MRPL49P1

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
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)6.21043272
2regulation of memory T cell differentiation (GO:0043380)5.50838339
3response to pheromone (GO:0019236)5.02764234
4epithelial cilium movement (GO:0003351)4.90989369
5behavioral response to nicotine (GO:0035095)4.66899756
6axonemal dynein complex assembly (GO:0070286)4.41833495
7L-fucose catabolic process (GO:0042355)4.16469158
8fucose catabolic process (GO:0019317)4.16469158
9L-fucose metabolic process (GO:0042354)4.16469158
10establishment of protein localization to mitochondrial membrane (GO:0090151)4.12927041
11cilium movement (GO:0003341)4.06558842
12indolalkylamine metabolic process (GO:0006586)3.86069818
13G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.85531007
14regulation of MHC class I biosynthetic process (GO:0045343)3.76037722
15detection of light stimulus involved in visual perception (GO:0050908)3.61168256
16detection of light stimulus involved in sensory perception (GO:0050962)3.61168256
17cellular biogenic amine catabolic process (GO:0042402)3.47524196
18amine catabolic process (GO:0009310)3.47524196
19tryptophan catabolic process (GO:0006569)3.43367808
20indole-containing compound catabolic process (GO:0042436)3.43367808
21indolalkylamine catabolic process (GO:0046218)3.43367808
22negative regulation of transcription regulatory region DNA binding (GO:2000678)3.40080001
23mitochondrial respiratory chain complex I assembly (GO:0032981)3.37429555
24NADH dehydrogenase complex assembly (GO:0010257)3.37429555
25mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.37429555
26kynurenine metabolic process (GO:0070189)3.36631675
27protein complex biogenesis (GO:0070271)3.32099162
28axoneme assembly (GO:0035082)3.30388295
29motile cilium assembly (GO:0044458)3.30172543
30negative regulation of telomere maintenance (GO:0032205)3.26575204
31positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.25711518
32nonmotile primary cilium assembly (GO:0035058)3.25312753
33negative regulation of multicellular organism growth (GO:0040015)3.24584215
34detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.20215516
35peptidyl-histidine modification (GO:0018202)3.15955322
36mitochondrial respiratory chain complex assembly (GO:0033108)3.13464112
37tongue development (GO:0043586)3.08931288
38regulation of action potential (GO:0098900)3.07827917
39somite development (GO:0061053)3.06002276
40negative regulation of translation, ncRNA-mediated (GO:0040033)3.00629596
41regulation of translation, ncRNA-mediated (GO:0045974)3.00629596
42negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.00629596
43spinal cord development (GO:0021510)2.99283964
44regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.99133209
45positive regulation of defense response to virus by host (GO:0002230)2.98912259
46synaptic transmission, cholinergic (GO:0007271)2.98668450
47protein polyglutamylation (GO:0018095)2.96902691
48tryptophan metabolic process (GO:0006568)2.96204838
49RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.93349150
50tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.93349150
51opioid receptor signaling pathway (GO:0038003)2.93046520
52indole-containing compound metabolic process (GO:0042430)2.91555783
53regulation of telomere maintenance (GO:0032204)2.91177357
54platelet dense granule organization (GO:0060155)2.88565347
55water-soluble vitamin biosynthetic process (GO:0042364)2.87745845
56kidney morphogenesis (GO:0060993)2.87687265
57regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.86746059
58limb bud formation (GO:0060174)2.85419721
