PNPLA3

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 protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1biotin metabolic process (GO:0006768)7.93450450
2low-density lipoprotein particle clearance (GO:0034383)7.72633410
3regulation of sequestering of triglyceride (GO:0010889)7.51540267
4fatty acid transmembrane transport (GO:1902001)6.59916208
5white fat cell differentiation (GO:0050872)6.56176354
6carnitine shuttle (GO:0006853)6.33428032
7brown fat cell differentiation (GO:0050873)6.21320057
8* triglyceride catabolic process (GO:0019433)6.21181214
9fatty-acyl-CoA biosynthetic process (GO:0046949)5.95146673
10* triglyceride biosynthetic process (GO:0019432)5.80599408
11acyl-CoA biosynthetic process (GO:0071616)5.74827543
12thioester biosynthetic process (GO:0035384)5.74827543
13* neutral lipid catabolic process (GO:0046461)5.72801972
14* acylglycerol catabolic process (GO:0046464)5.72801972
15valine metabolic process (GO:0006573)5.71471456
16* neutral lipid biosynthetic process (GO:0046460)5.56665315
17* acylglycerol biosynthetic process (GO:0046463)5.56665315
18positive regulation of fatty acid beta-oxidation (GO:0032000)5.51528084
19long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)5.48933191
20acetyl-CoA metabolic process (GO:0006084)5.39534188
21fatty-acyl-CoA metabolic process (GO:0035337)5.32072719
22fatty acid beta-oxidation (GO:0006635)5.26632364
23long-chain fatty-acyl-CoA metabolic process (GO:0035336)5.21277305
24positive regulation of fatty acid oxidation (GO:0046321)5.19383265
25glyoxylate metabolic process (GO:0046487)5.02196375
26alpha-linolenic acid metabolic process (GO:0036109)4.93976216
27exogenous drug catabolic process (GO:0042738)4.89777087
28carnitine transmembrane transport (GO:1902603)4.85351364
29coenzyme A biosynthetic process (GO:0015937)4.67963691
30fatty acid oxidation (GO:0019395)4.66156017
31drug catabolic process (GO:0042737)4.62356697
32sulfur amino acid catabolic process (GO:0000098)4.61725422
33regulation of cholesterol storage (GO:0010885)4.59650527
34lipid oxidation (GO:0034440)4.58061246
35acylglycerol homeostasis (GO:0055090)4.56618778
36triglyceride homeostasis (GO:0070328)4.56618778
37fatty acid catabolic process (GO:0009062)4.54856452
38fatty acid homeostasis (GO:0055089)4.54680916
39branched-chain amino acid catabolic process (GO:0009083)4.49437402
40* triglyceride metabolic process (GO:0006641)4.47749015
41amino-acid betaine transport (GO:0015838)4.47069623
42carnitine transport (GO:0015879)4.47069623
43serine family amino acid catabolic process (GO:0009071)4.46903319
44negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.45873095
45branched-chain amino acid metabolic process (GO:0009081)4.44487376
46lipid particle organization (GO:0034389)4.41536880
47plasma lipoprotein particle clearance (GO:0034381)4.41405953
48lipid storage (GO:0019915)4.40514018
49regulation of cAMP-dependent protein kinase activity (GO:2000479)4.40317190
50* glycerolipid catabolic process (GO:0046503)4.39941065
51positive regulation of lipid catabolic process (GO:0050996)4.34976524
52pyrimidine nucleobase catabolic process (GO:0006208)4.24391493
53* acylglycerol metabolic process (GO:0006639)4.20325015
54* neutral lipid metabolic process (GO:0006638)4.14661637
55response to dietary excess (GO:0002021)4.14569087
56regulation of fibrinolysis (GO:0051917)4.08134186
57regulation of fatty acid oxidation (GO:0046320)4.06232141
58regulation of triglyceride catabolic process (GO:0010896)4.06059320
59regulation of fatty acid beta-oxidation (GO:0031998)4.05925078
60CDP-diacylglycerol biosynthetic process (GO:0016024)4.05525420
61pantothenate metabolic process (GO:0015939)4.00378169
62negative regulation of fatty acid biosynthetic process (GO:0045717)3.96875675
63omega-hydroxylase P450 pathway (GO:0097267)3.94226067
64glycine metabolic process (GO:0006544)3.91889396
65positive regulation of fatty acid metabolic process (GO:0045923)3.78341447
66negative regulation of fibrinolysis (GO:0051918)3.77279218
67triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.76677052
68cholesterol biosynthetic process (GO:0006695)3.76509322
69behavioral response to nicotine (GO:0035095)3.76080503
70CDP-diacylglycerol metabolic process (GO:0046341)3.72486733
71coenzyme A metabolic process (GO:0015936)3.69557976
72erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.68494587
73L-phenylalanine catabolic process (GO:0006559)3.68494587
74acyl-CoA metabolic process (GO:0006637)3.67685924
75thioester metabolic process (GO:0035383)3.67685924
76heme transport (GO:0015886)3.67596965
77monocarboxylic acid catabolic process (GO:0072329)3.67418737
78regulation of triglyceride metabolic process (GO:0090207)3.61103610
79intracellular lipid transport (GO:0032365)3.57174736
80cellular response to lithium ion (GO:0071285)3.55949823
81regulation of triglyceride biosynthetic process (GO:0010866)3.55229244
