ELL2P1

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
1detection of light stimulus involved in sensory perception (GO:0050962)5.74161758
2detection of light stimulus involved in visual perception (GO:0050908)5.74161758
3regulation of protein glycosylation (GO:0060049)5.20384242
4fucose catabolic process (GO:0019317)5.16236992
5L-fucose metabolic process (GO:0042354)5.16236992
6L-fucose catabolic process (GO:0042355)5.16236992
7cyclic nucleotide catabolic process (GO:0009214)4.51653701
8cAMP catabolic process (GO:0006198)4.50400339
9negative regulation of cAMP-mediated signaling (GO:0043951)3.80599938
10cellular response to zinc ion (GO:0071294)3.76855750
11establishment of protein localization to Golgi (GO:0072600)3.76553766
12rRNA catabolic process (GO:0016075)3.72934667
13alanine transport (GO:0032328)3.67543049
14DNA deamination (GO:0045006)3.64785393
15response to gravity (GO:0009629)3.57658716
16protein targeting to Golgi (GO:0000042)3.55475674
17positive regulation of mRNA 3-end processing (GO:0031442)3.51454250
18regulation of mRNA 3-end processing (GO:0031440)3.48807448
19regulation of cAMP-mediated signaling (GO:0043949)3.47233137
20positive regulation of T cell cytokine production (GO:0002726)3.39569604
21positive regulation of prostaglandin secretion (GO:0032308)3.33820662
22mitochondrial calcium ion transport (GO:0006851)3.29270549
23protein localization to Golgi apparatus (GO:0034067)3.28607978
24xenobiotic catabolic process (GO:0042178)3.18470818
25retrograde transport, vesicle recycling within Golgi (GO:0000301)3.18274916
26sleep (GO:0030431)3.16199180
27calcium ion import (GO:0070509)3.15252101
28preassembly of GPI anchor in ER membrane (GO:0016254)3.13325630
29positive regulation of vesicle fusion (GO:0031340)3.07972265
30proline transport (GO:0015824)3.07559042
31regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.06124326
32positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.06124326
33acrosome assembly (GO:0001675)3.02701500
34protein K11-linked deubiquitination (GO:0035871)2.96129173
35negative regulation of mast cell activation (GO:0033004)2.94607166
36sulfation (GO:0051923)2.93897690
37regulation of type B pancreatic cell apoptotic process (GO:2000674)2.91986333
38multicellular organism reproduction (GO:0032504)2.90795111
39positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.89642430
40regulation of prostaglandin secretion (GO:0032306)2.86291899
41regulation of protein kinase A signaling (GO:0010738)2.84494147
42aggressive behavior (GO:0002118)2.82060357
43axoneme assembly (GO:0035082)2.81137450
44positive regulation of mRNA catabolic process (GO:0061014)2.79927363
45positive regulation of mRNA metabolic process (GO:1903313)2.79852043
46regulation of memory T cell differentiation (GO:0043380)2.70107979
47mitochondrial calcium ion homeostasis (GO:0051560)2.69551409
48regulation of female receptivity (GO:0045924)2.64181685
49B cell mediated immunity (GO:0019724)2.64135767
50negative regulation of phosphoprotein phosphatase activity (GO:0032515)2.63100022
51fucosylation (GO:0036065)2.61268533
52positive regulation of mRNA processing (GO:0050685)2.58593171
53sphingoid metabolic process (GO:0046519)2.56762494
54regulation of cilium movement (GO:0003352)2.56747030
55platelet dense granule organization (GO:0060155)2.55874712
56positive regulation of fatty acid transport (GO:2000193)2.54783729
57N-acetylneuraminate metabolic process (GO:0006054)2.51289095
58myelin assembly (GO:0032288)2.50830293
59retinal cone cell development (GO:0046549)2.48524607
60adenosine metabolic process (GO:0046085)2.48128773
