RPSAP48

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
1behavioral response to nicotine (GO:0035095)6.62474900
2membrane depolarization during cardiac muscle cell action potential (GO:0086012)6.38438460
3membrane repolarization during cardiac muscle cell action potential (GO:0086013)5.80986786
4membrane repolarization during action potential (GO:0086011)5.44175950
5mitochondrial respiratory chain complex I assembly (GO:0032981)5.02480321
6NADH dehydrogenase complex assembly (GO:0010257)5.02480321
7mitochondrial respiratory chain complex I biogenesis (GO:0097031)5.02480321
8protein complex biogenesis (GO:0070271)4.88335886
9sulfation (GO:0051923)4.84215636
10water-soluble vitamin biosynthetic process (GO:0042364)4.70775107
11cell proliferation in forebrain (GO:0021846)4.49920876
12mitochondrial respiratory chain complex assembly (GO:0033108)4.37480165
13regulation of DNA endoreduplication (GO:0032875)4.16797503
14regulation of membrane repolarization (GO:0060306)4.09001706
15serotonin metabolic process (GO:0042428)4.07316870
16positive regulation of synapse maturation (GO:0090129)4.06306177
17magnesium ion transport (GO:0015693)4.02576286
18membrane repolarization (GO:0086009)3.95780629
19primary amino compound metabolic process (GO:1901160)3.75733141
20regulation of mesoderm development (GO:2000380)3.75014614
21negative regulation of membrane potential (GO:0045837)3.72472428
22ovulation cycle (GO:0042698)3.72379595
23positive regulation of potassium ion transmembrane transport (GO:1901381)3.67682646
24regulation of synapse maturation (GO:0090128)3.64001747
25DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.57486161
26regulation of skeletal muscle contraction (GO:0014819)3.52999621
27parturition (GO:0007567)3.52700583
28negative regulation of appetite (GO:0032099)3.48711597
29negative regulation of response to food (GO:0032096)3.48711597
30negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.46591918
31cellular response to exogenous dsRNA (GO:0071360)3.45300173
32protein polyglutamylation (GO:0018095)3.36300766
33indolalkylamine metabolic process (GO:0006586)3.34080353
34gamma-aminobutyric acid transport (GO:0015812)3.33943575
35negative regulation of systemic arterial blood pressure (GO:0003085)3.33355589
36negative regulation of transcription regulatory region DNA binding (GO:2000678)3.31722008
37positive regulation of endothelial cell differentiation (GO:0045603)3.31491201
38cellular potassium ion homeostasis (GO:0030007)3.29057611
39somite development (GO:0061053)3.28638025
40cellular response to electrical stimulus (GO:0071257)3.27895266
41retinal ganglion cell axon guidance (GO:0031290)3.26062229
42membrane depolarization during action potential (GO:0086010)3.24871762
43dentate gyrus development (GO:0021542)3.23478793
44positive regulation of fatty acid oxidation (GO:0046321)3.20753755
45regulation of potassium ion transmembrane transport (GO:1901379)3.16386477
46DNA deamination (GO:0045006)3.14559249
47cardiovascular system development (GO:0072358)3.13487009
48DNA damage response, signal transduction resulting in transcription (GO:0042772)3.11680263
49regulation of glomerulus development (GO:0090192)3.11134488
50response to xenobiotic stimulus (GO:0009410)3.08906103
51protein neddylation (GO:0045116)3.08870782
52establishment of protein localization to mitochondrial membrane (GO:0090151)3.06188652
53vitamin A metabolic process (GO:0006776)3.04637383
54positive regulation of fatty acid beta-oxidation (GO:0032000)3.04198762
55transmission of nerve impulse (GO:0019226)3.03390683
56cellular anion homeostasis (GO:0030002)3.00566031
57regulation of endothelial cell differentiation (GO:0045601)3.00187702
