OPA3

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: The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.58886747
2lysine metabolic process (GO:0006553)5.63513483
3lysine catabolic process (GO:0006554)5.63513483
4sarcomere organization (GO:0045214)5.02265102
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.96617898
6L-phenylalanine metabolic process (GO:0006558)4.96617898
7tricarboxylic acid cycle (GO:0006099)4.87019282
82-oxoglutarate metabolic process (GO:0006103)4.85888429
9aspartate family amino acid catabolic process (GO:0009068)4.74948923
10cellular response to ATP (GO:0071318)4.67464707
11L-phenylalanine catabolic process (GO:0006559)4.67246283
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.67246283
13regulation of hippo signaling (GO:0035330)4.59347995
14fucose catabolic process (GO:0019317)4.58565010
15L-fucose metabolic process (GO:0042354)4.58565010
16L-fucose catabolic process (GO:0042355)4.58565010
17cellular ketone body metabolic process (GO:0046950)4.41074043
18glyoxylate metabolic process (GO:0046487)4.39567490
19kynurenine metabolic process (GO:0070189)4.37431006
20alpha-linolenic acid metabolic process (GO:0036109)4.17419752
21fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.07173957
22cardiac myofibril assembly (GO:0055003)4.05432330
23carnitine shuttle (GO:0006853)4.02421135
24aromatic amino acid family catabolic process (GO:0009074)4.01931309
25NADH metabolic process (GO:0006734)4.01275270
26fatty acid beta-oxidation (GO:0006635)4.00604930
27acetyl-CoA metabolic process (GO:0006084)3.99927918
28positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.98956996
29fatty acid transmembrane transport (GO:1902001)3.95660443
30indolalkylamine metabolic process (GO:0006586)3.92037805
31DNA deamination (GO:0045006)3.90984883
32actin-myosin filament sliding (GO:0033275)3.88706694
33muscle filament sliding (GO:0030049)3.88706694
34oxaloacetate metabolic process (GO:0006107)3.86980834
35sulfation (GO:0051923)3.84653370
36negative regulation of mast cell activation (GO:0033004)3.79287053
37sulfur amino acid catabolic process (GO:0000098)3.78913654
38triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.76525702
39ketone body metabolic process (GO:1902224)3.74993397
40regulation of skeletal muscle contraction (GO:0014819)3.72687159
41myofibril assembly (GO:0030239)3.72266088
42amino-acid betaine metabolic process (GO:0006577)3.71780818
43tricarboxylic acid metabolic process (GO:0072350)3.65797100
44cardiac muscle contraction (GO:0060048)3.62683334
45cysteine metabolic process (GO:0006534)3.62240587
46fatty acid oxidation (GO:0019395)3.61075291
47tryptophan catabolic process (GO:0006569)3.60704330
48indole-containing compound catabolic process (GO:0042436)3.60704330
49indolalkylamine catabolic process (GO:0046218)3.60704330
50negative regulation of telomere maintenance (GO:0032205)3.59989781
51regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.59106940
52peristalsis (GO:0030432)3.58994458
53fatty acid catabolic process (GO:0009062)3.56256540
54lipid oxidation (GO:0034440)3.53582107
55regulation of cholesterol homeostasis (GO:2000188)3.50559577
56valine metabolic process (GO:0006573)3.50236460
57short-chain fatty acid metabolic process (GO:0046459)3.49702683
58negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.48463050
59cellular response to exogenous dsRNA (GO:0071360)3.47413536
60plasma membrane repair (GO:0001778)3.46657926
61positive regulation of defense response to virus by host (GO:0002230)3.45257366
62regulation of fatty acid oxidation (GO:0046320)3.44190770
63regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.42028606
64serine family amino acid catabolic process (GO:0009071)3.40796804
65bile acid biosynthetic process (GO:0006699)3.39549727
66positive regulation of fatty acid beta-oxidation (GO:0032000)3.39402976
67response to pheromone (GO:0019236)3.39031772
68monocarboxylic acid catabolic process (GO:0072329)3.38562219
69tryptophan metabolic process (GO:0006568)3.38271310
70succinate metabolic process (GO:0006105)3.35980381
71homocysteine metabolic process (GO:0050667)3.35798314
72detection of light stimulus involved in sensory perception (GO:0050962)3.35584679
73detection of light stimulus involved in visual perception (GO:0050908)3.35584679
74negative regulation of potassium ion transmembrane transport (GO:1901380)3.34393638
75positive regulation of fatty acid oxidation (GO:0046321)3.34167692
76dicarboxylic acid biosynthetic process (GO:0043650)3.33020471
77branched-chain amino acid catabolic process (GO:0009083)3.29153688
78alpha-amino acid catabolic process (GO:1901606)3.28313875
79creatine metabolic process (GO:0006600)3.28005437
80response to mercury ion (GO:0046689)3.27929647
81regulation of triglyceride catabolic process (GO:0010896)3.27224302
82regulation of acyl-CoA biosynthetic process (GO:0050812)3.25935135
83endosome to pigment granule transport (GO:0043485)3.25497591
84endosome to melanosome transport (GO:0035646)3.25497591
85primary amino compound metabolic process (GO:1901160)3.23439572
86indole-containing compound metabolic process (GO:0042430)3.23138212
87regulation of sequestering of triglyceride (GO:0010889)3.20661593
88cellular biogenic amine catabolic process (GO:0042402)3.19161198
89amine catabolic process (GO:0009310)3.19161198
90regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.18792071
91carnitine metabolic process (GO:0009437)3.18094049
92negative regulation of reactive oxygen species metabolic process (GO:2000378)3.18088808
93carnitine transmembrane transport (GO:1902603)3.17276567
94protein carboxylation (GO:0018214)3.17060856
95peptidyl-glutamic acid carboxylation (GO:0017187)3.17060856
96branched-chain amino acid metabolic process (GO:0009081)3.16958278
97carnitine transport (GO:0015879)3.16670425
98amino-acid betaine transport (GO:0015838)3.16670425
99actomyosin structure organization (GO:0031032)3.15599029
100cellular amino acid catabolic process (GO:0009063)3.14447762
101negative regulation of fibrinolysis (GO:0051918)3.14429549
102phospholipid homeostasis (GO:0055091)3.13710956
103regulation of action potential (GO:0098900)3.12709562
104detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.12201453
105actin-mediated cell contraction (GO:0070252)3.11571801
106positive regulation of CREB transcription factor activity (GO:0032793)3.11397841
107regulation of gene silencing by RNA (GO:0060966)3.10194802
108regulation of posttranscriptional gene silencing (GO:0060147)3.10194802
109regulation of gene silencing by miRNA (GO:0060964)3.10194802
110cellular modified amino acid catabolic process (GO:0042219)3.09556328