59cornea development in camera-type eye (GO:0061303)2.84404187
60neural tube formation (GO:0001841)2.83010475
61pyrimidine nucleobase catabolic process (GO:0006208)2.80885201
62retinal ganglion cell axon guidance (GO:0031290)2.80035394
63reciprocal DNA recombination (GO:0035825)2.77255996
64reciprocal meiotic recombination (GO:0007131)2.77255996
65cerebral cortex radially oriented cell migration (GO:0021799)2.76793086
66phasic smooth muscle contraction (GO:0014821)2.74130302
67synapsis (GO:0007129)2.69681998
68substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.68133892
69substrate-independent telencephalic tangential migration (GO:0021826)2.68133892
70preassembly of GPI anchor in ER membrane (GO:0016254)2.67862374
71postsynaptic membrane organization (GO:0001941)2.65964264
72cellular ketone body metabolic process (GO:0046950)2.65814606
73positive regulation of amino acid transport (GO:0051957)2.64171028
74regulation of non-canonical Wnt signaling pathway (GO:2000050)2.63855745
75nucleobase catabolic process (GO:0046113)2.63693325
76inner ear receptor stereocilium organization (GO:0060122)2.63240067
77ketone body metabolic process (GO:1902224)2.62910150
78intraciliary transport (GO:0042073)2.62800821
79protein localization to cilium (GO:0061512)2.62699483
80auditory receptor cell stereocilium organization (GO:0060088)2.61073652
81intracellular protein transmembrane import (GO:0044743)2.60627012
82cilium morphogenesis (GO:0060271)2.60530648
83piRNA metabolic process (GO:0034587)2.58616334
84protein import into peroxisome matrix (GO:0016558)2.54127883
85positive regulation of triglyceride biosynthetic process (GO:0010867)2.53379288
86protein-cofactor linkage (GO:0018065)2.52712036
87metallo-sulfur cluster assembly (GO:0031163)2.51503975
88iron-sulfur cluster assembly (GO:0016226)2.51503975
89protein K6-linked ubiquitination (GO:0085020)2.50263388
90positive regulation of T-helper 1 type immune response (GO:0002827)2.50248781
91cAMP catabolic process (GO:0006198)2.50160920
92smoothened signaling pathway (GO:0007224)2.50009538
93inositol phosphate catabolic process (GO:0071545)2.49634738
94cilium organization (GO:0044782)2.49171501
95cilium assembly (GO:0042384)2.48371643
96photoreceptor cell maintenance (GO:0045494)2.47867781
97mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.46927064
98positive regulation of meiosis (GO:0045836)2.46569125
99meiotic chromosome segregation (GO:0045132)2.46380633
100regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.43588978

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.44914519
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.39992443
3VDR_22108803_ChIP-Seq_LS180_Human3.33000977
4ZNF274_21170338_ChIP-Seq_K562_Hela3.01650587
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.90482412
6GBX2_23144817_ChIP-Seq_PC3_Human2.84798068
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.70912199
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.48849172
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.43634572
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.32092353
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.19664040
12IGF1R_20145208_ChIP-Seq_DFB_Human2.07544593
13RBPJ_22232070_ChIP-Seq_NCS_Mouse2.07463588
14TAF15_26573619_Chip-Seq_HEK293_Human2.04985054
15FUS_26573619_Chip-Seq_HEK293_Human2.01794714
16BCAT_22108803_ChIP-Seq_LS180_Human1.93527912
17POU3F2_20337985_ChIP-ChIP_501MEL_Human1.91296885
18EWS_26573619_Chip-Seq_HEK293_Human1.84193867
19ER_23166858_ChIP-Seq_MCF-7_Human1.80841771
20P300_19829295_ChIP-Seq_ESCs_Human1.80522907
21CTBP1_25329375_ChIP-Seq_LNCAP_Human1.80351847
