabolic process (GO:0019317)4.11995348
11L-fucose metabolic process (GO:0042354)4.11995348
12behavioral response to nicotine (GO:0035095)4.05384713
13neural tube formation (GO:0001841)3.99849347
14negative regulation of mast cell activation (GO:0033004)3.87930281
15cilium or flagellum-dependent cell motility (GO:0001539)3.74944988
16detection of light stimulus involved in visual perception (GO:0050908)3.62620981
17detection of light stimulus involved in sensory perception (GO:0050962)3.62620981
18sulfation (GO:0051923)3.61034525
19reflex (GO:0060004)3.60965301
20cellular ketone body metabolic process (GO:0046950)3.59184933
21serotonin receptor signaling pathway (GO:0007210)3.56140687
22establishment of protein localization to Golgi (GO:0072600)3.53465569
23regulation of memory T cell differentiation (GO:0043380)3.51578375
24rRNA catabolic process (GO:0016075)3.50298104
25response to pheromone (GO:0019236)3.49761014
26epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.47318377
27photoreceptor cell maintenance (GO:0045494)3.47152135
28protein K63-linked deubiquitination (GO:0070536)3.42352269
29thyroid hormone metabolic process (GO:0042403)3.38039717
30ketone body metabolic process (GO:1902224)3.28742852
31cellular biogenic amine catabolic process (GO:0042402)3.26370169
32amine catabolic process (GO:0009310)3.26370169
33regulation of establishment of cell polarity (GO:2000114)3.24594861
34negative regulation of calcium ion transport into cytosol (GO:0010523)3.23393986
35signal peptide processing (GO:0006465)3.21317316
36DNA double-strand break processing (GO:0000729)3.15347523
37indole-containing compound metabolic process (GO:0042430)3.13478649
38protein K48-linked deubiquitination (GO:0071108)3.10982986
39piRNA metabolic process (GO:0034587)3.10014554
40protein localization to cilium (GO:0061512)3.08901423
41axoneme assembly (GO:0035082)3.06239218
42sex differentiation (GO:0007548)3.01436695
43retinal cone cell development (GO:0046549)3.01095267
44regulation of sarcomere organization (GO:0060297)3.01027450
45glycerophospholipid catabolic process (GO:0046475)2.99802902
46regulation of appetite (GO:0032098)2.96347198
47tachykinin receptor signaling pathway (GO:0007217)2.94836560
48neuronal action potential propagation (GO:0019227)2.92830416
49benzene-containing compound metabolic process (GO:0042537)2.90038689
50startle response (GO:0001964)2.89634180
51regulation of action potential (GO:0098900)2.88147639
52epithelial cilium movement (GO:0003351)2.88042961
53NAD biosynthetic process (GO:0009435)2.87793895
54replication fork processing (GO:0031297)2.86413898
55L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.84731448
56behavioral response to ethanol (GO:0048149)2.84063974
57lipid translocation (GO:0034204)2.82047165
58phospholipid translocation (GO:0045332)2.82047165
59cilium morphogenesis (GO:0060271)2.80584032
60detection of mechanical stimulus involved in sensory perception (GO:0050974)2.79521095
61regulation of hippo signaling (GO:0035330)2.78568653
62phosphatidylinositol acyl-chain remodeling (GO:0036149)2.75896758
63righting reflex (GO:0060013)2.74235952
64RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.73025448
65auditory receptor cell stereocilium organization (GO:0060088)2.72526120
66flavonoid metabolic process (GO:0009812)2.72405761
67regulation of establishment or maintenance of cell polarity (GO:0032878)2.72372939
68aromatic amino acid family catabolic process (GO:0009074)2.71823811
69interferon-gamma production (GO:0032609)2.70572497