58regulation of germinal center formation (GO:0002634)2.99195535
59pharyngeal system development (GO:0060037)2.97997652
60positive regulation of cardiac muscle cell differentiation (GO:2000727)2.89916073
61indole-containing compound metabolic process (GO:0042430)2.86351192
62dendritic spine morphogenesis (GO:0060997)2.81756536
63endoderm formation (GO:0001706)2.79906540
64mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.79511332
65interferon-gamma secretion (GO:0072643)2.79278397
66regulation of heart rate by cardiac conduction (GO:0086091)2.74061574
67multicellular organismal signaling (GO:0035637)2.70798402
68regulation of transcription regulatory region DNA binding (GO:2000677)2.70108892
693-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.69032819
70purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.69032819
71negative regulation of protein localization to cell surface (GO:2000009)2.67970932
72epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.66712814
73activated T cell proliferation (GO:0050798)2.65784132
74positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.64537044
75potassium ion import (GO:0010107)2.59795691
76cellular response to ATP (GO:0071318)2.58104684
77negative regulation of DNA-templated transcription, elongation (GO:0032785)2.57684498
78prostate gland growth (GO:0060736)2.53920361
79neuronal action potential (GO:0019228)2.53403041
80regulation of action potential (GO:0098900)2.48206780
81negative regulation of synaptic transmission, GABAergic (GO:0032229)2.48139404
82positive regulation of glomerulus development (GO:0090193)2.47033325
83regulation of gene silencing by RNA (GO:0060966)2.45499513
84regulation of posttranscriptional gene silencing (GO:0060147)2.45499513
85regulation of gene silencing by miRNA (GO:0060964)2.45499513
86regulation of female receptivity (GO:0045924)2.45354408
87action potential (GO:0001508)2.45345142
88spinal cord development (GO:0021510)2.45038125
89detection of light stimulus involved in visual perception (GO:0050908)2.44316458
90detection of light stimulus involved in sensory perception (GO:0050962)2.44316458
91monoubiquitinated protein deubiquitination (GO:0035520)2.42402400
92protein K48-linked deubiquitination (GO:0071108)2.42325327
93behavioral defense response (GO:0002209)2.41580419
94behavioral fear response (GO:0001662)2.41580419
95adaptation of signaling pathway (GO:0023058)2.40989504
96cardiac conduction (GO:0061337)2.40861489
97tooth mineralization (GO:0034505)2.40335762
98response to electrical stimulus (GO:0051602)2.39766314
99spinal cord motor neuron differentiation (GO:0021522)2.39546711
100positive regulation of defense response to virus by host (GO:0002230)2.39069884

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.55801346
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.91665336
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.43604704
4RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.12527637
5EED_16625203_ChIP-ChIP_MESCs_Mouse2.84951562
6VDR_22108803_ChIP-Seq_LS180_Human2.54171360
7BMI1_23680149_ChIP-Seq_NPCS_Mouse2.44830814
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42782711
9GBX2_23144817_ChIP-Seq_PC3_Human2.38093673
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.30794020
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.29101630
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.27662449
13STAT6_21828071_ChIP-Seq_BEAS2B_Human2.25695051
14CBX2_27304074_Chip-Seq_ESCs_Mouse2.19361890
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.17626351
16SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.11569852
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.08772684
18IRF1_19129219_ChIP-ChIP_H3396_Human2.07017520