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.73157870
23CBX2_27304074_Chip-Seq_ESCs_Mouse1.72799912
24PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71001764
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.67286493
26POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.66637480
27TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66637480
28CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.65857272
29REST_21632747_ChIP-Seq_MESCs_Mouse1.56042432
30UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.55446538
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54298671
32PCGF2_27294783_Chip-Seq_NPCs_Mouse1.49599333
33SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47555547
34AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47417986
35MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.46227544
36EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.45219820
37GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.41758833
38MYC_18940864_ChIP-ChIP_HL60_Human1.39511447
39TCF4_23295773_ChIP-Seq_U87_Human1.38220968
40STAT3_23295773_ChIP-Seq_U87_Human1.37917296
41SMAD4_21799915_ChIP-Seq_A2780_Human1.37368918
42ETV2_25802403_ChIP-Seq_MESCs_Mouse1.35816942
43NR3C1_21868756_ChIP-Seq_MCF10A_Human1.34964517
44TP53_22573176_ChIP-Seq_HFKS_Human1.34093462
45KLF5_20875108_ChIP-Seq_MESCs_Mouse1.32807051
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32184556
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.31529935
48HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.31458162
49TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31054229
50TCF4_22108803_ChIP-Seq_LS180_Human1.30265060
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.30140783
52BMI1_23680149_ChIP-Seq_NPCS_Mouse1.29411910
53CBP_20019798_ChIP-Seq_JUKART_Human1.29038673
54IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29038673
55IRF1_19129219_ChIP-ChIP_H3396_Human1.27957689
56RNF2_27304074_Chip-Seq_NSC_Mouse1.27836070
57SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27485136
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27411415
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27155131
60NOTCH1_21737748_ChIP-Seq_TLL_Human1.24668716
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.23064658
62AR_25329375_ChIP-Seq_VCAP_Human1.21793436
63NFE2_27457419_Chip-Seq_LIVER_Mouse1.21686149
64SMAD4_21741376_ChIP-Seq_EPCs_Human1.20269528
65TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20178827
66EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.19748435
67EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.17271669
68TAL1_26923725_Chip-Seq_HPCs_Mouse1.16719653
69NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.16598415
70CDX2_22108803_ChIP-Seq_LS180_Human1.16272241
71RUNX2_22187159_ChIP-Seq_PCA_Human1.14558155
72EST1_17652178_ChIP-ChIP_JURKAT_Human1.13271423
73MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.12801107
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12472181
75EZH2_27304074_Chip-Seq_ESCs_Mouse1.12337128
76FOXA1_27270436_Chip-Seq_PROSTATE_Human1.12242615
77FOXA1_25329375_ChIP-Seq_VCAP_Human1.12242615
78EZH2_27294783_Chip-Seq_NPCs_Mouse1.11325402
79AUTS2_25519132_ChIP-Seq_293T-REX_Human1.10552898
80NANOG_18555785_Chip-Seq_ESCs_Mouse1.10115143
81POU5F1_16153702_ChIP-ChIP_HESCs_Human1.09787572
82SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09077865
83SOX2_19829295_ChIP-Seq_ESCs_Human1.07953572
84NANOG_19829295_ChIP-Seq_ESCs_Human1.07953572
85HOXB7_26014856_ChIP-Seq_BT474_Human1.07454384
86JARID2_20064375_ChIP-Seq_MESCs_Mouse1.06770759
87P53_22387025_ChIP-Seq_ESCs_Mouse1.06171673