61regulation of germinal center formation (GO:0002634)2.47956004
62negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.47483480
63prenylation (GO:0097354)2.46808994
64protein prenylation (GO:0018342)2.46808994
65piRNA metabolic process (GO:0034587)2.45777855
66photoreceptor cell development (GO:0042461)2.45186206
67organic cation transport (GO:0015695)2.44949309
68membrane depolarization during action potential (GO:0086010)2.43983361
69phosphatidylglycerol biosynthetic process (GO:0006655)2.40958891
70lymphocyte apoptotic process (GO:0070227)2.40916595
71cellular ketone body metabolic process (GO:0046950)2.40437257
72negative thymic T cell selection (GO:0045060)2.39531113
73negative regulation of synaptic transmission, GABAergic (GO:0032229)2.38992081
74reflex (GO:0060004)2.38977385
75oxygen transport (GO:0015671)2.38826853
76negative regulation of cytosolic calcium ion concentration (GO:0051481)2.38797386
77positive regulation of icosanoid secretion (GO:0032305)2.38501192
78positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.37437007
79regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.37437007
80regulation of hexokinase activity (GO:1903299)2.36882228
81regulation of glucokinase activity (GO:0033131)2.36882228
82auditory receptor cell stereocilium organization (GO:0060088)2.36675858
83positive regulation of gamma-delta T cell activation (GO:0046645)2.35064179
84zinc ion homeostasis (GO:0055069)2.34939581
85positive regulation of natural killer cell mediated immunity (GO:0002717)2.33741495
86positive regulation of defense response to virus by host (GO:0002230)2.33132415
87positive regulation of T-helper 1 type immune response (GO:0002827)2.32370805
88regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.29016896
89regulation of natural killer cell mediated immunity (GO:0002715)2.29016896
90positive regulation of natural killer cell differentiation (GO:0032825)2.27468486
91positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.27343447
92RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.27211291
93snRNA transcription (GO:0009301)2.26985730
94regulation of T cell cytokine production (GO:0002724)2.26812342
95photoreceptor cell maintenance (GO:0045494)2.26475685
96regulation of acrosome reaction (GO:0060046)2.24725838
97regulation of neurotransmitter uptake (GO:0051580)2.24358318
98negative regulation of membrane potential (GO:0045837)2.24106735
99eye photoreceptor cell development (GO:0042462)2.23873547
100S-adenosylmethionine metabolic process (GO:0046500)2.23004755

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.71867709
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.24727134
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.57845426
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.18117453
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.62619008
6FLI1_27457419_Chip-Seq_LIVER_Mouse2.53507511
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.41476086
8IRF1_19129219_ChIP-ChIP_H3396_Human2.25633443
9LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.17469093
10ZNF274_21170338_ChIP-Seq_K562_Hela2.16061056
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.15215672
12GBX2_23144817_ChIP-Seq_PC3_Human2.14737986
13CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.04183756
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.03435817
15PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01255499
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.91568972
17STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.91054950
18IRF8_21731497_ChIP-ChIP_J774_Mouse1.87402732
19EGR1_23403033_ChIP-Seq_LIVER_Mouse1.85914990
20IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.81821794
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.78925307
22BCAT_22108803_ChIP-Seq_LS180_Human1.69948533
23NOTCH1_21737748_ChIP-Seq_TLL_Human1.69679746
24IGF1R_20145208_ChIP-Seq_DFB_Human1.64115473
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.60576113
26P300_19829295_ChIP-Seq_ESCs_Human1.59445491
27EZH2_27294783_Chip-Seq_NPCs_Mouse1.57023176
28AR_20517297_ChIP-Seq_VCAP_Human1.56273869
29SALL1_21062744_ChIP-ChIP_HESCs_Human1.54917698
30SUZ12_27294783_Chip-Seq_NPCs_Mouse1.53725015
31PCGF2_27294783_Chip-Seq_NPCs_Mouse1.52900417
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47748807
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46544797
34NFE2_27457419_Chip-Seq_LIVER_Mouse1.44306418
35ER_23166858_ChIP-Seq_MCF-7_Human1.43248512
36FOXA1_27270436_Chip-Seq_PROSTATE_Human1.40694670
37FOXA1_25329375_ChIP-Seq_VCAP_Human1.40694670
38GATA3_21878914_ChIP-Seq_MCF-7_Human1.40658968
39FOXA1_21572438_ChIP-Seq_LNCaP_Human1.39527501
40GATA3_26560356_Chip-Seq_TH2_Human1.34216668
41TP53_22573176_ChIP-Seq_HFKS_Human1.33227323
42CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33089889
43STAT3_23295773_ChIP-Seq_U87_Human1.32680846
44TCF4_23295773_ChIP-Seq_U87_Human1.26405817
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.26189785
46CRX_20693478_ChIP-Seq_RETINA_Mouse1.23697781
47SOX2_19829295_ChIP-Seq_ESCs_Human1.22713920
48NANOG_19829295_ChIP-Seq_ESCs_Human1.22713920
49PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.22627101
50CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.20704707
51STAT3_18555785_Chip-Seq_ESCs_Mouse1.19814548
52AUTS2_25519132_ChIP-Seq_293T-REX_Human1.17400733
53GATA2_21666600_ChIP-Seq_HMVEC_Human1.16805064
54STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16705065
55HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.15972742
56PRDM14_20953172_ChIP-Seq_ESCs_Human1.15245149
57TDRD3_21172665_ChIP-Seq_MCF-7_Human1.14754051
58LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.14595894
59P53_22387025_ChIP-Seq_ESCs_Mouse1.13892936
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.13117627
61CBP_20019798_ChIP-Seq_JUKART_Human1.12954802
62IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12954802
63SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.12507306
64FUS_26573619_Chip-Seq_HEK293_Human1.12280496
65GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.12186411
66EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.11464403
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.10080100
68SMAD4_21799915_ChIP-Seq_A2780_Human1.09770418
69E2F1_18555785_Chip-Seq_ESCs_Mouse1.09387458
70OCT4_21477851_ChIP-Seq_ESCs_Mouse1.08814529
71CDX2_22108803_ChIP-Seq_LS180_Human1.07985510
72GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.07969619
73EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06564877
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06180145
75PIAS1_25552417_ChIP-Seq_VCAP_Human1.05267721
76VDR_22108803_ChIP-Seq_LS180_Human1.03596021
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.02621545
78NMYC_18555785_Chip-Seq_ESCs_Mouse1.02181782
79RUNX1_27457419_Chip-Seq_LIVER_Mouse1.00838379
80EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.00823290
81TCF4_22108803_ChIP-Seq_LS180_Human0.99612003
82CTCF_18555785_Chip-Seq_ESCs_Mouse0.99437534
83PU1_27457419_Chip-Seq_LIVER_Mouse0.99084686
84MYC_18940864_ChIP-ChIP_HL60_Human0.98498669
85OCT4_18555785_Chip-Seq_ESCs_Mouse0.98080061
86CMYC_18555785_Chip-Seq_ESCs_Mouse0.97294712
87CEBPB_22108803_ChIP-Seq_LS180_Human0.96150358
88UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95238067