19ZNF274_21170338_ChIP-Seq_K562_Hela2.02134898
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.01405632
21RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.94177695
22SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.92492555
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.89785532
24EZH2_27294783_Chip-Seq_ESCs_Mouse1.86000361
25PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.85816937
26SUZ12_27294783_Chip-Seq_ESCs_Mouse1.84619476
27RNF2_18974828_ChIP-Seq_MESCs_Mouse1.84553679
28EZH2_18974828_ChIP-Seq_MESCs_Mouse1.84553679
29REST_21632747_ChIP-Seq_MESCs_Mouse1.80843674
30RNF2_27304074_Chip-Seq_NSC_Mouse1.78413568
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.73976261
32CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.73337645
33RNF2_27304074_Chip-Seq_ESCs_Mouse1.71712302
34EWS_26573619_Chip-Seq_HEK293_Human1.71303944
35TAF15_26573619_Chip-Seq_HEK293_Human1.68067290
36SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.66272334
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65636626
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56938912
39P300_19829295_ChIP-Seq_ESCs_Human1.48628535
40FUS_26573619_Chip-Seq_HEK293_Human1.45627254
41MTF2_20144788_ChIP-Seq_MESCs_Mouse1.44136815
42SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.38833201
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.37346051
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33874987
45POU3F2_20337985_ChIP-ChIP_501MEL_Human1.33711346
46TP53_20018659_ChIP-ChIP_R1E_Mouse1.33494700
47MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.32056009
48HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.31582758
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.29005274
50UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.28614127
51AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27045719
52NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24462912
53REST_18959480_ChIP-ChIP_MESCs_Mouse1.22700903
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.19470341
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18276600
56CBP_20019798_ChIP-Seq_JUKART_Human1.17596835
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17596835
58TDRD3_21172665_ChIP-Seq_MCF-7_Human1.16510745
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15964774
60P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15452931
61SMAD4_21799915_ChIP-Seq_A2780_Human1.14128510
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12997172
63TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12997172
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.12811423
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.12409599
66IGF1R_20145208_ChIP-Seq_DFB_Human1.12038961
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11138182
68POU5F1_16153702_ChIP-ChIP_HESCs_Human1.11025712
69STAT3_23295773_ChIP-Seq_U87_Human1.08731879
70AR_25329375_ChIP-Seq_VCAP_Human1.08476119
71ER_23166858_ChIP-Seq_MCF-7_Human1.08385517
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.07693952
73AUTS2_25519132_ChIP-Seq_293T-REX_Human1.06809646
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06589338
75BCAT_22108803_ChIP-Seq_LS180_Human1.06075202
76CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05881012
77NCOR_22424771_ChIP-Seq_293T_Human1.05143895
78SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04297555
79OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03886277
80TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.03530784
81MYC_18940864_ChIP-ChIP_HL60_Human1.03324791
82FLI1_27457419_Chip-Seq_LIVER_Mouse1.02947104
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02899289
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02444742