88RNF2_27304074_Chip-Seq_ESCs_Mouse1.04040381
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.03014244
90TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02856670
91SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.02492949
92NCOR_22424771_ChIP-Seq_293T_Human1.01861887
93OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01520706
94REST_18959480_ChIP-ChIP_MESCs_Mouse1.01352310
95GATA3_21878914_ChIP-Seq_MCF-7_Human1.01156617
96CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.00935062
97FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98794755
98KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97598238
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97309247
100LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97164073

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.85072410
2MP0000372_irregular_coat_pigmentation3.66909755
3MP0002837_dystrophic_cardiac_calcinosis3.54160349
4MP0006292_abnormal_olfactory_placode3.49956057
5MP0000569_abnormal_digit_pigmentation2.68122474
6MP0003646_muscle_fatigue2.62300181
7MP0002102_abnormal_ear_morphology2.61968391
8MP0002938_white_spotting2.35814490
9MP0005551_abnormal_eye_electrophysiolog2.34779617
10MP0003011_delayed_dark_adaptation2.20944878
11MP0004885_abnormal_endolymph2.19926468
12MP0002653_abnormal_ependyma_morphology2.18529509
13MP0002163_abnormal_gland_morphology2.12711518
14MP0005174_abnormal_tail_pigmentation2.10626631
15MP0001968_abnormal_touch/_nociception2.07279911
16MP0003880_abnormal_central_pattern2.05767375
17MP0003878_abnormal_ear_physiology1.97058033
18MP0005377_hearing/vestibular/ear_phenot1.97058033
19MP0005646_abnormal_pituitary_gland1.90039937
20MP0009745_abnormal_behavioral_response1.77342317
21MP0002736_abnormal_nociception_after1.76031729
22MP0001986_abnormal_taste_sensitivity1.72285464
23MP0000778_abnormal_nervous_system1.70822917
24MP0003195_calcinosis1.70155965
25MP0005379_endocrine/exocrine_gland_phen1.67240900
26MP0005075_abnormal_melanosome_morpholog1.62961371
27MP0004142_abnormal_muscle_tone1.61965066
28MP0005253_abnormal_eye_physiology1.61250065
29MP0006072_abnormal_retinal_apoptosis1.58788623
30MP0000015_abnormal_ear_pigmentation1.57086966
31MP0000631_abnormal_neuroendocrine_gland1.55554349
32MP0001485_abnormal_pinna_reflex1.55093911
33MP0002638_abnormal_pupillary_reflex1.48084611
34MP0008875_abnormal_xenobiotic_pharmacok1.43731092
35MP0002095_abnormal_skin_pigmentation1.42111276
36MP0002272_abnormal_nervous_system1.41722069
37MP0002234_abnormal_pharynx_morphology1.38083208
38MP0003787_abnormal_imprinting1.35676584
39MP0004742_abnormal_vestibular_system1.33415358
40MP0001486_abnormal_startle_reflex1.27965676
41MP0001984_abnormal_olfaction1.27833163
42MP0009046_muscle_twitch1.25843078
43MP0000427_abnormal_hair_cycle1.22926024
44MP0008789_abnormal_olfactory_epithelium1.21546364
45MP0008872_abnormal_physiological_respon1.20273258
46MP0001529_abnormal_vocalization1.17078476
47MP0005195_abnormal_posterior_eye1.16580038
48MP0000371_diluted_coat_color1.16384672
49MP0002751_abnormal_autonomic_nervous1.15030810
50MP0001324_abnormal_eye_pigmentation1.12940104
51MP0001293_anophthalmia1.12771137
52MP0002160_abnormal_reproductive_system1.11925974
53MP0003938_abnormal_ear_development1.10863997
54MP0002752_abnormal_somatic_nervous1.09313343
55MP0002572_abnormal_emotion/affect_behav1.08958468
56MP0004133_heterotaxia1.07863195
57MP0005499_abnormal_olfactory_system1.07628316
58MP0005394_taste/olfaction_phenotype1.07628316
59MP0008877_abnormal_DNA_methylation1.07222907
60MP0003718_maternal_effect1.07088116
61MP0000026_abnormal_inner_ear1.06889999
62MP0003119_abnormal_digestive_system1.06474258