70positive regulation of oligodendrocyte differentiation (GO:0048714)2.69955179
71negative regulation of cytosolic calcium ion concentration (GO:0051481)2.69763854
72adaptation of signaling pathway (GO:0023058)2.67468279
73neuronal action potential (GO:0019228)2.62899582
74proline transport (GO:0015824)2.59667302
75cellular response to sterol (GO:0036315)2.59386002
76regulation of cilium movement (GO:0003352)2.59349782
77gamma-aminobutyric acid transport (GO:0015812)2.58284130
78cilium movement (GO:0003341)2.57618230
79cilium organization (GO:0044782)2.56970847
80protein polyglutamylation (GO:0018095)2.55028134
81cilium assembly (GO:0042384)2.54554804
82DNA methylation involved in gamete generation (GO:0043046)2.53453972
83nonmotile primary cilium assembly (GO:0035058)2.53204138
84negative regulation of multicellular organism growth (GO:0040015)2.51760541
85positive regulation of vasculogenesis (GO:2001214)2.51541768
86seminiferous tubule development (GO:0072520)2.50635322
87embryonic epithelial tube formation (GO:0001838)2.48553694
88protein targeting to Golgi (GO:0000042)2.48137892
89inner ear receptor stereocilium organization (GO:0060122)2.47791293
90regulation of collateral sprouting (GO:0048670)2.46725334
91regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.46359073
92primary amino compound metabolic process (GO:1901160)2.45412947
93water-soluble vitamin biosynthetic process (GO:0042364)2.44973158
94L-methionine salvage (GO:0071267)2.44881614
95L-methionine biosynthetic process (GO:0071265)2.44881614
96amino acid salvage (GO:0043102)2.44881614
97photoreceptor cell development (GO:0042461)2.44207887
98G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.43772826
99purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.42018375
1003-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.42018375

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.87232179
2ZNF274_21170338_ChIP-Seq_K562_Hela3.25582252
3VDR_22108803_ChIP-Seq_LS180_Human3.23296702
4IGF1R_20145208_ChIP-Seq_DFB_Human2.93038204
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.79591988
6* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.63571585
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.60689159
8TAF15_26573619_Chip-Seq_HEK293_Human2.60180579
9EZH2_22144423_ChIP-Seq_EOC_Human2.46156393
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.42728316
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.42537822
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.36665798
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.19740101
14P300_19829295_ChIP-Seq_ESCs_Human2.16021940
15FUS_26573619_Chip-Seq_HEK293_Human2.11902928
16CTBP1_25329375_ChIP-Seq_LNCAP_Human2.10590513
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.10206380
18EWS_26573619_Chip-Seq_HEK293_Human2.09802134
19ER_23166858_ChIP-Seq_MCF-7_Human2.08346652
20SALL1_21062744_ChIP-ChIP_HESCs_Human2.01482959
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.98876463
22PCGF2_27294783_Chip-Seq_ESCs_Mouse1.90991842
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90162820
24SMAD4_21799915_ChIP-Seq_A2780_Human1.80131532
25UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.77417673
26STAT3_23295773_ChIP-Seq_U87_Human1.77081254
27PIAS1_25552417_ChIP-Seq_VCAP_Human1.74072063
28BCAT_22108803_ChIP-Seq_LS180_Human1.69305758
29IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.69078142
30CBP_20019798_ChIP-Seq_JUKART_Human1.69078142
31AR_25329375_ChIP-Seq_VCAP_Human1.67974344
32* TCF4_23295773_ChIP-Seq_U87_Human1.60378988