89HOXB7_26014856_ChIP-Seq_BT474_Human0.95011524
90P300_18555785_Chip-Seq_ESCs_Mouse0.94888423
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93899318
92SOX2_18555785_Chip-Seq_ESCs_Mouse0.91791620
93MYC_19829295_ChIP-Seq_ESCs_Human0.91358508
94FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90774846
95EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.90111402
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.89931559
97MYB_26560356_Chip-Seq_TH2_Human0.88409183
98ZFX_18555785_Chip-Seq_ESCs_Mouse0.88147959
99CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.88094191
100FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.87172938

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003172_abnormal_lysosome_physiology3.26512297
2MP0002876_abnormal_thyroid_physiology3.10903758
3MP0009780_abnormal_chondrocyte_physiolo3.01214330
4MP0005645_abnormal_hypothalamus_physiol2.89342490
5MP0002837_dystrophic_cardiac_calcinosis2.71031252
6MP0006072_abnormal_retinal_apoptosis2.68868498
7MP0001501_abnormal_sleep_pattern2.62733026
8MP0008877_abnormal_DNA_methylation2.59572360
9MP0005379_endocrine/exocrine_gland_phen2.39561642
10MP0008875_abnormal_xenobiotic_pharmacok2.39202835
11MP0003724_increased_susceptibility_to2.35789680
12MP0000569_abnormal_digit_pigmentation2.34385949
13MP0002163_abnormal_gland_morphology2.31922783
14MP0005551_abnormal_eye_electrophysiolog2.26716790
15MP0003195_calcinosis2.17368236
16MP0002138_abnormal_hepatobiliary_system2.16003939
17MP0001835_abnormal_antigen_presentation2.15377368
18MP0005671_abnormal_response_to2.15062387
19MP0000383_abnormal_hair_follicle1.98400729
20MP0000685_abnormal_immune_system1.90700772
21MP0001790_abnormal_immune_system1.84408755
22MP0005387_immune_system_phenotype1.84408755
23MP0001986_abnormal_taste_sensitivity1.81280476
24MP0005646_abnormal_pituitary_gland1.77201248
25MP0001800_abnormal_humoral_immune1.69075384
26MP0005253_abnormal_eye_physiology1.67457493
27MP0005000_abnormal_immune_tolerance1.62497539
28MP0002909_abnormal_adrenal_gland1.62422650
29MP0002693_abnormal_pancreas_physiology1.61764054
30MP0000015_abnormal_ear_pigmentation1.58437635
31MP0002723_abnormal_immune_serum1.56972813
32MP0002148_abnormal_hypersensitivity_rea1.53705217
33MP0005365_abnormal_bile_salt1.49301084
34MP0010678_abnormal_skin_adnexa1.47395107
35MP0002452_abnormal_antigen_presenting1.41805526
36MP0005464_abnormal_platelet_physiology1.34780983
37MP0002420_abnormal_adaptive_immunity1.31995669
38MP0001819_abnormal_immune_cell1.30157877
39MP0002102_abnormal_ear_morphology1.29416891
40MP0009764_decreased_sensitivity_to1.28280369
41MP0009046_muscle_twitch1.25350004
42MP0001944_abnormal_pancreas_morphology1.22517995
43MP0005174_abnormal_tail_pigmentation1.22134369
44MP0009278_abnormal_bone_marrow1.22001681
45MP0009745_abnormal_behavioral_response1.19529234
46MP0010329_abnormal_lipoprotein_level1.19296923
47MP0000465_gastrointestinal_hemorrhage1.18710752
48MP0000427_abnormal_hair_cycle1.18448773
49MP0004019_abnormal_vitamin_homeostasis1.18382883
50MP0005410_abnormal_fertilization1.16970339
51MP0003718_maternal_effect1.16692454
52MP0005332_abnormal_amino_acid1.14665704
53MP0004484_altered_response_of1.13625990
54MP0003252_abnormal_bile_duct1.12880895
55MP0009785_altered_susceptibility_to1.10919666
56MP0001845_abnormal_inflammatory_respons1.09920163
57MP0008872_abnormal_physiological_respon1.09836555
58MP0001486_abnormal_startle_reflex1.08165522
59MP0004215_abnormal_myocardial_fiber1.06233493
60MP0006036_abnormal_mitochondrial_physio1.04608472
61MP0005389_reproductive_system_phenotype1.03885100