63MP0002557_abnormal_social/conspecific_i1.06434106
64MP0005423_abnormal_somatic_nervous1.04648904
65MP0002184_abnormal_innervation1.04617009
66MP0001970_abnormal_pain_threshold1.03465489
67MP0005389_reproductive_system_phenotype1.02960162
68MP0001905_abnormal_dopamine_level1.02346423
69MP0005171_absent_coat_pigmentation1.01196700
70MP0003879_abnormal_hair_cell0.99952241
71MP0001963_abnormal_hearing_physiology0.98798791
72MP0000613_abnormal_salivary_gland0.98730978
73MP0006276_abnormal_autonomic_nervous0.98675711
74MP0002064_seizures0.98318584
75MP0002063_abnormal_learning/memory/cond0.96454943
76MP0002734_abnormal_mechanical_nocicepti0.96291011
77MP0002876_abnormal_thyroid_physiology0.94959987
78MP0000049_abnormal_middle_ear0.94015906
79MP0000955_abnormal_spinal_cord0.94009502
80MP0002067_abnormal_sensory_capabilities0.91468738
81MP0003122_maternal_imprinting0.89617553
82MP0003283_abnormal_digestive_organ0.89293057
83MP0002735_abnormal_chemical_nociception0.88662799
84MP0001286_abnormal_eye_development0.88285156
85MP0002733_abnormal_thermal_nociception0.86327643
86MP0003755_abnormal_palate_morphology0.85432679
87MP0003635_abnormal_synaptic_transmissio0.85136207
88MP0001501_abnormal_sleep_pattern0.84371059
89MP0002693_abnormal_pancreas_physiology0.83532897
90MP0002233_abnormal_nose_morphology0.82372879
91MP0005410_abnormal_fertilization0.80989470
92MP0003937_abnormal_limbs/digits/tail_de0.80018607
93MP0008775_abnormal_heart_ventricle0.79855267
94MP0005391_vision/eye_phenotype0.79726442
95MP0003186_abnormal_redox_activity0.79706036
96MP0002277_abnormal_respiratory_mucosa0.78941043
97MP0002882_abnormal_neuron_morphology0.77792349
98MP0004085_abnormal_heartbeat0.77339320
99MP0005365_abnormal_bile_salt0.76768050
100MP0004381_abnormal_hair_follicle0.76599589

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)5.12640520
2Absent/shortened dynein arms (HP:0200106)5.12640520
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.78086453
4Congenital stationary night blindness (HP:0007642)4.64481792
5Molar tooth sign on MRI (HP:0002419)4.08406342
6Abnormality of midbrain morphology (HP:0002418)4.08406342
7Pancreatic fibrosis (HP:0100732)3.98572737
8Progressive cerebellar ataxia (HP:0002073)3.92611495
9Pancreatic cysts (HP:0001737)3.91585355
10Nephronophthisis (HP:0000090)3.87975751
11Abnormal ciliary motility (HP:0012262)3.70237204
12True hermaphroditism (HP:0010459)3.69753584
13Abnormal respiratory motile cilium morphology (HP:0005938)3.46328703
14Abnormal respiratory epithelium morphology (HP:0012253)3.46328703
15Abnormal respiratory motile cilium physiology (HP:0012261)3.35586938
16Rhinitis (HP:0012384)3.34849798
17Hyperventilation (HP:0002883)3.27258171
18Abnormality of the renal medulla (HP:0100957)3.26199038
19Type II lissencephaly (HP:0007260)3.00770764
20Severe visual impairment (HP:0001141)2.91033548
21Concave nail (HP:0001598)2.84723206
22Pendular nystagmus (HP:0012043)2.83536287
23Chronic bronchitis (HP:0004469)2.81548780
24Abnormal rod and cone electroretinograms (HP:0008323)2.79754835
25Acute necrotizing encephalopathy (HP:0006965)2.73248287
26Bile duct proliferation (HP:0001408)2.64356904
27Abnormal biliary tract physiology (HP:0012439)2.64356904
28Acute encephalopathy (HP:0006846)2.63205417
29Abnormality of the renal cortex (HP:0011035)2.54182903
30Medial flaring of the eyebrow (HP:0010747)2.52492359
31Elevated erythrocyte sedimentation rate (HP:0003565)2.51058309
32Rib fusion (HP:0000902)2.49753870
33Gaze-evoked nystagmus (HP:0000640)2.49677562
34Optic disc pallor (HP:0000543)2.47683055
35Hepatocellular necrosis (HP:0001404)2.45184998