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02268415
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.01861041
87TCF4_23295773_ChIP-Seq_U87_Human1.01166088
88KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00726294
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00389623
90TAL1_26923725_Chip-Seq_HPCs_Mouse0.99708442
91RXR_22108803_ChIP-Seq_LS180_Human0.96727057
92CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.93333357
93JUN_21703547_ChIP-Seq_K562_Human0.93132959
94PRDM14_20953172_ChIP-Seq_ESCs_Human0.92588578
95LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91996020
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91991749
97GATA3_21878914_ChIP-Seq_MCF-7_Human0.90520318
98NOTCH1_21737748_ChIP-Seq_TLL_Human0.89580432
99FLI1_21867929_ChIP-Seq_TH2_Mouse0.88598234
100NANOG_19829295_ChIP-Seq_ESCs_Human0.87494222

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue4.03698482
2MP0002837_dystrophic_cardiac_calcinosis3.36860614
3MP0004885_abnormal_endolymph3.04716781
4MP0006292_abnormal_olfactory_placode2.95954707
5MP0001485_abnormal_pinna_reflex2.40859588
6MP0002160_abnormal_reproductive_system2.40458633
7MP0005646_abnormal_pituitary_gland2.30102351
8MP0001968_abnormal_touch/_nociception2.27458412
9MP0004145_abnormal_muscle_electrophysio2.24854979
10MP0001440_abnormal_grooming_behavior2.17331696
11MP0006072_abnormal_retinal_apoptosis2.16029257
12MP0004130_abnormal_muscle_cell2.10412959
13MP0002272_abnormal_nervous_system2.07183112
14MP0000049_abnormal_middle_ear2.05440431
15MP0005389_reproductive_system_phenotype1.90694703
16MP0003011_delayed_dark_adaptation1.88529351
17MP0002736_abnormal_nociception_after1.87776829
18MP0008877_abnormal_DNA_methylation1.87059314
19MP0004742_abnormal_vestibular_system1.82019598
20MP0009745_abnormal_behavioral_response1.81269916
21MP0008775_abnormal_heart_ventricle1.80410460
22MP0003879_abnormal_hair_cell1.78082981
23MP0004133_heterotaxia1.75628310
24MP0000631_abnormal_neuroendocrine_gland1.74570191
25MP0004142_abnormal_muscle_tone1.71407094
26MP0002735_abnormal_chemical_nociception1.70969271
27MP0000569_abnormal_digit_pigmentation1.70912528
28MP0009379_abnormal_foot_pigmentation1.65717262
29MP0005551_abnormal_eye_electrophysiolog1.64736189
30MP0001905_abnormal_dopamine_level1.56879640
31MP0001486_abnormal_startle_reflex1.53408213
32MP0002138_abnormal_hepatobiliary_system1.51636417
33MP0002733_abnormal_thermal_nociception1.50093371
34MP0002876_abnormal_thyroid_physiology1.46342392
35MP0009046_muscle_twitch1.45277090
36MP0002102_abnormal_ear_morphology1.44942155
37MP0002064_seizures1.43517729
38MP0000026_abnormal_inner_ear1.43150894
39MP0003635_abnormal_synaptic_transmissio1.36761686
40MP0001970_abnormal_pain_threshold1.33360601
41MP0003880_abnormal_central_pattern1.33140683
42MP0002572_abnormal_emotion/affect_behav1.32320631
43MP0002638_abnormal_pupillary_reflex1.30334703
44MP0002557_abnormal_social/conspecific_i1.29633206
45MP0003787_abnormal_imprinting1.28384274
46MP0008872_abnormal_physiological_respon1.28194535
47MP0002938_white_spotting1.26910420
48MP0002184_abnormal_innervation1.26694272
49MP0009250_abnormal_appendicular_skeleto1.26603042
50MP0001963_abnormal_hearing_physiology1.26158905
51MP0006276_abnormal_autonomic_nervous1.24915060
52MP0002653_abnormal_ependyma_morphology1.22317851
53MP0003890_abnormal_embryonic-extraembry1.22142170
54MP0005423_abnormal_somatic_nervous1.22089415
55MP0000230_abnormal_systemic_arterial1.20633262
56MP0005253_abnormal_eye_physiology1.20080532
57MP0002063_abnormal_learning/memory/cond1.18248921
58MP0003283_abnormal_digestive_organ1.18085547
59MP0003119_abnormal_digestive_system1.16005240
60MP0003942_abnormal_urinary_system1.15064444