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59700247
34NR3C1_21868756_ChIP-Seq_MCF10A_Human1.58412406
35SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.54506164
36EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.54427262
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52779328
38EZH2_27294783_Chip-Seq_NPCs_Mouse1.50402697
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44254289
40MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43673621
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.43073530
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42871109
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41910094
44PCGF2_27294783_Chip-Seq_NPCs_Mouse1.41565968
45TCF4_22108803_ChIP-Seq_LS180_Human1.41004547
46AR_21572438_ChIP-Seq_LNCaP_Human1.38731065
47TP53_22573176_ChIP-Seq_HFKS_Human1.36398062
48NFE2_27457419_Chip-Seq_LIVER_Mouse1.35604016
49* RUNX2_22187159_ChIP-Seq_PCA_Human1.35565560
50FLI1_21867929_ChIP-Seq_TH2_Mouse1.35165638
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33688098
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.33075441
53TP53_16413492_ChIP-PET_HCT116_Human1.31169952
54KLF5_20875108_ChIP-Seq_MESCs_Mouse1.30781843
55CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30753622
56TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.30206371
57EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.29143197
58NANOG_18555785_Chip-Seq_ESCs_Mouse1.28391082
59SMAD4_21741376_ChIP-Seq_EPCs_Human1.28346883
60NANOG_19829295_ChIP-Seq_ESCs_Human1.27594158
61SOX2_19829295_ChIP-Seq_ESCs_Human1.27594158
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27505781
63FOXA1_21572438_ChIP-Seq_LNCaP_Human1.27469734
64CRX_20693478_ChIP-Seq_RETINA_Mouse1.25524041
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.25399574
66TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25399574
67MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24624194
68CDX2_22108803_ChIP-Seq_LS180_Human1.22450653
69IRF1_19129219_ChIP-ChIP_H3396_Human1.22143755
70CBX2_27304074_Chip-Seq_ESCs_Mouse1.21566229
71REST_21632747_ChIP-Seq_MESCs_Mouse1.21533524
72* PRDM14_20953172_ChIP-Seq_ESCs_Human1.21414977
73EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.19992182
74BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.19034318
75FOXA1_27270436_Chip-Seq_PROSTATE_Human1.18227237
76FOXA1_25329375_ChIP-Seq_VCAP_Human1.18227237
77RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16826706
78OCT4_21477851_ChIP-Seq_ESCs_Mouse1.15767214
79P53_22387025_ChIP-Seq_ESCs_Mouse1.15766161
80NOTCH1_21737748_ChIP-Seq_TLL_Human1.10410349
81HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.10250187
82RNF2_27304074_Chip-Seq_NSC_Mouse1.09671855
83SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08868605
84STAT3_18555785_Chip-Seq_ESCs_Mouse1.07713239
85E2F1_18555785_Chip-Seq_ESCs_Mouse1.07134725
86TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.06200862
87DROSHA_22980978_ChIP-Seq_HELA_Human1.06041297
88TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05811329
89TAL1_26923725_Chip-Seq_HPCs_Mouse1.05499275
90SMAD_19615063_ChIP-ChIP_OVARY_Human1.05039175
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04693420
92TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03735847
93BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02905294
94GATA3_21878914_ChIP-Seq_MCF-7_Human1.02493674
95SOX2_21211035_ChIP-Seq_LN229_Gbm0.99703031
96KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99322097