36Cystic liver disease (HP:0006706)2.43598446
37Progressive macrocephaly (HP:0004481)2.42601705
38Attenuation of retinal blood vessels (HP:0007843)2.41895353
39Mitochondrial inheritance (HP:0001427)2.41790623
40Septo-optic dysplasia (HP:0100842)2.41738447
41Tubular atrophy (HP:0000092)2.38890677
42Decreased central vision (HP:0007663)2.38184315
43Hypoplasia of the fovea (HP:0007750)2.36019640
44Aplasia/Hypoplasia of the fovea (HP:0008060)2.36019640
45Polydipsia (HP:0001959)2.33820620
46Abnormal drinking behavior (HP:0030082)2.33820620
47Hepatic necrosis (HP:0002605)2.33438709
48Abnormal mitochondria in muscle tissue (HP:0008316)2.30870341
49Optic nerve hypoplasia (HP:0000609)2.27917280
50Aplasia/Hypoplasia of the spleen (HP:0010451)2.25601447
51Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.21059649
52Sclerocornea (HP:0000647)2.20484487
53Increased CSF lactate (HP:0002490)2.13974186
54Congenital hepatic fibrosis (HP:0002612)2.13130312
55Asplenia (HP:0001746)2.10305349
56Genetic anticipation (HP:0003743)2.09183910
57Oculomotor apraxia (HP:0000657)2.07257396
58Supernumerary spleens (HP:0009799)2.02843168
59Anophthalmia (HP:0000528)2.01874853
60Abnormality of the fovea (HP:0000493)2.00559673
61Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.99632836
62Renal cortical cysts (HP:0000803)1.99193453
63Absent speech (HP:0001344)1.98863617
64Anencephaly (HP:0002323)1.96320279
65Aplasia/Hypoplasia of the macula (HP:0008059)1.93696839
66Hemiparesis (HP:0001269)1.91923063
67Cerebellar dysplasia (HP:0007033)1.90527922
683-Methylglutaconic aciduria (HP:0003535)1.89210554
69Bony spicule pigmentary retinopathy (HP:0007737)1.88749220
70Retinitis pigmentosa (HP:0000510)1.88210428
71Narrow forehead (HP:0000341)1.87100373
72Male pseudohermaphroditism (HP:0000037)1.85213066
73Decreased electroretinogram (ERG) amplitude (HP:0000654)1.85034251
74Increased corneal curvature (HP:0100692)1.83797308
75Keratoconus (HP:0000563)1.83797308
76Focal seizures (HP:0007359)1.83686829
77Pigmentary retinal degeneration (HP:0001146)1.83116847
78Aplasia/Hypoplasia affecting the retina (HP:0008061)1.82955924
79Lissencephaly (HP:0001339)1.82690377
80Action tremor (HP:0002345)1.82254922
81Pachygyria (HP:0001302)1.82221663
82Chronic hepatic failure (HP:0100626)1.80616530
83Polyuria (HP:0000103)1.80322510
84Postaxial foot polydactyly (HP:0001830)1.80293589
85Abolished electroretinogram (ERG) (HP:0000550)1.79627799
86Prostate neoplasm (HP:0100787)1.79329863
87Abnormality of macular pigmentation (HP:0008002)1.78375745
88Bilateral microphthalmos (HP:0007633)1.77966049
89Occipital encephalocele (HP:0002085)1.77898270
90Congenital sensorineural hearing impairment (HP:0008527)1.77615395
91Aplasia/Hypoplasia of the tongue (HP:0010295)1.76677719
92Reticulocytopenia (HP:0001896)1.75712400
93Hypothermia (HP:0002045)1.73571856
94Tachypnea (HP:0002789)1.69329121
95Broad-based gait (HP:0002136)1.68359833
96Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.67251462
97Abnormality of alanine metabolism (HP:0010916)1.67251462
98Hyperalaninemia (HP:0003348)1.67251462
99Retinal dysplasia (HP:0007973)1.63833821
100Absent rod-and cone-mediated responses on ERG (HP:0007688)1.63676585

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.30110522
2BMPR1B3.37235530
3PINK13.23590190
4WNK32.74971767
5NUAK12.63459461
6ZAK2.61278538
7ADRBK22.48405805
8AKT32.18489283
9TLK12.15031897
10GRK12.10750350
11MAP4K22.04945954
12MKNK22.02434257
13WNK41.86104498
14MAP3K41.78037414
15OXSR11.76961124
16MAPK131.75981624
17ACVR1B1.72868713
18CASK1.70688659
19CDK191.58550408
20MARK11.54892129
21DYRK21.54520153
22BCKDK1.45255547
23MAP2K71.35998720
24EIF2AK11.24299038