111bile acid metabolic process (GO:0008206)3.09525066
112regulation of fatty acid beta-oxidation (GO:0031998)3.08900900
113regulation of coenzyme metabolic process (GO:0051196)3.08714936
114regulation of cofactor metabolic process (GO:0051193)3.08714936
115regulation of nuclear cell cycle DNA replication (GO:0033262)3.08685000
116cardiac muscle cell development (GO:0055013)3.07611809
117glycine metabolic process (GO:0006544)3.06624930
118organic acid catabolic process (GO:0016054)3.05155667
119carboxylic acid catabolic process (GO:0046395)3.05155667
120kidney morphogenesis (GO:0060993)3.04894698
121nephron epithelium morphogenesis (GO:0072088)3.04701962
122nephron tubule morphogenesis (GO:0072078)3.04701962
123reflex (GO:0060004)3.04606786
124glutamate metabolic process (GO:0006536)3.04372535
125basic amino acid transport (GO:0015802)3.03803578
126neuronal action potential (GO:0019228)3.03681439
127ventricular cardiac muscle cell action potential (GO:0086005)3.02918705
128aromatic amino acid family metabolic process (GO:0009072)3.02492355
129NAD biosynthetic process (GO:0009435)3.02065646
130negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.01890552
131negative regulation of translation, ncRNA-mediated (GO:0040033)3.01890552
132regulation of translation, ncRNA-mediated (GO:0045974)3.01890552
133acylglycerol homeostasis (GO:0055090)3.00972348
134triglyceride homeostasis (GO:0070328)3.00972348
135regulation of actin filament-based movement (GO:1903115)3.00732866
136phosphatidylinositol acyl-chain remodeling (GO:0036149)3.00051118
137cornea development in camera-type eye (GO:0061303)2.98414354
1383-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.98115840
139purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.98115840
140ethanol oxidation (GO:0006069)2.97377259
141gluconeogenesis (GO:0006094)2.96853422
142protein import into peroxisome matrix (GO:0016558)2.95876496
143rRNA catabolic process (GO:0016075)2.95013147
144pyrimidine nucleoside catabolic process (GO:0046135)2.92995217
145positive regulation of lipid catabolic process (GO:0050996)2.91490704
146striated muscle contraction (GO:0006941)2.91443928
147dicarboxylic acid catabolic process (GO:0043649)2.91318033
148serotonin metabolic process (GO:0042428)2.89843834
149positive regulation of fatty acid transport (GO:2000193)2.87158631
150drug catabolic process (GO:0042737)2.85724776
151water-soluble vitamin biosynthetic process (GO:0042364)2.85023471
152exogenous drug catabolic process (GO:0042738)2.84822462
153positive regulation of triglyceride biosynthetic process (GO:0010867)2.83468252
154positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.82300606
155alanine transport (GO:0032328)2.79185248
156piRNA metabolic process (GO:0034587)2.78390273
157urinary tract smooth muscle contraction (GO:0014848)2.78054196
158respiratory chain complex IV assembly (GO:0008535)2.77824179
159snRNA transcription (GO:0009301)2.76844759
160opioid receptor signaling pathway (GO:0038003)2.74721678
161fucosylation (GO:0036065)2.72181038
162phasic smooth muscle contraction (GO:0014821)2.71997954
163flavonoid metabolic process (GO:0009812)2.71363017
164meiotic chromosome segregation (GO:0045132)2.70186415
165negative regulation of sodium ion transport (GO:0010766)2.69989164
166pseudouridine synthesis (GO:0001522)2.69206639
167rhodopsin mediated signaling pathway (GO:0016056)2.67907295
168regulation of triglyceride biosynthetic process (GO:0010866)2.65751857
169protein K11-linked deubiquitination (GO:0035871)2.65163002
170auditory receptor cell stereocilium organization (GO:0060088)2.65030546
171mitotic cell cycle arrest (GO:0071850)2.62410847
172cardiovascular system development (GO:0072358)2.59650966
173purinergic nucleotide receptor signaling pathway (GO:0035590)2.59626174
174preassembly of GPI anchor in ER membrane (GO:0016254)2.59188852
175multicellular organism reproduction (GO:0032504)2.58349740
176positive regulation of sodium ion transmembrane transport (GO:1902307)2.58222678
177thyroid hormone metabolic process (GO:0042403)2.57183634
178platelet dense granule organization (GO:0060155)2.57127242
179gamma-aminobutyric acid transport (GO:0015812)2.56246198
180oxidative demethylation (GO:0070989)2.55760337
181regulation of neurotransmitter uptake (GO:0051580)2.54874480
182multicellular organismal movement (GO:0050879)2.54407193
183musculoskeletal movement (GO:0050881)2.54407193
184reciprocal meiotic recombination (GO:0007131)2.54243202
185reciprocal DNA recombination (GO:0035825)2.54243202
186synaptic transmission, cholinergic (GO:0007271)2.52389473
187regulation of establishment of cell polarity (GO:2000114)2.51422038
188cAMP catabolic process (GO:0006198)2.50816431
189regulation of rhodopsin mediated signaling pathway (GO:0022400)2.49725558
190neurotransmitter metabolic process (GO:0042133)2.48206454

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.96445494
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.23441717
3* RXR_22158963_ChIP-Seq_LIVER_Mouse5.58316830
4* PPARA_22158963_ChIP-Seq_LIVER_Mouse5.09068253
5ZNF274_21170338_ChIP-Seq_K562_Hela4.60636601
6LXR_22158963_ChIP-Seq_LIVER_Mouse4.26749081
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.78868719
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.45920779
9TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.30540463
10VDR_22108803_ChIP-Seq_LS180_Human3.26684445
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.08095687
12ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.00870714
13ZNF263_19887448_ChIP-Seq_K562_Human2.86410542
14CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.72929273
15EZH2_22144423_ChIP-Seq_EOC_Human2.66816481
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.63596681
17NOTCH1_21737748_ChIP-Seq_TLL_Human2.61892981
18EGR1_23403033_ChIP-Seq_LIVER_Mouse2.49628915
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.44662604
20GBX2_23144817_ChIP-Seq_PC3_Human2.41035359
21CLOCK_20551151_ChIP-Seq_293T_Human2.38287471
22IRF8_22096565_ChIP-ChIP_GC-B_Human2.24424859
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.21686404
24EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human2.07104955
25RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.04078826
26ZFP57_27257070_Chip-Seq_ESCs_Mouse1.87538772
27ESR1_20079471_ChIP-ChIP_T-47D_Human1.84784189
28ER_23166858_ChIP-Seq_MCF-7_Human1.82833058
29TBX20_22328084_ChIP-Seq_HEART_Mouse1.81782445
30TBX20_22080862_ChIP-Seq_HEART_Mouse1.81782445
31* ESR2_21235772_ChIP-Seq_MCF-7_Human1.78805339
32* LXR_22292898_ChIP-Seq_THP-1_Human1.74254316
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.68780826
34HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.68142258
35TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.66810905
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.66255434
37ERA_21632823_ChIP-Seq_H3396_Human1.63025766
38* GATA3_21878914_ChIP-Seq_MCF-7_Human1.62601489
39NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.62032049
40FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.59627861
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.59099187
42DROSHA_22980978_ChIP-Seq_HELA_Human1.57674947
43TP53_22573176_ChIP-Seq_HFKS_Human1.56562103
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.54840200
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.53561180
46EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.53386508
47NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49434415
48FLI1_27457419_Chip-Seq_LIVER_Mouse1.48757408
49HOXB7_26014856_ChIP-Seq_BT474_Human1.48583366
50* CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.47624071
51* STAT3_23295773_ChIP-Seq_U87_Human1.46765263
52EWS_26573619_Chip-Seq_HEK293_Human1.45076811
53RACK7_27058665_Chip-Seq_MCF-7_Human1.43221549
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.42657267
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.42657267
56EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.36694979
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34921612
58POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.34921612
59TAF2_19829295_ChIP-Seq_ESCs_Human1.34164562
60BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34128752
61AR_21572438_ChIP-Seq_LNCaP_Human1.33968847
62* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33595932
63IGF1R_20145208_ChIP-Seq_DFB_Human1.32509451
64MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.31982796
65TCF4_23295773_ChIP-Seq_U87_Human1.31850333
66* REST_21632747_ChIP-Seq_MESCs_Mouse1.31447732
67OCT4_20526341_ChIP-Seq_ESCs_Human1.30358460
68PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.30203920
69SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.29186320
70MYC_19829295_ChIP-Seq_ESCs_Human1.28912420
71TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27365792
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.27209230
73SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27001500
74FOXA2_19822575_ChIP-Seq_HepG2_Human1.26918343
75LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.26655162
76P53_21459846_ChIP-Seq_SAOS-2_Human1.25345511
77TDRD3_21172665_ChIP-Seq_MCF-7_Human1.25039336
78ELK3_25401928_ChIP-Seq_HUVEC_Human1.23413262
79STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.22864328
80CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.22630248
81RAC3_21632823_ChIP-Seq_H3396_Human1.22396281
82NANOG_20526341_ChIP-Seq_ESCs_Human1.22066278
83P68_20966046_ChIP-Seq_HELA_Human1.21957629
84AR_20517297_ChIP-Seq_VCAP_Human1.20611563
85IRF1_19129219_ChIP-ChIP_H3396_Human1.20149049
86ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.20070687
87TP53_16413492_ChIP-PET_HCT116_Human1.19750741
88* BCAT_22108803_ChIP-Seq_LS180_Human1.19515733
89GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.19143704
90NCOR_22424771_ChIP-Seq_293T_Human1.19126919
91AR_25329375_ChIP-Seq_VCAP_Human1.18951116
92KDM2B_26808549_Chip-Seq_SUP-B15_Human1.18278191
93PCGF2_27294783_Chip-Seq_ESCs_Mouse1.18192163
94MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17098821
95ESR1_21235772_ChIP-Seq_MCF-7_Human1.16944845
96EP300_21415370_ChIP-Seq_HL-1_Mouse1.15753342
97ATF3_27146783_Chip-Seq_COLON_Human1.15131428
98EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.14594109
99MYC_18940864_ChIP-ChIP_HL60_Human1.14495111
100STAT3_1855785_ChIP-Seq_MESCs_Mouse1.14486954
101NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.14376380
102SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14093259
103* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.13374398
104CBX2_27304074_Chip-Seq_ESCs_Mouse1.13233486
105SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.12937985
106MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.12128396
107RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.11986730
108DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11973135
109* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.11668631
110* SMAD4_21741376_ChIP-Seq_EPCs_Human1.11036847
111STAT6_21828071_ChIP-Seq_BEAS2B_Human1.10441746
112BMI1_23680149_ChIP-Seq_NPCS_Mouse1.10281016
113GATA1_19941826_ChIP-Seq_K562_Human1.10142823
114PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10065782
115CREB1_26743006_Chip-Seq_LNCaP_Human1.08970273
116PRDM14_20953172_ChIP-Seq_ESCs_Human1.08694182
117P300_19829295_ChIP-Seq_ESCs_Human1.08430270
118BCOR_27268052_Chip-Seq_Bcells_Human1.08084246
119SOX2_19829295_ChIP-Seq_ESCs_Human1.07877645
120NANOG_19829295_ChIP-Seq_ESCs_Human1.07877645
121KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.07248117
122EZH2_27294783_Chip-Seq_ESCs_Mouse1.07048387
123AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06106213
124* ETV2_25802403_ChIP-Seq_MESCs_Mouse1.05601503
125CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.04615092
126FOXA1_21572438_ChIP-Seq_LNCaP_Human1.03909077
127GATA3_26560356_Chip-Seq_TH2_Human1.03584577
128EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.03047438
129OCT1_27270436_Chip-Seq_PROSTATE_Human1.02912583
130GATA4_21415370_ChIP-Seq_HL-1_Mouse1.01580119
131* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00853077
132TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.00841396
133EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.99926504
134TAF15_26573619_Chip-Seq_HEK293_Human0.99742248
135GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.99678243
136CTCF_27219007_Chip-Seq_Bcells_Human0.99459301
137PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.98999951
138* HNF4A_19822575_ChIP-Seq_HepG2_Human0.98684681
139* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97657594
140AHR_22903824_ChIP-Seq_MCF-7_Human0.97449581
141POU3F2_20337985_ChIP-ChIP_501MEL_Human0.96939412
142RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96885427
143KDM2B_26808549_Chip-Seq_DND41_Human0.96216657
144FLI1_21867929_ChIP-Seq_TH2_Mouse0.95949444
145* GATA1_19941827_ChIP-Seq_MEL_Mouse0.95258086
146FOXH1_21741376_ChIP-Seq_EPCs_Human0.95087365
147IKZF1_21737484_ChIP-ChIP_HCT116_Human0.95051781
148VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.94901483
149JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94216784
150ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94209483
151BCL6_27268052_Chip-Seq_Bcells_Human0.93959243
152RXR_22108803_ChIP-Seq_LS180_Human0.93339647
153TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93011612
154* TCF4_22108803_ChIP-Seq_LS180_Human0.92554632
155TP63_22573176_ChIP-Seq_HFKS_Human0.91810869
156SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.91248188
157GATA1_22025678_ChIP-Seq_K562_Human0.91213632
158UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90939714
159ARNT_22903824_ChIP-Seq_MCF-7_Human0.90766916
160TET1_21451524_ChIP-Seq_MESCs_Mouse0.89295733
161P300_27058665_Chip-Seq_ZR-75-30cells_Human0.88779982
162SMC4_20622854_ChIP-Seq_HELA_Human0.88637487
163CTCF_21964334_Chip-Seq_Bcells_Human0.88319948
164SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.87044196
165ELF1_20517297_ChIP-Seq_JURKAT_Human0.86942270
166PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86751936
167ERG_21242973_ChIP-ChIP_JURKAT_Human0.84876312
168BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.84002570
169RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.83128116
170ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.83021313
171TRIM28_21343339_ChIP-Seq_HEK293_Human0.82519886
172STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.82140645
173ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.82065286
174E2F1_20622854_ChIP-Seq_HELA_Human0.80557065
175KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.77837491
176SA1_27219007_Chip-Seq_ERYTHROID_Human0.77785572
177KDM2B_26808549_Chip-Seq_K562_Human0.77704262
178CTCF_21964334_ChIP-Seq_BJAB-B_Human0.77664182
179FOXH1_21741376_ChIP-Seq_ESCs_Human0.77372482
180SRY_22984422_ChIP-ChIP_TESTIS_Rat0.77310765
181MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77107901
182VDR_21846776_ChIP-Seq_THP-1_Human0.76863462
183* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.75796703
184PHF8_20622854_ChIP-Seq_HELA_Human0.75787675
185GATA2_19941826_ChIP-Seq_K562_Human0.75715027
186PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.74615899
187P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.74300778
188SPI1_20517297_ChIP-Seq_HL60_Human0.74277185
189TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.73846331
190TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.73708933
191TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.73201941
192STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.72610416
193MYC_22102868_ChIP-Seq_BL_Human0.72469252
194GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72274239

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.74856438
2MP0002837_dystrophic_cardiac_calcinosis4.74461791
3MP0005360_urolithiasis4.23014093
4MP0003646_muscle_fatigue3.93691947
5MP0000569_abnormal_digit_pigmentation3.78697926
6MP0004084_abnormal_cardiac_muscle3.52310687
7MP0005085_abnormal_gallbladder_physiolo3.43639195
8MP0005365_abnormal_bile_salt3.22684997
9MP0000751_myopathy3.12637688
10MP0003806_abnormal_nucleotide_metabolis3.04953825
11MP0000749_muscle_degeneration2.91321267
12MP0008875_abnormal_xenobiotic_pharmacok2.83386831
13MP0009840_abnormal_foam_cell2.81886668
14MP0004036_abnormal_muscle_relaxation2.81438858
15MP0004215_abnormal_myocardial_fiber2.68821829
16MP0005174_abnormal_tail_pigmentation2.62839829
17MP0001986_abnormal_taste_sensitivity2.53086140
18MP0005330_cardiomyopathy2.52413853
19MP0008872_abnormal_physiological_respon2.42363148
20MP0001968_abnormal_touch/_nociception2.37427137
21MP0005551_abnormal_eye_electrophysiolog2.32267042
22MP0009046_muscle_twitch2.21535595
23MP0000427_abnormal_hair_cycle2.18758695
24MP0003195_calcinosis2.18226926
25MP0004087_abnormal_muscle_fiber2.16464922
26MP0002269_muscular_atrophy2.12734177
27MP0002876_abnormal_thyroid_physiology2.11154157
28MP0004130_abnormal_muscle_cell2.06619351
29MP0005332_abnormal_amino_acid2.05893411
30MP0002972_abnormal_cardiac_muscle2.05228320
31MP0005083_abnormal_biliary_tract2.03925156
32MP0010329_abnormal_lipoprotein_level2.02925758
33MP0002102_abnormal_ear_morphology1.99374044
34MP0006036_abnormal_mitochondrial_physio1.93895512
35MP0005620_abnormal_muscle_contractility1.91296385
36MP0000750_abnormal_muscle_regeneration1.89614278
37MP0003252_abnormal_bile_duct1.88787240
38MP0005670_abnormal_white_adipose1.83577894
39MP0000747_muscle_weakness1.76937740
40MP0008775_abnormal_heart_ventricle1.76135515
41MP0004142_abnormal_muscle_tone1.74359649
42MP0003136_yellow_coat_color1.73939444
43MP0005385_cardiovascular_system_phenoty1.73844679
44MP0001544_abnormal_cardiovascular_syste1.73844679
45MP0005167_abnormal_blood-brain_barrier1.72547737
46MP0002638_abnormal_pupillary_reflex1.72101603
47MP0001873_stomach_inflammation1.67540603
48MP0002106_abnormal_muscle_physiology1.65014212
49MP0003137_abnormal_impulse_conducting1.62652265
50MP0004510_myositis1.62148396
51MP0008877_abnormal_DNA_methylation1.62125399
52MP0010630_abnormal_cardiac_muscle1.61159377
53MP0009745_abnormal_behavioral_response1.59208691
54MP0005646_abnormal_pituitary_gland1.59078210
55MP0001501_abnormal_sleep_pattern1.58570354
56MP0005666_abnormal_adipose_tissue1.58022387
57MP0004484_altered_response_of1.57218058
58MP0001666_abnormal_nutrient_absorption1.55199450
59MP0003191_abnormal_cellular_cholesterol1.54235371
60MP0002118_abnormal_lipid_homeostasis1.54223358
61MP0005319_abnormal_enzyme/_coenzyme1.52229043
62MP0004145_abnormal_muscle_electrophysio1.47812539
63MP0004233_abnormal_muscle_weight1.47568003
64MP0003221_abnormal_cardiomyocyte_apopto1.47160585
65MP0002735_abnormal_chemical_nociception1.46260263
66MP0004043_abnormal_pH_regulation1.43555333
67MP0003705_abnormal_hypodermis_morpholog1.43517342
68MP0000383_abnormal_hair_follicle1.41613626
69MP0000759_abnormal_skeletal_muscle1.38286443
70MP0004742_abnormal_vestibular_system1.37161339
71MP0000609_abnormal_liver_physiology1.35352509
72MP0004133_heterotaxia1.35351133
73MP0006138_congestive_heart_failure1.34401545
74MP0000015_abnormal_ear_pigmentation1.29704228
75MP0005369_muscle_phenotype1.29549696
76MP0000685_abnormal_immune_system1.27368772
77MP0005645_abnormal_hypothalamus_physiol1.25920657
78MP0002736_abnormal_nociception_after1.25096749
79MP0002938_white_spotting1.24337590
80MP0004085_abnormal_heartbeat1.24256519
81MP0004885_abnormal_endolymph1.22249312
82MP0005584_abnormal_enzyme/coenzyme_acti1.21795636
83MP0009643_abnormal_urine_homeostasis1.21607529
84MP0003828_pulmonary_edema1.18308422
85MP0005253_abnormal_eye_physiology1.15585304
86MP0008961_abnormal_basal_metabolism1.15536875
87MP0001485_abnormal_pinna_reflex1.15440160
88MP0003656_abnormal_erythrocyte_physiolo1.15399438
89MP0002693_abnormal_pancreas_physiology1.14570233
90MP0002332_abnormal_exercise_endurance1.13707672
91MP0002928_abnormal_bile_duct1.13297633
92MP0009764_decreased_sensitivity_to1.12144517