62MP0005636_abnormal_mineral_homeostasis1.03062158
63MP0000716_abnormal_immune_system1.00080207
64MP0001968_abnormal_touch/_nociception0.99725618
65MP0005397_hematopoietic_system_phenotyp0.99516554
66MP0001545_abnormal_hematopoietic_system0.99516554
67MP0002398_abnormal_bone_marrow0.99181595
68MP0005025_abnormal_response_to0.98734702
69MP0001765_abnormal_ion_homeostasis0.94826872
70MP0002419_abnormal_innate_immunity0.94803647
71MP0006082_CNS_inflammation0.92638689
72MP0006054_spinal_hemorrhage0.91823353
73MP0005310_abnormal_salivary_gland0.91401657
74MP0004133_heterotaxia0.90960310
75MP0002928_abnormal_bile_duct0.90583079
76MP0001764_abnormal_homeostasis0.89848675
77MP0008775_abnormal_heart_ventricle0.89835570
78MP0003186_abnormal_redox_activity0.89371404
79MP0004742_abnormal_vestibular_system0.88881834
80MP0008469_abnormal_protein_level0.88209656
81MP0005408_hypopigmentation0.86712025
82MP0003787_abnormal_imprinting0.85748913
83MP0000689_abnormal_spleen_morphology0.84640117
84MP0000230_abnormal_systemic_arterial0.81435827
85MP0004130_abnormal_muscle_cell0.81277268
86MP0003866_abnormal_defecation0.81043951
87MP0000631_abnormal_neuroendocrine_gland0.80852221
88MP0002429_abnormal_blood_cell0.80747930
89MP0002557_abnormal_social/conspecific_i0.79223516
90MP0000371_diluted_coat_color0.79088881
91MP0001756_abnormal_urination0.78776122
92MP0005075_abnormal_melanosome_morpholog0.78598278
93MP0008961_abnormal_basal_metabolism0.76631182
94MP0001485_abnormal_pinna_reflex0.73734835
95MP0001348_abnormal_lacrimal_gland0.73663222
96MP0002136_abnormal_kidney_physiology0.73345993
97MP0003943_abnormal_hepatobiliary_system0.73044584
98MP0005584_abnormal_enzyme/coenzyme_acti0.72951134
99MP0002272_abnormal_nervous_system0.72804558
100MP0002572_abnormal_emotion/affect_behav0.72431753

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)5.77382672
2Congenital stationary night blindness (HP:0007642)5.61505813
3Albinism (HP:0001022)5.44161892
4Abnormal rod and cone electroretinograms (HP:0008323)4.73361562
5Hypoplasia of the fovea (HP:0007750)4.68435499
6Aplasia/Hypoplasia of the fovea (HP:0008060)4.68435499
7Type II lissencephaly (HP:0007260)4.67637713
8Calf muscle hypertrophy (HP:0008981)4.36320892
93-Methylglutaconic aciduria (HP:0003535)4.29281784
10Central scotoma (HP:0000603)4.00263291
11Muscle hypertrophy of the lower extremities (HP:0008968)3.80648895
12Abnormality of the fovea (HP:0000493)3.70618898
13Pancreatic cysts (HP:0001737)3.44620951
14Abnormality of macular pigmentation (HP:0008002)3.34738308
15Increased IgM level (HP:0003496)3.23797070
16Abnormal delayed hypersensitivity skin test (HP:0002963)2.98604350
17Aplasia/Hypoplasia of the macula (HP:0008059)2.93064384
18Stomach cancer (HP:0012126)2.88760594
19Abnormal biliary tract physiology (HP:0012439)2.88212273
20Bile duct proliferation (HP:0001408)2.88212273
21Vasculitis (HP:0002633)2.76277851
22Abnormality of the renal cortex (HP:0011035)2.75376026
23Gastrointestinal stroma tumor (HP:0100723)2.72514310
24Attenuation of retinal blood vessels (HP:0007843)2.72357383
25Aplasia/Hypoplasia affecting the retina (HP:0008061)2.71338269
26Scotoma (HP:0000575)2.70753772
27Gaze-evoked nystagmus (HP:0000640)2.62395906
28Generalized hypopigmentation (HP:0007513)2.52822024
29Eosinophilia (HP:0001880)2.51896213
30IgG deficiency (HP:0004315)2.48295468
31Renal cortical cysts (HP:0000803)2.47130413
32Broad-based gait (HP:0002136)2.41004370
33Delayed CNS myelination (HP:0002188)2.38627643
34Tubular atrophy (HP:0000092)2.35521463
35Retinal dysplasia (HP:0007973)2.33683918
36Agitation (HP:0000713)2.33683515
37Chronic hepatic failure (HP:0100626)2.31767535