61MP0003122_maternal_imprinting1.14442751
62MP0001919_abnormal_reproductive_system1.13610934
63MP0003937_abnormal_limbs/digits/tail_de1.11519772
64MP0003938_abnormal_ear_development1.10375125
65MP0002752_abnormal_somatic_nervous1.07368716
66MP0002928_abnormal_bile_duct1.06134059
67MP0002734_abnormal_mechanical_nocicepti1.05957905
68MP0004215_abnormal_myocardial_fiber1.04623824
69MP0004134_abnormal_chest_morphology1.04510443
70MP0004085_abnormal_heartbeat1.04278252
71MP0002067_abnormal_sensory_capabilities1.04062143
72MP0000778_abnormal_nervous_system1.03352241
73MP0002163_abnormal_gland_morphology1.01779526
74MP0008789_abnormal_olfactory_epithelium1.01346491
75MP0001502_abnormal_circadian_rhythm1.00155547
76MP0009053_abnormal_anal_canal0.98870077
77MP0005386_behavior/neurological_phenoty0.98669613
78MP0004924_abnormal_behavior0.98669613
79MP0005084_abnormal_gallbladder_morpholo0.97134243
80MP0005195_abnormal_posterior_eye0.94834171
81MP0003567_abnormal_fetal_cardiomyocyte0.94446366
82MP0003123_paternal_imprinting0.94422214
83MP0003121_genomic_imprinting0.93650805
84MP0002277_abnormal_respiratory_mucosa0.89933174
85MP0003195_calcinosis0.87291276
86MP0001986_abnormal_taste_sensitivity0.86498434
87MP0004019_abnormal_vitamin_homeostasis0.86377023
88MP0004859_abnormal_synaptic_plasticity0.85626924
89MP0000955_abnormal_spinal_cord0.84016610
90MP0002882_abnormal_neuron_morphology0.82049470
91MP0001188_hyperpigmentation0.81708280
92MP0002932_abnormal_joint_morphology0.80711348
93MP0001529_abnormal_vocalization0.76773757
94MP0003137_abnormal_impulse_conducting0.76238531
95MP0001765_abnormal_ion_homeostasis0.76063792
96MP0002229_neurodegeneration0.73399348
97MP0000534_abnormal_ureter_morphology0.72759616
98MP0009384_cardiac_valve_regurgitation0.70331183
99MP0003638_abnormal_response/metabolism_0.70256800
100MP0003633_abnormal_nervous_system0.66589363

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the proximal phalanges of the hand (HP:0009834)3.63803853
2Short femoral neck (HP:0100864)3.51805393
3Abolished electroretinogram (ERG) (HP:0000550)3.36988624
4Abnormality of the phalanges of the 2nd finger (HP:0009541)3.36011616
5Abnormality of the middle phalanges of the toes (HP:0010183)3.26237836
6Short 4th metacarpal (HP:0010044)3.25608206
7Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.25608206
8Pancreatic cysts (HP:0001737)3.22856402
9Abnormality of the middle phalanx of the 5th finger (HP:0004219)3.18468594
10Short tibia (HP:0005736)3.18321019
11Congenital, generalized hypertrichosis (HP:0004540)3.16511797
12Decreased circulating renin level (HP:0003351)3.16113952
13Aplasia/Hypoplasia of the tibia (HP:0005772)3.13824410
14Pancreatic fibrosis (HP:0100732)3.13259112
15Mesomelia (HP:0003027)3.11468862
16Conjunctival hamartoma (HP:0100780)3.10147731
17Nephronophthisis (HP:0000090)3.04832637
18Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.00148315
19Abnormality of the phalanges of the 5th finger (HP:0004213)2.97332867
20Hypoplasia of the uterus (HP:0000013)2.97049877
21True hermaphroditism (HP:0010459)2.96824623
22Progressive cerebellar ataxia (HP:0002073)2.92788912
23Congenital stationary night blindness (HP:0007642)2.89807386
24Fibular aplasia (HP:0002990)2.85683137
25Meningioma (HP:0002858)2.85332681
26Pendular nystagmus (HP:0012043)2.84777910
27Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.82811540
28Symphalangism affecting the phalanges of the hand (HP:0009773)2.82338006
29Hypoplasia of the ulna (HP:0003022)2.79306002
30Aplasia/Hypoplasia of the fibula (HP:0006492)2.76975232
31Megalencephaly (HP:0001355)2.76699532
32Genetic anticipation (HP:0003743)2.74177518
33Cutaneous melanoma (HP:0012056)2.69954238
34Short hallux (HP:0010109)2.69061988