93MP0000371_diluted_coat_color1.11853206
94MP0003283_abnormal_digestive_organ1.10453585
95MP0005171_absent_coat_pigmentation1.09467428
96MP0003329_amyloid_beta_deposits1.08135506
97MP0003011_delayed_dark_adaptation1.08021539
98MP0001970_abnormal_pain_threshold1.07987278
99MP0003045_fibrosis1.07870860
100MP0004019_abnormal_vitamin_homeostasis1.07293921
101MP0002733_abnormal_thermal_nociception1.07207752
102MP0006035_abnormal_mitochondrial_morpho1.06073230
103MP0004147_increased_porphyrin_level1.05238497
104MP0000538_abnormal_urinary_bladder1.04747374
105MP0005375_adipose_tissue_phenotype1.04674436
106MP0002254_reproductive_system_inflammat1.04446995
107MP0005386_behavior/neurological_phenoty1.04197694
108MP0004924_abnormal_behavior1.04197694
109MP0005389_reproductive_system_phenotype1.03765661
110MP0002078_abnormal_glucose_homeostasis1.03371351
111MP0002272_abnormal_nervous_system1.03103639
112MP0002064_seizures1.01795163
113MP0000470_abnormal_stomach_morphology1.00896434
114MP0005266_abnormal_metabolism1.00766928
115MP0005451_abnormal_body_composition0.97571260
116MP0002572_abnormal_emotion/affect_behav0.97374223
117MP0002653_abnormal_ependyma_morphology0.97193333
118MP0002138_abnormal_hepatobiliary_system0.96467644
119MP0005535_abnormal_body_temperature0.96106271
120MP0002160_abnormal_reproductive_system0.94739706
121MP0002067_abnormal_sensory_capabilities0.94070755
122MP0010368_abnormal_lymphatic_system0.93047631
123MP0003950_abnormal_plasma_membrane0.92647544
124MP0001919_abnormal_reproductive_system0.92597244
125MP0001790_abnormal_immune_system0.92063410
126MP0005387_immune_system_phenotype0.92063410
127MP0001764_abnormal_homeostasis0.92009180
128MP0005165_increased_susceptibility_to0.91567399
129MP0000604_amyloidosis0.91386891
130MP0002909_abnormal_adrenal_gland0.91114966
131MP0004381_abnormal_hair_follicle0.90921285
132MP0005671_abnormal_response_to0.90501673
133MP0006072_abnormal_retinal_apoptosis0.89237769
134MP0003186_abnormal_redox_activity0.87561008
135MP0000230_abnormal_systemic_arterial0.86069142
136MP0004185_abnormal_adipocyte_glucose0.85688520
137MP0003878_abnormal_ear_physiology0.84668085
138MP0005377_hearing/vestibular/ear_phenot0.84668085
139MP0010386_abnormal_urinary_bladder0.84483255
140MP0000631_abnormal_neuroendocrine_gland0.84024960
141MP0001324_abnormal_eye_pigmentation0.82411737
142MP0005410_abnormal_fertilization0.81430777
143MP0001765_abnormal_ion_homeostasis0.80425286
144MP0003718_maternal_effect0.79857761
145MP0002095_abnormal_skin_pigmentation0.79835668
146MP0003300_gastrointestinal_ulcer0.79630727
147MP0001905_abnormal_dopamine_level0.79620026
148MP0005058_abnormal_lysosome_morphology0.79482044
149MP0001800_abnormal_humoral_immune0.79422673
150MP0002557_abnormal_social/conspecific_i0.78655304
151MP0005195_abnormal_posterior_eye0.78576001
152MP0002148_abnormal_hypersensitivity_rea0.77923282
153MP0005075_abnormal_melanosome_morpholog0.77592234
154MP0005310_abnormal_salivary_gland0.77508277
155MP0000598_abnormal_liver_morphology0.76411082
156MP0001756_abnormal_urination0.76013199
157MP0003868_abnormal_feces_composition0.75809322
158MP0002971_abnormal_brown_adipose0.74962359
159MP0002234_abnormal_pharynx_morphology0.74719608
160MP0005334_abnormal_fat_pad0.72512178
161MP0000266_abnormal_heart_morphology0.68661950
162MP0002127_abnormal_cardiovascular_syste0.67779045
163MP0000343_altered_response_to0.67236448
164MP0002822_catalepsy0.66096327
165MP0009642_abnormal_blood_homeostasis0.64899489
166MP0005636_abnormal_mineral_homeostasis0.64858396
167MP0004858_abnormal_nervous_system0.64396475
168MP0003566_abnormal_cell_adhesion0.60442572
169MP0002090_abnormal_vision0.60303417
170MP0005376_homeostasis/metabolism_phenot0.59610568
171MP0000013_abnormal_adipose_tissue0.59468392
172MP0005187_abnormal_penis_morphology0.56424327
173MP0005448_abnormal_energy_balance0.55666859
174MP0009672_abnormal_birth_weight0.54969730
175MP0003279_aneurysm0.54310607
176MP0002128_abnormal_blood_circulation0.52463988

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)5.18407065
2Sudden death (HP:0001699)4.71774196
3Pancreatic cysts (HP:0001737)4.67731535
4Exercise-induced myalgia (HP:0003738)4.67644909
5Exercise-induced muscle cramps (HP:0003710)4.44499161
6Abnormality of midbrain morphology (HP:0002418)4.34780325
7Molar tooth sign on MRI (HP:0002419)4.34780325
8Myoglobinuria (HP:0002913)4.28149239
9Hyperventilation (HP:0002883)3.97783678
10Hypoglycemic coma (HP:0001325)3.91917714
11Pancreatic fibrosis (HP:0100732)3.91671517
12Ketoacidosis (HP:0001993)3.84602047
13Abnormality of aromatic amino acid family metabolism (HP:0004338)3.81339497
14Ventricular tachycardia (HP:0004756)3.76077346
15Attenuation of retinal blood vessels (HP:0007843)3.74285813
16Calf muscle hypertrophy (HP:0008981)3.74015307
17Genetic anticipation (HP:0003743)3.72162802
18Ketosis (HP:0001946)3.70921744
19Clumsiness (HP:0002312)3.64350882
20True hermaphroditism (HP:0010459)3.61286036
21Xanthomatosis (HP:0000991)3.58765591
22Tubular atrophy (HP:0000092)3.58067208
23Abnormality of alanine metabolism (HP:0010916)3.57265123
24Hyperalaninemia (HP:0003348)3.57265123
25Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.57265123
26Muscle fiber splitting (HP:0003555)3.53316903
27Nephronophthisis (HP:0000090)3.51660606
28Abnormality of fatty-acid metabolism (HP:0004359)3.50876627
29Muscle hypertrophy of the lower extremities (HP:0008968)3.45819784
30Deep venous thrombosis (HP:0002625)3.44296617
31Hyperammonemia (HP:0001987)3.42930886
32Protruding tongue (HP:0010808)3.42597968
33Large for gestational age (HP:0001520)3.40757680
34Type II lissencephaly (HP:0007260)3.34616865
35Rhabdomyolysis (HP:0003201)3.34559197
36Inability to walk (HP:0002540)3.29519596
37Gout (HP:0001997)3.24582049
38Abnormality of the renal cortex (HP:0011035)3.21935548
39Birth length less than 3rd percentile (HP:0003561)3.21650659
40Abnormal drinking behavior (HP:0030082)3.21266542
41Polydipsia (HP:0001959)3.21266542
42Hyporeflexia of lower limbs (HP:0002600)3.20330184
43EMG: myopathic abnormalities (HP:0003458)3.17488778
44Patellar aplasia (HP:0006443)3.16919209
45Palpitations (HP:0001962)3.16641948
46Asymmetric septal hypertrophy (HP:0001670)3.15860629
47Abnormality of the calf musculature (HP:0001430)3.15738843
48Intrahepatic cholestasis (HP:0001406)3.14619226
49Lipoatrophy (HP:0100578)3.12572332
50Hyperglycinuria (HP:0003108)3.10363209
51Bundle branch block (HP:0011710)3.07680056
52Abnormality of the renal medulla (HP:0100957)3.04684139
53Right ventricular cardiomyopathy (HP:0011663)3.02665524
54Atrial fibrillation (HP:0005110)3.01073623