97ETV2_25802403_ChIP-Seq_MESCs_Mouse0.99283476
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99084034
99P300_18555785_Chip-Seq_ESCs_Mouse0.98542218
100NCOR_22424771_ChIP-Seq_293T_Human0.98159244

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation3.62844037
2MP0003195_calcinosis3.03085510
3MP0005551_abnormal_eye_electrophysiolog2.71747380
4MP0001968_abnormal_touch/_nociception2.67462272
5MP0002736_abnormal_nociception_after2.59123547
6MP0008877_abnormal_DNA_methylation2.38585711
7MP0004043_abnormal_pH_regulation2.35290728
8MP0002138_abnormal_hepatobiliary_system2.27456133
9MP0009046_muscle_twitch2.21405379
10MP0003646_muscle_fatigue2.14689459
11MP0002102_abnormal_ear_morphology2.05566907
12MP0009745_abnormal_behavioral_response2.02067555
13MP0008875_abnormal_xenobiotic_pharmacok1.98942786
14MP0005253_abnormal_eye_physiology1.98808359
15MP0005646_abnormal_pituitary_gland1.93665785
16MP0001501_abnormal_sleep_pattern1.92971906
17MP0003787_abnormal_imprinting1.90481639
18MP0000427_abnormal_hair_cycle1.86208684
19MP0001984_abnormal_olfaction1.86088211
20MP0002837_dystrophic_cardiac_calcinosis1.78999625
21MP0003136_yellow_coat_color1.78656354
22MP0002876_abnormal_thyroid_physiology1.77699105
23MP0001986_abnormal_taste_sensitivity1.76270734
24MP0002735_abnormal_chemical_nociception1.73742987
25MP0006276_abnormal_autonomic_nervous1.73316478
26MP0001486_abnormal_startle_reflex1.73048044
27MP0006072_abnormal_retinal_apoptosis1.72098565
28MP0000372_irregular_coat_pigmentation1.66266690
29MP0008872_abnormal_physiological_respon1.64665683
30MP0003183_abnormal_peptide_metabolism1.59182787
31MP0002272_abnormal_nervous_system1.58398543
32MP0005645_abnormal_hypothalamus_physiol1.57085726
33MP0005174_abnormal_tail_pigmentation1.56347510
34MP0004142_abnormal_muscle_tone1.53474046
35MP0003011_delayed_dark_adaptation1.48799315
36MP0003880_abnormal_central_pattern1.47297333
37MP0003252_abnormal_bile_duct1.46856247
38MP0000631_abnormal_neuroendocrine_gland1.45961217
39MP0006292_abnormal_olfactory_placode1.45418267
40MP0002234_abnormal_pharynx_morphology1.43927435
41MP0010386_abnormal_urinary_bladder1.43195466
42MP0002928_abnormal_bile_duct1.39054553
43MP0002064_seizures1.38177109
44MP0002638_abnormal_pupillary_reflex1.37777686
45MP0000383_abnormal_hair_follicle1.36957972
46MP0001970_abnormal_pain_threshold1.35903939
47MP0001485_abnormal_pinna_reflex1.34180126
48MP0005310_abnormal_salivary_gland1.33115375
49MP0005084_abnormal_gallbladder_morpholo1.33093394
50MP0004147_increased_porphyrin_level1.32036594
51MP0005670_abnormal_white_adipose1.31194282
52MP0002572_abnormal_emotion/affect_behav1.31190757
53MP0002733_abnormal_thermal_nociception1.27068165
54MP0004924_abnormal_behavior1.26922814
55MP0005386_behavior/neurological_phenoty1.26922814
56MP0004885_abnormal_endolymph1.22175448
57MP0000230_abnormal_systemic_arterial1.20451624
58MP0004133_heterotaxia1.18041929
59MP0001529_abnormal_vocalization1.14451434
60MP0005389_reproductive_system_phenotype1.14388738
61MP0005410_abnormal_fertilization1.10036114
62MP0002067_abnormal_sensory_capabilities1.08833976
63MP0002163_abnormal_gland_morphology1.08290602
64MP0001919_abnormal_reproductive_system1.08152972
65MP0002938_white_spotting1.07966598
66MP0003718_maternal_effect1.07174098
67MP0005187_abnormal_penis_morphology1.06358988
68MP0005167_abnormal_blood-brain_barrier1.04745819
69MP0003635_abnormal_synaptic_transmissio1.04383459
70MP0005647_abnormal_sex_gland1.02660962
71MP0001764_abnormal_homeostasis1.01581247
72MP0002095_abnormal_skin_pigmentation1.00376929