25STK391.20048568
26SGK21.18784488
27TRIM281.17798504
28TNK21.14748780
29FGFR21.10194595
30DYRK31.09553811
31PLK20.96961037
32INSRR0.96849100
33EIF2AK30.96506417
34TAF10.95612489
35EPHA40.94901870
36TGFBR10.94516530
37TAOK30.93771940
38NTRK30.92086325
39TSSK60.90967695
40MAP2K40.90102689
41DAPK20.89288753
42PRKCG0.88351952
43PRKCE0.84211297
44KIT0.83853669
45DYRK1A0.83444307
46TYK20.83089964
47NTRK20.79593382
48PAK30.78659853
49PNCK0.78460878
50HIPK20.77158807
51MKNK10.76652068
52TEC0.72189738
53PHKG20.71561730
54PHKG10.71561730
55CDC70.71359015
56SGK4940.71330004
57SGK2230.71330004
58TYRO30.70081989
59ADRBK10.68373717
60RPS6KA40.67899845
61PIK3CA0.62017335
62CAMK10.60848055
63IRAK10.59945852
64MAPK70.59933767
65PRKD30.59017886
66TNIK0.57092091
67SGK30.56645481
68VRK20.56283046
69YES10.54781743
70PRKCQ0.54774858
71PDK20.54166231
72WNK10.53536761
73PLK30.52510466
74VRK10.51406696
75BRAF0.50904744
76PRKG10.50552160
77TXK0.50421448
78PRKACA0.48475034
79PRKCH0.48422683
80PRKCZ0.47295786
81CSNK1A10.45093678
82SIK20.44978955
83RPS6KA50.43991068
84MARK30.43639983
85GRK50.43339433
86ITK0.42565059
87BCR0.42202383
88SGK10.41688254
89CAMKK20.41336356
90CSNK1G20.40771863
91CSNK1G10.40740418
92BTK0.40144600
93CDK30.38840733
94CAMK2A0.38153809
95CAMK40.37462803
96CSNK1D0.35584459
97CAMK2D0.35306823
98CSNK1G30.33904727
99IKBKE0.33823583
100CSNK1A1L0.33293338

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001902.75849771
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.57777299
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.57097952
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.47375554
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.31192586
6Parkinsons disease_Homo sapiens_hsa050122.27507978
7Linoleic acid metabolism_Homo sapiens_hsa005912.26182794
8Butanoate metabolism_Homo sapiens_hsa006502.18393850
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.13786019
10Phototransduction_Homo sapiens_hsa047442.03940058
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.01832277
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.99828434
13Propanoate metabolism_Homo sapiens_hsa006401.92434751
14Tryptophan metabolism_Homo sapiens_hsa003801.90579682
15Nitrogen metabolism_Homo sapiens_hsa009101.83391194
16Caffeine metabolism_Homo sapiens_hsa002321.83264677
17Homologous recombination_Homo sapiens_hsa034401.79245230
18Cardiac muscle contraction_Homo sapiens_hsa042601.77424445
19Basal transcription factors_Homo sapiens_hsa030221.77146834
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.75696177
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.73620077
22Protein export_Homo sapiens_hsa030601.73591358
23Retinol metabolism_Homo sapiens_hsa008301.66647384
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.66104057
25Huntingtons disease_Homo sapiens_hsa050161.62951854
26Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.61524688
27Ribosome_Homo sapiens_hsa030101.59137825
28Alzheimers disease_Homo sapiens_hsa050101.55290142
29Nicotine addiction_Homo sapiens_hsa050331.48856418
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.46441237
31Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.39195429
32Ether lipid metabolism_Homo sapiens_hsa005651.38259316
33Fanconi anemia pathway_Homo sapiens_hsa034601.38222170
34Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.38041668
35Olfactory transduction_Homo sapiens_hsa047401.36560123
36Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.35814169
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.28618581
38Basal cell carcinoma_Homo sapiens_hsa052171.22722943
39Selenocompound metabolism_Homo sapiens_hsa004501.21983774