55Aplasia/Hypoplasia of the patella (HP:0006498)3.00734705
56Abnormality of monocarboxylic acid metabolism (HP:0010996)3.00058104
57Cystic liver disease (HP:0006706)2.99820556
58Pendular nystagmus (HP:0012043)2.93899509
59Hyperlipoproteinemia (HP:0010980)2.89844294
60Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.85933838
61Decreased circulating renin level (HP:0003351)2.85692929
62Furrowed tongue (HP:0000221)2.85397133
63Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.85092575
64Primary atrial arrhythmia (HP:0001692)2.83929349
65Abnormality of serine family amino acid metabolism (HP:0010894)2.83120421
66Abnormality of glycine metabolism (HP:0010895)2.83120421
67Progressive inability to walk (HP:0002505)2.82587104
68Abnormality of the left ventricular outflow tract (HP:0011103)2.81726293
69Subaortic stenosis (HP:0001682)2.81726293
70Abnormality of dicarboxylic acid metabolism (HP:0010995)2.81360932
71Dicarboxylic aciduria (HP:0003215)2.81360932
72Abolished electroretinogram (ERG) (HP:0000550)2.81318863
73Increased connective tissue (HP:0009025)2.80802160
74Late onset (HP:0003584)2.78666495
75Syncope (HP:0001279)2.78065136
76Congenital, generalized hypertrichosis (HP:0004540)2.77600514
77Dilated cardiomyopathy (HP:0001644)2.77471261
78Decreased electroretinogram (ERG) amplitude (HP:0000654)2.74699326
79Supraventricular tachycardia (HP:0004755)2.74670649
80Fair hair (HP:0002286)2.74508857
81Chorioretinal atrophy (HP:0000533)2.74506018
82Progressive cerebellar ataxia (HP:0002073)2.72726799
83Increased neuronal autofluorescent lipopigment (HP:0002074)2.70291431
84Supraventricular arrhythmia (HP:0005115)2.68311957
85Cerebral edema (HP:0002181)2.67253285
86Hepatic necrosis (HP:0002605)2.66887041
87Gaze-evoked nystagmus (HP:0000640)2.66648211
88Hypoplasia of the pons (HP:0012110)2.66224160
89Muscle stiffness (HP:0003552)2.65558740
90Chronic hepatic failure (HP:0100626)2.64219018
91Abnormality of the pons (HP:0007361)2.64147089
92Hypoalphalipoproteinemia (HP:0003233)2.63976756
93Concave nail (HP:0001598)2.60987774
94Cerebellar dysplasia (HP:0007033)2.56212973
95Hyperglycinemia (HP:0002154)2.55736248
96Heart block (HP:0012722)2.54640977
97Cholelithiasis (HP:0001081)2.52625923
98Severe muscular hypotonia (HP:0006829)2.52341330
99Generalized aminoaciduria (HP:0002909)2.50425043
100Increased muscle lipid content (HP:0009058)2.50145246
101Mesangial abnormality (HP:0001966)2.49929595
102Abnormal atrioventricular conduction (HP:0005150)2.46518709
103Abnormal rod and cone electroretinograms (HP:0008323)2.45782000
104Pheochromocytoma (HP:0002666)2.43848172
105Conjunctival hamartoma (HP:0100780)2.43023417
106Hypobetalipoproteinemia (HP:0003563)2.42460571
107Acute encephalopathy (HP:0006846)2.41554549
108Polyuria (HP:0000103)2.40723916
109Difficulty running (HP:0009046)2.40373981
110Metabolic acidosis (HP:0001942)2.40226773
111Hypolipoproteinemia (HP:0010981)2.40224427
112Atrioventricular block (HP:0001678)2.38712748
113Ventricular arrhythmia (HP:0004308)2.37066386
114Bony spicule pigmentary retinopathy (HP:0007737)2.36657392
115Broad-based gait (HP:0002136)2.35573320
116Lethargy (HP:0001254)2.35516938
117Abnormal gallbladder morphology (HP:0012437)2.32999172
118Abnormality of glycolysis (HP:0004366)2.31730229
119Increased serum pyruvate (HP:0003542)2.31730229
120Prolonged QT interval (HP:0001657)2.30182970
121Hyperinsulinemic hypoglycemia (HP:0000825)2.29251686
122Proximal tubulopathy (HP:0000114)2.28563593
123Lissencephaly (HP:0001339)2.28240486
124Ragged-red muscle fibers (HP:0003200)2.27662300
125Myotonia (HP:0002486)2.26772589
126Abnormal mitochondria in muscle tissue (HP:0008316)2.26704906
127Keratoconus (HP:0000563)2.26413564
128Increased corneal curvature (HP:0100692)2.26413564
129Bile duct proliferation (HP:0001408)2.22727585
130Abnormal biliary tract physiology (HP:0012439)2.22727585
131Generalized hypopigmentation of hair (HP:0011358)2.22133987
132Abnormality of purine metabolism (HP:0004352)2.21309338
133Absent speech (HP:0001344)2.20148698
134Decreased central vision (HP:0007663)2.19348283
135Sclerocornea (HP:0000647)2.19263345
136Medial flaring of the eyebrow (HP:0010747)2.18885064
137Nausea (HP:0002018)2.18375821
138Ventricular fibrillation (HP:0001663)2.17181238
139Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.17045462
140Breast hypoplasia (HP:0003187)2.16796722
141Increased intramyocellular lipid droplets (HP:0012240)2.16649982
142Difficulty climbing stairs (HP:0003551)2.15171761
143Partial agenesis of the corpus callosum (HP:0001338)2.14604398
144Abnormality of glutamine family amino acid metabolism (HP:0010902)2.14407377
145Neuroendocrine neoplasm (HP:0100634)2.12181316
146Hyperuricemia (HP:0002149)2.11251674
147Increased purine levels (HP:0004368)2.11251674
148Skin nodule (HP:0200036)2.10183603
149Congenital hepatic fibrosis (HP:0002612)2.09826325
150Muscle fiber inclusion bodies (HP:0100299)2.09436121
151Cholecystitis (HP:0001082)2.07481189
152Abnormal gallbladder physiology (HP:0012438)2.07481189
153Delayed CNS myelination (HP:0002188)2.07423810
154Neoplasm of the adrenal gland (HP:0100631)2.07102953
155Prolonged partial thromboplastin time (HP:0003645)2.05983886
156Glycosuria (HP:0003076)2.05787317
157Abnormality of urine glucose concentration (HP:0011016)2.05787317
158Acute necrotizing encephalopathy (HP:0006965)2.05572118
159Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.05271830
160Anencephaly (HP:0002323)2.04794440
161Abnormality of sulfur amino acid metabolism (HP:0004339)2.02839723
162Vomiting (HP:0002013)2.02460849
163Limb-girdle muscle atrophy (HP:0003797)2.02324670
164Lactic acidosis (HP:0003128)2.01204619
165Widely spaced teeth (HP:0000687)1.98167141
166Conical tooth (HP:0000698)1.97768292
167Hepatocellular necrosis (HP:0001404)1.96914351
168Increased cerebral lipofuscin (HP:0011813)1.95372183
169Bilateral microphthalmos (HP:0007633)1.94131652
170Absent rod-and cone-mediated responses on ERG (HP:0007688)1.94026810
171Stomach cancer (HP:0012126)1.93146461
172Aplasia/Hypoplasia of the tibia (HP:0005772)1.92906884
173Bulbous nose (HP:0000414)1.91310046
174Congenital sensorineural hearing impairment (HP:0008527)1.90553799
175Abnormal urine output (HP:0012590)1.89714675
176Tachypnea (HP:0002789)1.87660915
177Abnormal albumin level (HP:0012116)1.85945928
178Hypoalbuminemia (HP:0003073)1.85945928
179Small hand (HP:0200055)1.81537222
180Amelogenesis imperfecta (HP:0000705)1.80500652
181Stomatitis (HP:0010280)1.77870638
182Duplicated collecting system (HP:0000081)1.77235392
183Aplasia/Hypoplasia of the tongue (HP:0010295)1.76007807
184Male pseudohermaphroditism (HP:0000037)1.75667539