73MP0004215_abnormal_myocardial_fiber0.99192516
74MP0002063_abnormal_learning/memory/cond0.97826067
75MP0002557_abnormal_social/conspecific_i0.96958990
76MP0004145_abnormal_muscle_electrophysio0.96724689
77MP0005075_abnormal_melanosome_morpholog0.94832503
78MP0000647_abnormal_sebaceous_gland0.94644380
79MP0005195_abnormal_posterior_eye0.92955114
80MP0002229_neurodegeneration0.92530929
81MP0003137_abnormal_impulse_conducting0.91030345
82MP0002734_abnormal_mechanical_nocicepti0.90163988
83MP0005085_abnormal_gallbladder_physiolo0.88480756
84MP0002254_reproductive_system_inflammat0.87740261
85MP0002653_abnormal_ependyma_morphology0.84908343
86MP0008057_abnormal_DNA_replication0.84701891
87MP0003698_abnormal_male_reproductive0.84520465
88MP0005379_endocrine/exocrine_gland_phen0.83531457
89MP0008775_abnormal_heart_ventricle0.82321851
90MP0000371_diluted_coat_color0.79205150
91MP0002752_abnormal_somatic_nervous0.78843787
92MP0001324_abnormal_eye_pigmentation0.78013286
93MP0003878_abnormal_ear_physiology0.77740241
94MP0005377_hearing/vestibular/ear_phenot0.77740241
95MP0000015_abnormal_ear_pigmentation0.76767553
96MP0002160_abnormal_reproductive_system0.74855108
97MP0001905_abnormal_dopamine_level0.71460393
98MP0004742_abnormal_vestibular_system0.70765825
99MP0004085_abnormal_heartbeat0.70714363
100MP0010329_abnormal_lipoprotein_level0.69188897

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.63425036
2True hermaphroditism (HP:0010459)4.26962433
3Pancreatic fibrosis (HP:0100732)4.22291526
4Congenital stationary night blindness (HP:0007642)3.95932812
5Hyperventilation (HP:0002883)3.67422394
6Abnormality of midbrain morphology (HP:0002418)3.62395920
7Molar tooth sign on MRI (HP:0002419)3.62395920
8Genetic anticipation (HP:0003743)3.49707892
9Attenuation of retinal blood vessels (HP:0007843)3.41918081
10Abnormality of the renal cortex (HP:0011035)3.41872585
11Abolished electroretinogram (ERG) (HP:0000550)3.40262014
12Nephronophthisis (HP:0000090)3.35968872
13Gaze-evoked nystagmus (HP:0000640)3.26315235
14Progressive cerebellar ataxia (HP:0002073)3.12485096
15Abnormality of the renal medulla (HP:0100957)3.05940248
16Aplasia/Hypoplasia of the tibia (HP:0005772)3.03274608
17Chronic hepatic failure (HP:0100626)3.01536659
18Cystic liver disease (HP:0006706)2.88675323
19Medial flaring of the eyebrow (HP:0010747)2.87499207
20Congenital sensorineural hearing impairment (HP:0008527)2.85663354
21Febrile seizures (HP:0002373)2.79564145
22Type II lissencephaly (HP:0007260)2.65475633
23Renal cortical cysts (HP:0000803)2.59306558
24Absent speech (HP:0001344)2.58790767
25Tubular atrophy (HP:0000092)2.56767947
26Polydipsia (HP:0001959)2.54371766
27Abnormal drinking behavior (HP:0030082)2.54371766
28Bony spicule pigmentary retinopathy (HP:0007737)2.46554283
29Inability to walk (HP:0002540)2.45447264
30Decreased circulating renin level (HP:0003351)2.40954548
31Focal seizures (HP:0007359)2.39136923
32Protruding tongue (HP:0010808)2.38237374
33Absent/shortened dynein arms (HP:0200106)2.37719366
34Dynein arm defect of respiratory motile cilia (HP:0012255)2.37719366
35Gait imbalance (HP:0002141)2.37269536
36Aplasia/Hypoplasia of the tongue (HP:0010295)2.37139521
37Congenital primary aphakia (HP:0007707)2.36387789
38Pendular nystagmus (HP:0012043)2.34825759
39Bile duct proliferation (HP:0001408)2.32236525
40Abnormal biliary tract physiology (HP:0012439)2.32236525
41Focal motor seizures (HP:0011153)2.30219639
42Progressive inability to walk (HP:0002505)2.29689531
43Decreased central vision (HP:0007663)2.29568748