40RNA degradation_Homo sapiens_hsa030181.21895181
41Insulin secretion_Homo sapiens_hsa049111.21560102
42Peroxisome_Homo sapiens_hsa041461.19183869
43Glutamatergic synapse_Homo sapiens_hsa047241.18897828
44Morphine addiction_Homo sapiens_hsa050321.18672461
45Hedgehog signaling pathway_Homo sapiens_hsa043401.17543219
46RNA polymerase_Homo sapiens_hsa030201.13430041
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10324133
48Taste transduction_Homo sapiens_hsa047421.02861665
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.00827116
50Chemical carcinogenesis_Homo sapiens_hsa052041.00254523
51Steroid biosynthesis_Homo sapiens_hsa001001.00000621
52Pentose and glucuronate interconversions_Homo sapiens_hsa000400.98695141
53Regulation of autophagy_Homo sapiens_hsa041400.97572020
54Circadian entrainment_Homo sapiens_hsa047130.95940446
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.94438572
56Fat digestion and absorption_Homo sapiens_hsa049750.92992086
57Glycerolipid metabolism_Homo sapiens_hsa005610.91651031
58Proteasome_Homo sapiens_hsa030500.90959893
59GABAergic synapse_Homo sapiens_hsa047270.82945080
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80064566
61Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76570121
62Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.74188290
63Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.69815395
64Drug metabolism - other enzymes_Homo sapiens_hsa009830.69129633
65Metabolic pathways_Homo sapiens_hsa011000.69064997
66ABC transporters_Homo sapiens_hsa020100.69063550
67Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.69040030
68Arachidonic acid metabolism_Homo sapiens_hsa005900.66429568
69Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.66296180
70Serotonergic synapse_Homo sapiens_hsa047260.63525074
71Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.61840004
72Sulfur metabolism_Homo sapiens_hsa009200.61489315
73Collecting duct acid secretion_Homo sapiens_hsa049660.61171539
74Starch and sucrose metabolism_Homo sapiens_hsa005000.60199192
75Primary immunodeficiency_Homo sapiens_hsa053400.58456359
76Axon guidance_Homo sapiens_hsa043600.57294574
77Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.51671097
78Mineral absorption_Homo sapiens_hsa049780.51498291
79Ovarian steroidogenesis_Homo sapiens_hsa049130.47616045
80Dopaminergic synapse_Homo sapiens_hsa047280.46957422
81Hippo signaling pathway_Homo sapiens_hsa043900.44613864
82Asthma_Homo sapiens_hsa053100.44601464
83Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41901162
84Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.40349656
85Intestinal immune network for IgA production_Homo sapiens_hsa046720.39969430
86Circadian rhythm_Homo sapiens_hsa047100.39828204
87beta-Alanine metabolism_Homo sapiens_hsa004100.38634071
88Calcium signaling pathway_Homo sapiens_hsa040200.38487182
89Salivary secretion_Homo sapiens_hsa049700.36551052
90Fatty acid degradation_Homo sapiens_hsa000710.36538438
91cAMP signaling pathway_Homo sapiens_hsa040240.35800848
92Melanogenesis_Homo sapiens_hsa049160.35483784
93One carbon pool by folate_Homo sapiens_hsa006700.33630058
94Renin secretion_Homo sapiens_hsa049240.33345235
95Cysteine and methionine metabolism_Homo sapiens_hsa002700.33314784
96Non-homologous end-joining_Homo sapiens_hsa034500.32224746
97Vitamin digestion and absorption_Homo sapiens_hsa049770.32120346
98Purine metabolism_Homo sapiens_hsa002300.28946086
99Cyanoamino acid metabolism_Homo sapiens_hsa004600.27928404
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.26303051

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