185Progressive microcephaly (HP:0000253)1.74194730
186Microretrognathia (HP:0000308)1.73597777
187Macroglossia (HP:0000158)1.72122346
188Abnormality of the renal collecting system (HP:0004742)1.71941263
189Renal cortical cysts (HP:0000803)1.71273662
190Hemiparesis (HP:0001269)1.67591463
191Tinnitus (HP:0000360)1.65491156
192Pachygyria (HP:0001302)1.63790144
193Abnormality of the vertebral endplates (HP:0005106)1.62631869
194Irregular vertebral endplates (HP:0003301)1.62044491
195Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.61182759
196Hypoplastic ischia (HP:0003175)1.60676831
197Abnormality of renal excretion (HP:0011036)1.60143707
198Rib fusion (HP:0000902)1.59703195

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.11447105
2LMTK24.79906065
3ADRBK24.62608724
4ACVR1B4.45182521
5BCKDK4.38049898
6TRIB34.35831910
7TTN3.92101674
8BMPR1B3.87628812
9PKN23.71559724
10TLK13.59447119
11PHKG23.31245739
12PHKG13.31245739
13NEK12.86365494
14OBSCN2.84290542
15GRK12.74634215
16ZAK2.61014163
17ERN12.43870118
18DAPK22.14870081
19TAOK32.13709907
20PDK42.02271249
21PDK32.02271249
22MYLK1.95493503
23WNK31.80822725
24MAPKAPK31.79934309
25TGFBR11.79066248
26SIK11.77924265
27PINK11.72568780
28ADRBK11.70216507
29NME11.63284173
30DMPK1.59909089
31SIK21.56954373
32NUAK11.48571446
33TXK1.46668481
34TAOK11.46608417
35MAP3K111.44339270
36RIPK11.41721942
37MAP2K31.38391643
38STK38L1.31380139
39PIK3CA1.29946509
40EPHB11.27993888
41MAP3K51.25033278
42FGFR41.23783144
43OXSR11.22838119
44IRAK11.21811353
45IKBKB1.16431255
46TRPM71.14592852
47TBK11.12548349
48PAK31.10040615
49MAPK131.09769487
50PTK2B1.09320427
51NEK21.09116990
52MAP3K71.07988879
53MUSK1.03772909
54MAP4K21.02360427
55MAPK151.02130499
56CHUK1.01923329
57NTRK10.97780884
58INSRR0.96064982
59NTRK30.95330537
60MAP2K40.95198268
61BUB10.93912789
62PRKG20.93303605
63WNK10.93118559
64MAP3K100.92733743
65KSR20.92664468
66MAP3K30.88732327
67MELK0.87612609
68PRKAA10.86429434
69STK240.85652306
70ILK0.83235882
71PDK20.80823492
72KSR10.80665455
73PRKD10.78864165
74PIK3CG0.78601329
75PTK60.78509586
76WNK40.77656394
77LATS20.77614708
78STK390.76756515
79STK110.75704078
80CAMK1D0.75374428
81KIT0.75272717
82MINK10.74545243
83ABL20.74431204
84EPHA30.73752610
85CAMK2D0.73693734
86MAP2K10.73377323
87BLK0.73212429
88MAPKAPK50.70639357
89MAP3K10.69780791
90TIE10.69391612
91CAMKK20.67940215
92CASK0.66540049
93MKNK20.65919108
94PDPK10.65808947
95MAPK120.64519787
96PRKCG0.64514500
97CAMK2G0.62293591
98MAP4K10.62016472
99RPS6KA50.58941113
100LRRK20.57355852
101PAK60.56751022
102PRKCI0.56610314
103PRKCQ0.56477028
104SYK0.56407314
105EPHB20.56050446
106CAMK10.55714707
107STK380.55166861
108PRKCE0.53696927
109MARK30.53458309
110IKBKE0.53123467
111ERBB20.52378193
112DAPK30.51712146
113PRKAA20.51373461
114CHEK20.51343017
115FLT30.51232099
116PRKD20.49637451
117SIK30.49046525
118ITK0.48838635
119MAP2K60.48535247
120CAMK1G0.48166239
121MAPK110.48159375
122PRKCH0.48081125
123TEC0.47715840
124PRKACG0.46423905
125RPS6KA10.46041421
126NEK90.45307874
127TNK20.43838738
128ROCK10.43665296
129RET0.43662882
130TAOK20.43418162
131CDC42BPA0.43144618
132PDK10.42497897
133MAP2K20.40232033
134IRAK30.39252809
135PRKD30.38825226
136KDR0.38599619
137IRAK40.37765742
138CAMK40.37316596
139PNCK0.36972851
140CAMK2A0.36312155
141JAK20.35923017
142MAP3K20.35403379
143RPS6KA60.35181205
144HIPK20.35160957
145CDK80.35030164
146CAMKK10.34931013
147RPS6KL10.33468671
148RPS6KC10.33468671
149MAPK40.31986921
150MTOR0.30988183
151AKT20.30403390
152STK30.28890891
153PRKCZ0.28506236
154FER0.28450143
155SGK30.28177695
156SGK4940.28008196
157SGK2230.28008196
158PRKACA0.27818360
159PRKACB0.26541273
160LCK0.25816112
161RPS6KA20.25812859
162PKN10.25212528
163MAP3K40.24872972
164AKT30.24355793
165CSNK1D0.23734402
166PRKCA0.22959079
167CSNK1A10.21741860
168LYN0.21533304
169GRK60.18810270

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.96822045
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.71423405
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.68019977
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.49699441
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.11812523
6Fatty acid degradation_Homo sapiens_hsa000713.10385986
7Linoleic acid metabolism_Homo sapiens_hsa005913.03049370
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.89601172
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.83390629
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.79555841
11Propanoate metabolism_Homo sapiens_hsa006402.74666748
12Butanoate metabolism_Homo sapiens_hsa006502.70536803
13Phototransduction_Homo sapiens_hsa047442.58059869
14Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.55691957
15Tryptophan metabolism_Homo sapiens_hsa003802.38028868
16Arginine biosynthesis_Homo sapiens_hsa002202.35722321
17Carbon metabolism_Homo sapiens_hsa012002.26261572
18Fatty acid metabolism_Homo sapiens_hsa012122.25262851
19Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.23267363
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.21651208
21Nitrogen metabolism_Homo sapiens_hsa009102.14577478
22Pyruvate metabolism_Homo sapiens_hsa006202.07374913
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.04769058
24Ether lipid metabolism_Homo sapiens_hsa005652.00195493
25Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.98669654
26Intestinal immune network for IgA production_Homo sapiens_hsa046721.86991802
27Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.82598863
28Biosynthesis of amino acids_Homo sapiens_hsa012301.75835443
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.73097864
30Homologous recombination_Homo sapiens_hsa034401.69878609
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.67186105
32PPAR signaling pathway_Homo sapiens_hsa033201.64829452
33Cardiac muscle contraction_Homo sapiens_hsa042601.61800571
34Peroxisome_Homo sapiens_hsa041461.59451730
35Starch and sucrose metabolism_Homo sapiens_hsa005001.48803613
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.48727874
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.47770845
38Nicotine addiction_Homo sapiens_hsa050331.45665503
39Sulfur metabolism_Homo sapiens_hsa009201.43524881
40Fatty acid elongation_Homo sapiens_hsa000621.40521755
41beta-Alanine metabolism_Homo sapiens_hsa004101.40060627
42Parkinsons disease_Homo sapiens_hsa050121.26032807
43Phenylalanine metabolism_Homo sapiens_hsa003601.26012643
44Ovarian steroidogenesis_Homo sapiens_hsa049131.25380972
45Oxidative phosphorylation_Homo sapiens_hsa001901.23894297
46Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.23719286
47Dilated cardiomyopathy_Homo sapiens_hsa054141.23282818