44Sclerocornea (HP:0000647)2.29214286
45Clumsiness (HP:0002312)2.29082894
46Male pseudohermaphroditism (HP:0000037)2.28882636
47Dialeptic seizures (HP:0011146)2.27269818
48Cerebellar dysplasia (HP:0007033)2.25057295
49Fair hair (HP:0002286)2.23340395
50Keratoconus (HP:0000563)2.22826706
51Increased corneal curvature (HP:0100692)2.22826706
52Congenital hepatic fibrosis (HP:0002612)2.21840844
53Abnormality of alanine metabolism (HP:0010916)2.19654008
54Hyperalaninemia (HP:0003348)2.19654008
55Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.19654008
56Decreased electroretinogram (ERG) amplitude (HP:0000654)2.18654538
57Genital tract atresia (HP:0001827)2.16135016
58Abnormal rod and cone electroretinograms (HP:0008323)2.15221859
59Nephrogenic diabetes insipidus (HP:0009806)2.11074649
60Broad-based gait (HP:0002136)2.08366388
61Absence seizures (HP:0002121)2.08250237
62Lissencephaly (HP:0001339)2.04613154
63Postaxial foot polydactyly (HP:0001830)2.04396599
64Furrowed tongue (HP:0000221)2.02599590
65Anencephaly (HP:0002323)1.97229418
66Hemiparesis (HP:0001269)1.96906529
67Aplasia/Hypoplasia of the uvula (HP:0010293)1.96153403
68Stomach cancer (HP:0012126)1.95744734
69Vaginal atresia (HP:0000148)1.95633395
70Polyuria (HP:0000103)1.94233493
71Constricted visual fields (HP:0001133)1.94172492
72Intestinal atresia (HP:0011100)1.92784375
73Abnormality of macular pigmentation (HP:0008002)1.91880572
74Retinitis pigmentosa (HP:0000510)1.88873916
75Poor coordination (HP:0002370)1.87446207
76Abnormal ciliary motility (HP:0012262)1.86816399
77Hyperglycinemia (HP:0002154)1.84649214
78Large for gestational age (HP:0001520)1.82200346
79Abnormality of the pons (HP:0007361)1.81720898
80Widely spaced teeth (HP:0000687)1.80846230
81Chorioretinal atrophy (HP:0000533)1.80683792
82Hyperglycinuria (HP:0003108)1.80336321
83Central scotoma (HP:0000603)1.79712512
84Abnormal respiratory motile cilium morphology (HP:0005938)1.78977321
85Abnormal respiratory epithelium morphology (HP:0012253)1.78977321
86Short tibia (HP:0005736)1.77580780
87Absent rod-and cone-mediated responses on ERG (HP:0007688)1.77096846
88Small hand (HP:0200055)1.76068691
89Methylmalonic acidemia (HP:0002912)1.75069613
90Optic nerve hypoplasia (HP:0000609)1.74735352
91Preaxial hand polydactyly (HP:0001177)1.74180663
92Hypoplasia of the pons (HP:0012110)1.73354522
93Generalized hypopigmentation of hair (HP:0011358)1.72914541
94Aplasia/Hypoplasia of the spleen (HP:0010451)1.72855603
95Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.71565023
96Abnormality of the labia minora (HP:0012880)1.70637629
97Ketoacidosis (HP:0001993)1.67948102
98Congenital, generalized hypertrichosis (HP:0004540)1.66133002
99Retinal dysplasia (HP:0007973)1.65101947
100Short foot (HP:0001773)1.64779949

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.54141714
2MAP4K23.28806921
3WNK33.22123688
4BMPR1B2.71754456
5ADRBK22.60610893
6PINK12.51325820
7GRK12.37900935
8ACVR1B2.24806120
9ZAK2.14702524
10TXK2.07983461
11NUAK12.07377014
12OXSR12.01300393
13TAOK32.00689899
14INSRR1.88862401
15MAPK131.80867064
16CASK1.68808670
17WNK41.39436833
18MAP3K41.37081071
19CDK191.36115184
20STK391.31811441
21BCR1.30116709
22MKNK21.21874881
23TRIM281.19915550
24NTRK31.16526222
25TNIK1.16160869
26CAMKK21.12731546
27FER1.08465455
28DAPK21.04471915
29ADRBK11.03899156
30STK38L1.02668236
31TEC0.98051768
32PRKCE0.95850095
33EIF2AK30.90002573
34EPHA40.89434065
35MAP2K70.83439437
36TIE10.82219824
37MARK10.80939411
38IRAK10.79712560
39PLK20.79322473