38Pancreatic fibrosis (HP:0100732)2.30488729
39Optic neuritis (HP:0100653)2.30271845
40Retrobulbar optic neuritis (HP:0100654)2.30271845
41Molar tooth sign on MRI (HP:0002419)2.27705603
42Abnormality of midbrain morphology (HP:0002418)2.27705603
43Hypochromic anemia (HP:0001931)2.24578952
44Autoimmune hemolytic anemia (HP:0001890)2.22707766
45Generalized aminoaciduria (HP:0002909)2.21267543
46Ketosis (HP:0001946)2.14793498
47Decreased central vision (HP:0007663)2.14524661
48Congenital sensorineural hearing impairment (HP:0008527)2.14354507
49Absent rod-and cone-mediated responses on ERG (HP:0007688)2.13403127
50Severe muscular hypotonia (HP:0006829)2.10305383
51Abnormality of T cell physiology (HP:0011840)2.10089412
52Abnormality of eosinophils (HP:0001879)2.09071396
53Gingival bleeding (HP:0000225)2.08190893
54Aplasia/hypoplasia of the uterus (HP:0008684)2.07773274
55True hermaphroditism (HP:0010459)2.07389711
56Proximal tubulopathy (HP:0000114)2.06038573
57Cystic liver disease (HP:0006706)2.05508058
58Absent speech (HP:0001344)2.03923535
59Nephronophthisis (HP:0000090)2.03795402
60Hyperventilation (HP:0002883)1.99950613
61Aplasia/Hypoplasia of the spleen (HP:0010451)1.98002172
62Nonprogressive disorder (HP:0003680)1.97297245
63Granulocytopenia (HP:0001913)1.96275494
64Myositis (HP:0100614)1.95411837
65Increased corneal curvature (HP:0100692)1.95340913
66Keratoconus (HP:0000563)1.95340913
67Encephalitis (HP:0002383)1.94084126
68Hemiparesis (HP:0001269)1.93404396
69Keratitis (HP:0000491)1.91120427
70Stomatitis (HP:0010280)1.86936165
71Orchitis (HP:0100796)1.86531061
72Clumsiness (HP:0002312)1.86521469
73Fair hair (HP:0002286)1.85711353
74Hemoptysis (HP:0002105)1.85353739
75Abnormality of cells of the lymphoid lineage (HP:0012140)1.84339081
76Autoimmune thrombocytopenia (HP:0001973)1.83267222
77Abolished electroretinogram (ERG) (HP:0000550)1.82319736
78Abnormality of the vitreous humor (HP:0004327)1.82266648
79Prolonged bleeding time (HP:0003010)1.81981430
80Asplenia (HP:0001746)1.80761866
81Joint swelling (HP:0001386)1.79769574
82Tongue fasciculations (HP:0001308)1.79747231
83Lymphopenia (HP:0001888)1.79607281
84Constricted visual fields (HP:0001133)1.79407555
85Abnormality of the renal medulla (HP:0100957)1.79173505
86Widely spaced teeth (HP:0000687)1.78091296
87Glycosuria (HP:0003076)1.75177864
88Abnormality of urine glucose concentration (HP:0011016)1.75177864
89Medial flaring of the eyebrow (HP:0010747)1.71898010
90Aplasia/Hypoplasia of the tibia (HP:0005772)1.71480566
91Decreased electroretinogram (ERG) amplitude (HP:0000654)1.70265442
92Pulmonary infiltrates (HP:0002113)1.69662464
93Progressive inability to walk (HP:0002505)1.69655459
94Bony spicule pigmentary retinopathy (HP:0007737)1.64043412
95Decreased circulating renin level (HP:0003351)1.61868798
96Metaphyseal dysplasia (HP:0100255)1.60101231
97Leukocytosis (HP:0001974)1.59822325
98Conical tooth (HP:0000698)1.59672970
99Intellectual disability, progressive (HP:0006887)1.57876701
100Increased CSF protein (HP:0002922)1.57821015

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.28509219
2CDK193.38997949
3BRD43.34623192
4SIK23.12546538
5ADRBK23.08758324
6MAP2K62.54069207
7TXK2.48884767
8PTK2B2.28949714
9IKBKB2.15626831
10GRK62.07198421
11TLK12.05970979
12CASK1.89826431
13PINK11.88749609
14GRK11.85233550
15EIF2AK11.75532279
16TAOK31.72508741
17DAPK21.67630893
18ACVR1B1.64583530
19MARK31.62752044
20BLK1.59835444
21TRPM71.59788650
22TRIM281.55798099
23PHKG21.52685320
24PHKG11.52685320
25MAPK111.51303061
26STK241.48709311
27JAK31.45054612
28NTRK31.44453868
29EIF2AK31.42006932
30PRKD21.40460286
31BMPR21.38155416