48Bile secretion_Homo sapiens_hsa049761.22359749
49Cysteine and methionine metabolism_Homo sapiens_hsa002701.21474696
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.21176954
51Taste transduction_Homo sapiens_hsa047421.13470248
52Morphine addiction_Homo sapiens_hsa050321.12955926
53Fanconi anemia pathway_Homo sapiens_hsa034601.12851883
54Complement and coagulation cascades_Homo sapiens_hsa046101.12184313
55Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.10611374
56Arachidonic acid metabolism_Homo sapiens_hsa005901.07963279
57Arginine and proline metabolism_Homo sapiens_hsa003301.06923536
58RNA polymerase_Homo sapiens_hsa030201.06646721
59One carbon pool by folate_Homo sapiens_hsa006701.05899783
60Basal transcription factors_Homo sapiens_hsa030221.05873430
61Primary immunodeficiency_Homo sapiens_hsa053401.02721830
62Fat digestion and absorption_Homo sapiens_hsa049751.01818971
63Selenocompound metabolism_Homo sapiens_hsa004501.00106923
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.98948611
65Olfactory transduction_Homo sapiens_hsa047400.95426126
66Calcium signaling pathway_Homo sapiens_hsa040200.95275406
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.94965291
68Drug metabolism - other enzymes_Homo sapiens_hsa009830.94945122
69Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.94281493
70Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93529896
71Folate biosynthesis_Homo sapiens_hsa007900.90608392
72Alzheimers disease_Homo sapiens_hsa050100.88216883
73Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.86833345
74Chemical carcinogenesis_Homo sapiens_hsa052040.85922779
75Dorso-ventral axis formation_Homo sapiens_hsa043200.85202479
76Serotonergic synapse_Homo sapiens_hsa047260.85122674
77Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.83323644
78Insulin resistance_Homo sapiens_hsa049310.82141070
79Histidine metabolism_Homo sapiens_hsa003400.81775823
80Galactose metabolism_Homo sapiens_hsa000520.81374584
81Maturity onset diabetes of the young_Homo sapiens_hsa049500.79292262
82Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.78673010
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.78551602
84Tyrosine metabolism_Homo sapiens_hsa003500.78335734
85Pentose phosphate pathway_Homo sapiens_hsa000300.77154026
86Sulfur relay system_Homo sapiens_hsa041220.76765673
87Lysine degradation_Homo sapiens_hsa003100.76669260
88Asthma_Homo sapiens_hsa053100.76226166
89Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.75350719
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.74160859
91Fructose and mannose metabolism_Homo sapiens_hsa000510.73896314
92Cyanoamino acid metabolism_Homo sapiens_hsa004600.72760334
93Mineral absorption_Homo sapiens_hsa049780.69073987
94NF-kappa B signaling pathway_Homo sapiens_hsa040640.69036428
95Caffeine metabolism_Homo sapiens_hsa002320.67999003
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.65057758
97Circadian entrainment_Homo sapiens_hsa047130.62684714
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62011509
99Glutamatergic synapse_Homo sapiens_hsa047240.61070825
100Glycerolipid metabolism_Homo sapiens_hsa005610.60910336
101Glucagon signaling pathway_Homo sapiens_hsa049220.60744710
102Graft-versus-host disease_Homo sapiens_hsa053320.60614665
103Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.60583604
104Insulin signaling pathway_Homo sapiens_hsa049100.60033400
105Salivary secretion_Homo sapiens_hsa049700.59763129
106NOD-like receptor signaling pathway_Homo sapiens_hsa046210.57156122
107Sphingolipid metabolism_Homo sapiens_hsa006000.56631751
108ABC transporters_Homo sapiens_hsa020100.56094714
109Steroid hormone biosynthesis_Homo sapiens_hsa001400.55198179
110Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53743422
111Retinol metabolism_Homo sapiens_hsa008300.53451219
112Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.50695213
113Regulation of autophagy_Homo sapiens_hsa041400.49536248
114TNF signaling pathway_Homo sapiens_hsa046680.49378148
115Cholinergic synapse_Homo sapiens_hsa047250.48450751
116Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47214507
117GABAergic synapse_Homo sapiens_hsa047270.46666313
118Huntingtons disease_Homo sapiens_hsa050160.45622211
119AMPK signaling pathway_Homo sapiens_hsa041520.45584612
120Glutathione metabolism_Homo sapiens_hsa004800.45299272
121Lysosome_Homo sapiens_hsa041420.44293503
122Central carbon metabolism in cancer_Homo sapiens_hsa052300.43246724
123Allograft rejection_Homo sapiens_hsa053300.42013104
124Staphylococcus aureus infection_Homo sapiens_hsa051500.41355095
125Metabolic pathways_Homo sapiens_hsa011000.41103321
126Circadian rhythm_Homo sapiens_hsa047100.41014726
127Oxytocin signaling pathway_Homo sapiens_hsa049210.38484624
128Long-term depression_Homo sapiens_hsa047300.38129155
129Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37828450
130RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.37226431
131Autoimmune thyroid disease_Homo sapiens_hsa053200.36023317
132Type II diabetes mellitus_Homo sapiens_hsa049300.35784174
133Gastric acid secretion_Homo sapiens_hsa049710.34593735
134cAMP signaling pathway_Homo sapiens_hsa040240.30910483
135RNA degradation_Homo sapiens_hsa030180.30582052
136Prion diseases_Homo sapiens_hsa050200.29190675
137Jak-STAT signaling pathway_Homo sapiens_hsa046300.29116695
138Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29036511
139Type I diabetes mellitus_Homo sapiens_hsa049400.27602969
140Viral myocarditis_Homo sapiens_hsa054160.26099495
141MAPK signaling pathway_Homo sapiens_hsa040100.25857242
142Fatty acid biosynthesis_Homo sapiens_hsa000610.25599170
143Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.23545649
144HIF-1 signaling pathway_Homo sapiens_hsa040660.17505358
145Longevity regulating pathway - mammal_Homo sapiens_hsa042110.16497618
146cGMP-PKG signaling pathway_Homo sapiens_hsa040220.14775179
147Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.14348505
148Steroid biosynthesis_Homo sapiens_hsa001000.14283244
149Insulin secretion_Homo sapiens_hsa049110.14089944
150Carbohydrate digestion and absorption_Homo sapiens_hsa049730.11121123
151Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.10842829
152Glycerophospholipid metabolism_Homo sapiens_hsa005640.07079077
153Vitamin digestion and absorption_Homo sapiens_hsa049770.06375599
154Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.03403640
155Vitamin B6 metabolism_Homo sapiens_hsa007500.01349136
156Vascular smooth muscle contraction_Homo sapiens_hsa042700.00200775
157Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0171864

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