35Methylmalonic acidemia (HP:0002912)2.66529526
36Abnormality of the 4th metacarpal (HP:0010012)2.64640419
37Molar tooth sign on MRI (HP:0002419)2.63614662
38Abnormality of midbrain morphology (HP:0002418)2.63614662
39Clumsiness (HP:0002312)2.63397114
40Decreased electroretinogram (ERG) amplitude (HP:0000654)2.59850193
41Aplasia/Hypoplasia of the hallux (HP:0008362)2.59506222
42Abnormality of the renal collecting system (HP:0004742)2.58054012
43Aplasia/hypoplasia of the uterus (HP:0008684)2.50869469
44Abnormality of the renal medulla (HP:0100957)2.49134428
45Adactyly (HP:0009776)2.48823054
46Absent rod-and cone-mediated responses on ERG (HP:0007688)2.45964470
47Furrowed tongue (HP:0000221)2.44129623
48Fibular hypoplasia (HP:0003038)2.42974886
49Aplasia/hypoplasia of the femur (HP:0005613)2.33908989
50Radial bowing (HP:0002986)2.33900148
51Goiter (HP:0000853)2.30810264
52Metabolic alkalosis (HP:0200114)2.28522400
53Aplasia/Hypoplasia of the spleen (HP:0010451)2.27402789
54Methylmalonic aciduria (HP:0012120)2.26863479
55Agitation (HP:0000713)2.26661240
56Asplenia (HP:0001746)2.25379880
57Aplasia/Hypoplasia of the ulna (HP:0006495)2.24881575
58Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.24342612
59Decreased central vision (HP:0007663)2.24213690
60Congenital sensorineural hearing impairment (HP:0008527)2.22397664
61Hamartoma of the eye (HP:0010568)2.18096900
62Stenosis of the external auditory canal (HP:0000402)2.17738011
63Abnormal rod and cone electroretinograms (HP:0008323)2.16554916
64Morphological abnormality of the middle ear (HP:0008609)2.15260058
653-Methylglutaconic aciduria (HP:0003535)2.12395264
66Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.10088345
67Small hand (HP:0200055)2.07927771
68Synostosis of carpal bones (HP:0005048)2.07724180
69Hyperglycinemia (HP:0002154)2.07145632
70Abnormality of the renal cortex (HP:0011035)2.06190375
71Mitochondrial inheritance (HP:0001427)2.04399133
72Bone cyst (HP:0012062)2.03169273
73Keratoconus (HP:0000563)2.02300445
74Increased corneal curvature (HP:0100692)2.02300445
75Acute necrotizing encephalopathy (HP:0006965)2.02266116
76Chorioretinal atrophy (HP:0000533)2.02216662
77Abnormality of the nasal septum (HP:0000419)2.00957874
78Septo-optic dysplasia (HP:0100842)1.99509510
79Cystic liver disease (HP:0006706)1.99327644
80Aplasia/Hypoplasia of the patella (HP:0006498)1.98215883
81Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.97439955
82Abnormality of alanine metabolism (HP:0010916)1.97439955
83Hyperalaninemia (HP:0003348)1.97439955
84Sclerocornea (HP:0000647)1.97151296
85Abnormal number of erythroid precursors (HP:0012131)1.97122816
86Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.94461683
87Osteomalacia (HP:0002749)1.93332825
88Medial flaring of the eyebrow (HP:0010747)1.92881013
89Broad-based gait (HP:0002136)1.88357114
90Abnormality of the 2nd finger (HP:0004100)1.87393011
91Abnormality of cells of the erythroid lineage (HP:0012130)1.86944029
92Anomalous pulmonary venous return (HP:0010772)1.86764123
93Progressive macrocephaly (HP:0004481)1.86516266
94Short 1st metacarpal (HP:0010034)1.83375017
95Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.83375017
96Absent thumb (HP:0009777)1.82185774
97Persistence of primary teeth (HP:0006335)1.81389882
98Forearm undergrowth (HP:0009821)1.80756789
99Male pseudohermaphroditism (HP:0000037)1.80298138
100Preauricular pit (HP:0004467)1.80177486

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.09253440
2TLK13.19208802
3GRK13.11412431
4ADRBK22.94468708
5TAOK32.41802835
6BMPR1B2.34941013
7CASK2.17966528
8WNK42.07686409
9PINK12.02606681
10ZAK2.00462455
11NUAK11.78394527
12SGK21.73099526
13TAF11.71389564
14WNK31.58438843