32MUSK1.36633607
33MAP3K141.34372344
34STK31.33831158
35PAK31.27998076
36BMX1.17487504
37TEC1.16646403
38WNK41.15272231
39CSF1R1.13097860
40CAMKK21.10152718
41MAPK71.09912229
42SIK31.09427123
43MAP3K131.07746274
44BTK1.06769610
45EPHA31.06511138
46MAP2K21.03627204
47CDK121.00940671
48TNK21.00035464
49ZAK0.97360678
50NUAK10.97270730
51TBK10.97050324
52BCR0.94580437
53SYK0.90808277
54MAPKAPK30.90592433
55INSRR0.83524070
56NEK20.82131368
57KSR10.81653708
58MST40.77036988
59EPHB10.76320963
60STK390.72628533
61PRKCE0.68684427
62CHUK0.67372637
63ITK0.65676898
64LYN0.64492570
65IKBKE0.61433549
66FGR0.60413377
67WNK30.60205304
68MAP4K10.57518590
69RPS6KB10.56911672
70PRKCQ0.52885978
71MAPK130.52682389
72CAMK2D0.49045949
73IRAK10.48125924
74PRKCZ0.47841982
75CSNK1D0.47529490
76OXSR10.47198755
77ADRBK10.45720531
78LCK0.45457357
79IRAK40.45439844
80ABL10.45362794
81STK100.43252073
82PRKACA0.40222162
83RPS6KA50.38951572
84PRKCB0.37536860
85PRKG10.37037931
86MAPK30.36863480
87ROCK10.36150544
88CDC42BPA0.35677713
89ZAP700.34873451
90EIF2AK20.34478447
91PRKCI0.34438237
92KDR0.32385301
93PDK10.32141558
94FES0.32097911
95PIK3CG0.30852739
96DAPK10.30002412
97INSR0.29398301
98MAP3K90.28426072
99PRKCA0.28254356
100BRSK20.27406059

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053323.29402540
2Type I diabetes mellitus_Homo sapiens_hsa049402.81175736
3Maturity onset diabetes of the young_Homo sapiens_hsa049502.79166031
4Intestinal immune network for IgA production_Homo sapiens_hsa046722.65283237
5Primary immunodeficiency_Homo sapiens_hsa053402.47594509
6Asthma_Homo sapiens_hsa053102.36949627
7Allograft rejection_Homo sapiens_hsa053302.31995843
8Nitrogen metabolism_Homo sapiens_hsa009102.22169945
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.17974111
10Autoimmune thyroid disease_Homo sapiens_hsa053202.16647248
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.01053401
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.87626012
13Caffeine metabolism_Homo sapiens_hsa002321.87372660
14Pentose phosphate pathway_Homo sapiens_hsa000301.82317505
15Butanoate metabolism_Homo sapiens_hsa006501.74378947
16Hematopoietic cell lineage_Homo sapiens_hsa046401.65723184
17Linoleic acid metabolism_Homo sapiens_hsa005911.61023539
18Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.59451502
19Sulfur metabolism_Homo sapiens_hsa009201.57952702
20Ether lipid metabolism_Homo sapiens_hsa005651.52346432
21Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.49765228
22Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.43098941
23Morphine addiction_Homo sapiens_hsa050321.42964876
24Primary bile acid biosynthesis_Homo sapiens_hsa001201.40065103
25Phototransduction_Homo sapiens_hsa047441.38162101
26Olfactory transduction_Homo sapiens_hsa047401.37682096
27Antigen processing and presentation_Homo sapiens_hsa046121.34586176
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.34409308
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.30994150
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.28258068
31One carbon pool by folate_Homo sapiens_hsa006701.27200640
32Mineral absorption_Homo sapiens_hsa049781.26858103
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.19764329
34alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.14990578
35Selenocompound metabolism_Homo sapiens_hsa004501.14677221
36Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.09980393
37Regulation of autophagy_Homo sapiens_hsa041401.09217370
38beta-Alanine metabolism_Homo sapiens_hsa004101.04315011
39Glycerolipid metabolism_Homo sapiens_hsa005611.03548671
40Chemical carcinogenesis_Homo sapiens_hsa052041.02188736