40MAP3K70.78720488
41TLK10.77975487
42PAK30.77697413
43MKNK10.77426695
44TGFBR10.77147965
45STK30.74587441
46PRKCG0.73887345
47MAPKAPK30.70933471
48EPHA30.67543549
49ERBB30.65577264
50CSNK1G20.65251481
51AKT30.63291281
52PTK2B0.62943626
53PIK3CA0.62938231
54TNK20.61587361
55CSNK1G10.59930337
56PIK3CG0.59088389
57BRSK20.56512313
58IKBKB0.56490368
59DYRK20.56399354
60CSNK1G30.53342781
61CSNK1A1L0.52992347
62NLK0.52830539
63CAMK2A0.51588524
64FLT30.51126262
65PNCK0.49940873
66PRKAA20.47772542
67CAMK10.47462073
68NTRK20.47311874
69MAPKAPK50.47208750
70PKN10.44033364
71ITK0.43669797
72PRKCQ0.42106540
73PRKACA0.40384066
74PRKCZ0.39379262
75BCKDK0.38629558
76PLK40.38436025
77STK110.38205493
78MUSK0.37167496
79CSNK1D0.36144558
80PRKG10.36032934
81CSNK1A10.35867920
82OBSCN0.35606974
83KIT0.35598565
84VRK10.34941587
85MST40.34603321
86PRKCA0.33724785
87SIK20.33357872
88CHEK20.33305099
89RPS6KA50.32856336
90MAP2K60.31732059
91IGF1R0.31229825
92CDK30.31006285
93TRPM70.31004449
94FGFR20.30811371
95CHUK0.29871157
96CAMK40.29528623
97GRK50.29395187
98MARK30.28997054
99ERBB20.28310856
100PRKAA10.27987669

Predicted pathways (KEGG)

RankGene SetZ-score
1Butanoate metabolism_Homo sapiens_hsa006502.84093523
2Phototransduction_Homo sapiens_hsa047442.81467667
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.62625944
4Linoleic acid metabolism_Homo sapiens_hsa005912.59967122
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.47119810
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.46445114
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.43901869
8Nicotine addiction_Homo sapiens_hsa050332.37711846
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.33084288
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.18889545
11Nitrogen metabolism_Homo sapiens_hsa009102.16614424
12Ether lipid metabolism_Homo sapiens_hsa005652.09524106
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.07024866
14Propanoate metabolism_Homo sapiens_hsa006402.02446531
15Tryptophan metabolism_Homo sapiens_hsa003801.99618728
16Selenocompound metabolism_Homo sapiens_hsa004501.98428024
17Homologous recombination_Homo sapiens_hsa034401.82918220
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.80491883
19Fanconi anemia pathway_Homo sapiens_hsa034601.71273466
20Olfactory transduction_Homo sapiens_hsa047401.63089080
21Taste transduction_Homo sapiens_hsa047421.62211560
22ABC transporters_Homo sapiens_hsa020101.60910582
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60860180
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.58358815
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.56982190
26Caffeine metabolism_Homo sapiens_hsa002321.55240274
27Morphine addiction_Homo sapiens_hsa050321.48352963
28Arachidonic acid metabolism_Homo sapiens_hsa005901.32709730
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32065522
30Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.29031465
31Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.28946853
32Retinol metabolism_Homo sapiens_hsa008301.25714372
33Serotonergic synapse_Homo sapiens_hsa047261.25683182
34Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.20723073
35Glycerolipid metabolism_Homo sapiens_hsa005611.19783315
36Chemical carcinogenesis_Homo sapiens_hsa052041.17280652
37Basal transcription factors_Homo sapiens_hsa030221.13201418
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.11264495
39Peroxisome_Homo sapiens_hsa041461.10979215
40Circadian entrainment_Homo sapiens_hsa047131.09369095
41GABAergic synapse_Homo sapiens_hsa047271.09064421