15SGK4941.57597211
16SGK2231.57597211
17TNIK1.53680890
18DYRK21.53443664
19MAPK131.48677851
20GRK71.48460457
21MAP4K21.46608082
22STK161.45527513
23MAP3K41.45371004
24TIE11.44523186
25ACVR1B1.38597330
26BCKDK1.36426756
27TXK1.31043904
28INSRR1.29030397
29NTRK31.28605372
30PHKG11.20427137
31PHKG21.20427137
32NTRK21.19146262
33EPHB21.17910071
34MAP2K71.17320302
35RPS6KA21.17209292
36ADRBK11.14138008
37RPS6KA61.10460360
38GRK51.07615089
39FGFR21.06583424
40MARK11.05009504
41PRKCG1.01721193
42CSNK1G20.95828655
43DAPK20.95518904
44STK390.94883148
45PIK3CA0.94667946
46IKBKB0.94625559
47SGK30.91342559
48VRK20.87893743
49PLK20.87333252
50ERBB20.83980138
51RPS6KL10.82663922
52RPS6KC10.82663922
53PRKACA0.82162793
54CSNK1G30.82120920
55DYRK30.81511014
56VRK10.81049853
57WNK10.81044828
58PAK30.79976183
59MAPKAPK50.78332063
60NEK90.77609598
61OXSR10.77167781
62MAPK150.76648202
63MUSK0.76301110
64PRKCE0.74876025
65CSNK1G10.74040291
66STK110.73624652
67SGK10.73270064
68CSNK1A1L0.68543925
69MAP3K90.67799086
70OBSCN0.67759200
71CSNK1A10.67157506
72TEC0.65268849
73PTK2B0.64560799
74PRKD20.62451158
75CAMKK20.61532039
76RPS6KA50.60841535
77CAMK2A0.59840634
78AURKA0.58468965
79PNCK0.54724024
80PRKACG0.52021675
81ABL20.51640107
82SIK20.51145585
83ITK0.50831793
84PKN10.50755911
85HIPK20.50107484
86CAMK10.49984447
87PRKCQ0.48054576
88CHUK0.45868704
89PRKCA0.45845059
90MAPK40.45637480
91PRKCZ0.44588705
92MAP3K110.43795955
93NME10.43415225
94CDK190.39903374
95CAMK2B0.39705750
96MAP2K40.38850011
97MAPKAPK30.38650887
98MAP2K20.38098454
99TGFBR10.37297953
100KIT0.37062315

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001902.96264150
2Nicotine addiction_Homo sapiens_hsa050332.70570865
3Maturity onset diabetes of the young_Homo sapiens_hsa049502.45319598
4Phototransduction_Homo sapiens_hsa047442.37059295
5Sulfur metabolism_Homo sapiens_hsa009202.31836759
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.29088536
7Parkinsons disease_Homo sapiens_hsa050122.28372206
8Cardiac muscle contraction_Homo sapiens_hsa042602.21518431
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.13045496
10Ribosome_Homo sapiens_hsa030102.09520744
11Morphine addiction_Homo sapiens_hsa050321.97173073
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.87171573
13Alzheimers disease_Homo sapiens_hsa050101.83488941
14Linoleic acid metabolism_Homo sapiens_hsa005911.76766658
15Protein export_Homo sapiens_hsa030601.76235444
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.68185156
17Serotonergic synapse_Homo sapiens_hsa047261.64216423
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.62928906
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.61556782
20Tryptophan metabolism_Homo sapiens_hsa003801.60964871
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.60769963
22Nitrogen metabolism_Homo sapiens_hsa009101.60703916
23Glutamatergic synapse_Homo sapiens_hsa047241.59389492
24Huntingtons disease_Homo sapiens_hsa050161.56501491
25Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.55346430
26Circadian entrainment_Homo sapiens_hsa047131.52792046
27Retinol metabolism_Homo sapiens_hsa008301.50507305
28GABAergic synapse_Homo sapiens_hsa047271.50048069
29Vitamin digestion and absorption_Homo sapiens_hsa049771.47703731
30Insulin secretion_Homo sapiens_hsa049111.45844338
31Intestinal immune network for IgA production_Homo sapiens_hsa046721.40163556
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.34723892
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.33625279
34Taste transduction_Homo sapiens_hsa047421.33319192
35Olfactory transduction_Homo sapiens_hsa047401.21473968
36Cholinergic synapse_Homo sapiens_hsa047251.21396610
37RNA polymerase_Homo sapiens_hsa030201.17790987