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.01900668
42Serotonergic synapse_Homo sapiens_hsa047261.00127368
43Taste transduction_Homo sapiens_hsa047420.99909352
44Insulin secretion_Homo sapiens_hsa049110.97127068
45Dorso-ventral axis formation_Homo sapiens_hsa043200.94455751
46Arachidonic acid metabolism_Homo sapiens_hsa005900.94437650
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93342681
48Nicotine addiction_Homo sapiens_hsa050330.92982645
49SNARE interactions in vesicular transport_Homo sapiens_hsa041300.92251319
50Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91772085
51B cell receptor signaling pathway_Homo sapiens_hsa046620.90194097
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89301127
53Leishmaniasis_Homo sapiens_hsa051400.88721159
54Homologous recombination_Homo sapiens_hsa034400.88290019
55Rheumatoid arthritis_Homo sapiens_hsa053230.87686842
56Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.87146696
57GABAergic synapse_Homo sapiens_hsa047270.86285397
58Calcium signaling pathway_Homo sapiens_hsa040200.85070432
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.84353031
60Staphylococcus aureus infection_Homo sapiens_hsa051500.84032743
61Retinol metabolism_Homo sapiens_hsa008300.80700584
62NF-kappa B signaling pathway_Homo sapiens_hsa040640.79193359
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.78276321
64Purine metabolism_Homo sapiens_hsa002300.74243344
65NOD-like receptor signaling pathway_Homo sapiens_hsa046210.73968420
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73874700
67Cyanoamino acid metabolism_Homo sapiens_hsa004600.73561817
68Herpes simplex infection_Homo sapiens_hsa051680.72405398
69Renin secretion_Homo sapiens_hsa049240.70121701
70Protein export_Homo sapiens_hsa030600.68464105
71Salivary secretion_Homo sapiens_hsa049700.67688812
72Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66510745
73RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.59785720
74Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58412891
75Tryptophan metabolism_Homo sapiens_hsa003800.57605973
76T cell receptor signaling pathway_Homo sapiens_hsa046600.57526068
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.57100360
78TNF signaling pathway_Homo sapiens_hsa046680.56742082
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.55108762
80Sphingolipid metabolism_Homo sapiens_hsa006000.54835161
81Histidine metabolism_Homo sapiens_hsa003400.52207869
82Oxytocin signaling pathway_Homo sapiens_hsa049210.51425239
83Cardiac muscle contraction_Homo sapiens_hsa042600.51354838
84Jak-STAT signaling pathway_Homo sapiens_hsa046300.51072812
85ABC transporters_Homo sapiens_hsa020100.50972904
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49760919
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.49648696
88Pentose and glucuronate interconversions_Homo sapiens_hsa000400.49305873
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49297055
90Peroxisome_Homo sapiens_hsa041460.47769951
91Ovarian steroidogenesis_Homo sapiens_hsa049130.47084940
92Lysosome_Homo sapiens_hsa041420.44027978
93Collecting duct acid secretion_Homo sapiens_hsa049660.43237209
94Systemic lupus erythematosus_Homo sapiens_hsa053220.42667581
95Circadian entrainment_Homo sapiens_hsa047130.40805040
96Basal transcription factors_Homo sapiens_hsa030220.37229692
97cAMP signaling pathway_Homo sapiens_hsa040240.36928109
98Amphetamine addiction_Homo sapiens_hsa050310.36015426
99Viral myocarditis_Homo sapiens_hsa054160.35979852
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.34452152

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