42Histidine metabolism_Homo sapiens_hsa003401.05607957
43Intestinal immune network for IgA production_Homo sapiens_hsa046721.03631917
44Glutamatergic synapse_Homo sapiens_hsa047240.97647281
45Protein export_Homo sapiens_hsa030600.97612635
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.96897531
47Calcium signaling pathway_Homo sapiens_hsa040200.95980734
48Regulation of autophagy_Homo sapiens_hsa041400.93250990
49Dorso-ventral axis formation_Homo sapiens_hsa043200.92160790
50Ovarian steroidogenesis_Homo sapiens_hsa049130.90120395
51beta-Alanine metabolism_Homo sapiens_hsa004100.87364078
52* Salivary secretion_Homo sapiens_hsa049700.87252475
53Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.87045760
54Insulin secretion_Homo sapiens_hsa049110.86331826
55Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.86118479
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.85459073
57Fatty acid biosynthesis_Homo sapiens_hsa000610.84454475
58Glycosaminoglycan degradation_Homo sapiens_hsa005310.83825304
59RNA degradation_Homo sapiens_hsa030180.83606525
60Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83390175
61One carbon pool by folate_Homo sapiens_hsa006700.79908324
62Circadian rhythm_Homo sapiens_hsa047100.79559628
63Non-homologous end-joining_Homo sapiens_hsa034500.79089367
64RNA polymerase_Homo sapiens_hsa030200.76252863
65Asthma_Homo sapiens_hsa053100.74789476
66Fat digestion and absorption_Homo sapiens_hsa049750.73266534
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68467178
68Vascular smooth muscle contraction_Homo sapiens_hsa042700.65355500
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.63769770
70Fatty acid degradation_Homo sapiens_hsa000710.60777457
71cAMP signaling pathway_Homo sapiens_hsa040240.60239027
72Sphingolipid metabolism_Homo sapiens_hsa006000.57366331
73Glycerophospholipid metabolism_Homo sapiens_hsa005640.55670037
74Long-term depression_Homo sapiens_hsa047300.54694118
75Purine metabolism_Homo sapiens_hsa002300.53043986
76Primary immunodeficiency_Homo sapiens_hsa053400.52961807
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.52943960
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52422558
79Fatty acid metabolism_Homo sapiens_hsa012120.52036910
80Oxytocin signaling pathway_Homo sapiens_hsa049210.52028933
81Metabolic pathways_Homo sapiens_hsa011000.51317070
82Gastric acid secretion_Homo sapiens_hsa049710.51252548
83Cyanoamino acid metabolism_Homo sapiens_hsa004600.50894033
84Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.49107035
85Cholinergic synapse_Homo sapiens_hsa047250.47075027
86Dopaminergic synapse_Homo sapiens_hsa047280.46683448
87Lysine degradation_Homo sapiens_hsa003100.45792894
88Oxidative phosphorylation_Homo sapiens_hsa001900.45508735
89Graft-versus-host disease_Homo sapiens_hsa053320.41366603
90Renin secretion_Homo sapiens_hsa049240.39783765
91Type I diabetes mellitus_Homo sapiens_hsa049400.39735990
92Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38991106
93Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38929860
94Sulfur metabolism_Homo sapiens_hsa009200.38149423
95Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.36791929
96Pancreatic secretion_Homo sapiens_hsa049720.32273197
97Collecting duct acid secretion_Homo sapiens_hsa049660.28817364
98Mineral absorption_Homo sapiens_hsa049780.27750431
99Steroid biosynthesis_Homo sapiens_hsa001000.25399760
100Vitamin digestion and absorption_Homo sapiens_hsa049770.23832626

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