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.16109975
39Basal transcription factors_Homo sapiens_hsa030221.16089240
40Chemical carcinogenesis_Homo sapiens_hsa052041.14665883
41Type II diabetes mellitus_Homo sapiens_hsa049301.10623102
42Selenocompound metabolism_Homo sapiens_hsa004501.09704709
43Renin secretion_Homo sapiens_hsa049241.06495945
44Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02826139
45Sulfur relay system_Homo sapiens_hsa041221.01730041
46Dopaminergic synapse_Homo sapiens_hsa047281.01609014
47RNA degradation_Homo sapiens_hsa030181.00513539
48Glycerolipid metabolism_Homo sapiens_hsa005610.98545652
49Caffeine metabolism_Homo sapiens_hsa002320.98462639
50Ether lipid metabolism_Homo sapiens_hsa005650.98081605
51Steroid hormone biosynthesis_Homo sapiens_hsa001400.94926180
52Collecting duct acid secretion_Homo sapiens_hsa049660.94885691
53Gastric acid secretion_Homo sapiens_hsa049710.93510050
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.93250658
55Calcium signaling pathway_Homo sapiens_hsa040200.91302596
56Peroxisome_Homo sapiens_hsa041460.86769777
57Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.86535951
58Oxytocin signaling pathway_Homo sapiens_hsa049210.85076066
59Homologous recombination_Homo sapiens_hsa034400.82623345
60Hedgehog signaling pathway_Homo sapiens_hsa043400.80223939
61Amphetamine addiction_Homo sapiens_hsa050310.79350625
62Basal cell carcinoma_Homo sapiens_hsa052170.77338202
63Cocaine addiction_Homo sapiens_hsa050300.77239775
64Asthma_Homo sapiens_hsa053100.75071300
65Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.73878498
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.72536291
67Melanoma_Homo sapiens_hsa052180.72129405
68Fanconi anemia pathway_Homo sapiens_hsa034600.71332438
69Dorso-ventral axis formation_Homo sapiens_hsa043200.69322822
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68875747
71Arachidonic acid metabolism_Homo sapiens_hsa005900.65203559
72Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.63032756
73MAPK signaling pathway_Homo sapiens_hsa040100.63031900
74Ovarian steroidogenesis_Homo sapiens_hsa049130.62911568
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.62649378
76cAMP signaling pathway_Homo sapiens_hsa040240.62157975
77Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61235290
78Salivary secretion_Homo sapiens_hsa049700.61190885
79Butanoate metabolism_Homo sapiens_hsa006500.60055202
80Systemic lupus erythematosus_Homo sapiens_hsa053220.59476388
81Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.59098801
82Axon guidance_Homo sapiens_hsa043600.59010087
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.58120773
84Fat digestion and absorption_Homo sapiens_hsa049750.52330171
85Primary bile acid biosynthesis_Homo sapiens_hsa001200.52034241
86Synaptic vesicle cycle_Homo sapiens_hsa047210.50066210
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47708712
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.46687903
89Long-term depression_Homo sapiens_hsa047300.44248551
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.42791500
91Alcoholism_Homo sapiens_hsa050340.42583167
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41675806
93Ras signaling pathway_Homo sapiens_hsa040140.41359777
94Regulation of autophagy_Homo sapiens_hsa041400.40862860
95One carbon pool by folate_Homo sapiens_hsa006700.39892081
96ABC transporters_Homo sapiens_hsa020100.39544083
97Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.37168691
98Metabolic pathways_Homo sapiens_hsa011000.35123325
99Fatty acid biosynthesis_Homo sapiens_hsa000610.33242798
100Mineral absorption_Homo sapiens_hsa049780.32386694

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