82sterol biosynthetic process (GO:0016126)3.51829066
83epoxygenase P450 pathway (GO:0019373)3.50869902
84glycerol metabolic process (GO:0006071)3.49009088
85linoleic acid metabolic process (GO:0043651)3.46639929
86oxidative demethylation (GO:0070989)3.45880216
87negative regulation of sterol transport (GO:0032372)3.45724636
88negative regulation of cholesterol transport (GO:0032375)3.45724636
89nucleobase catabolic process (GO:0046113)3.45187645
90short-chain fatty acid metabolic process (GO:0046459)3.44848596
91serine family amino acid metabolic process (GO:0009069)3.44638074
92NADH metabolic process (GO:0006734)3.43820116
93aromatic amino acid family catabolic process (GO:0009074)3.41317554
94long-chain fatty acid transport (GO:0015909)3.40554052
95water-soluble vitamin biosynthetic process (GO:0042364)3.39865095
96negative regulation of response to food (GO:0032096)3.38558935
97negative regulation of appetite (GO:0032099)3.38558935
98high-density lipoprotein particle remodeling (GO:0034375)3.35755937
99serine family amino acid biosynthetic process (GO:0009070)3.35057734
100complement activation, alternative pathway (GO:0006957)3.33809436
101quaternary ammonium group transport (GO:0015697)3.32690860
102peptidyl-glutamic acid carboxylation (GO:0017187)3.31433538
103protein carboxylation (GO:0018214)3.31433538
104positive regulation of triglyceride metabolic process (GO:0090208)3.30379344
105positive regulation of lipid storage (GO:0010884)3.29653669
106fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.28079311
107diacylglycerol metabolic process (GO:0046339)3.24672212
108cysteine metabolic process (GO:0006534)3.22680184
109ovulation from ovarian follicle (GO:0001542)3.22534210
110negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.21602955
111negative regulation of lipase activity (GO:0060192)3.21293626
112proline biosynthetic process (GO:0006561)3.20591746
113alanine transport (GO:0032328)3.19999589
114NADP metabolic process (GO:0006739)3.19328783
115indole-containing compound catabolic process (GO:0042436)3.17160192
116indolalkylamine catabolic process (GO:0046218)3.17160192
117tryptophan catabolic process (GO:0006569)3.17160192
118protein heterotrimerization (GO:0070208)3.15318439
119alditol metabolic process (GO:0019400)3.14085879
120regulation of sterol transport (GO:0032371)3.11503279
121regulation of cholesterol transport (GO:0032374)3.11503279
122regulation of protein activation cascade (GO:2000257)3.11126956
123positive regulation of cholesterol transport (GO:0032376)3.10992074
124positive regulation of sterol transport (GO:0032373)3.10992074
125* cellular lipid catabolic process (GO:0044242)3.10805738
126carnitine metabolic process (GO:0009437)3.09163133
127L-serine metabolic process (GO:0006563)3.09102738
128positive regulation of cholesterol efflux (GO:0010875)3.08982211
129phosphatidic acid metabolic process (GO:0046473)3.07758232
130phosphatidic acid biosynthetic process (GO:0006654)3.07758232
131isoprenoid biosynthetic process (GO:0008299)3.07623130
132blood coagulation, intrinsic pathway (GO:0007597)3.05598067
133reverse cholesterol transport (GO:0043691)3.04584233
134tricarboxylic acid metabolic process (GO:0072350)3.04088886
135alpha-amino acid catabolic process (GO:1901606)3.04081254
136intestinal cholesterol absorption (GO:0030299)3.03688671
137positive regulation of cellular response to insulin stimulus (GO:1900078)3.03599090
138regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.03567914
139bile acid biosynthetic process (GO:0006699)3.03216231
140arginine metabolic process (GO:0006525)3.03103897
141kynurenine metabolic process (GO:0070189)3.02612988
142amino-acid betaine metabolic process (GO:0006577)3.02532849
143L-phenylalanine metabolic process (GO:0006558)3.01615806
144erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.01615806
145cellular glucuronidation (GO:0052695)2.98699872
146aldehyde catabolic process (GO:0046185)2.98500204
147drug metabolic process (GO:0017144)2.98055642
148glucuronate metabolic process (GO:0019585)2.96710518
149uronic acid metabolic process (GO:0006063)2.96710518
150plasma lipoprotein particle remodeling (GO:0034369)2.95029984
151protein-lipid complex remodeling (GO:0034368)2.95029984
152macromolecular complex remodeling (GO:0034367)2.95029984
153cellular ketone body metabolic process (GO:0046950)2.91824951
154ethanol oxidation (GO:0006069)2.89009653
155L-methionine salvage (GO:0071267)2.88778737
156L-methionine biosynthetic process (GO:0071265)2.88778737
157amino acid salvage (GO:0043102)2.88778737
158fibrinolysis (GO:0042730)2.85721287
159regulation of complement activation (GO:0030449)2.85627315
160regulation of plasminogen activation (GO:0010755)2.84125817
161S-adenosylmethionine metabolic process (GO:0046500)2.82468077
162tryptophan metabolic process (GO:0006568)2.78506329
163iron coordination entity transport (GO:1901678)2.74016197
164cholesterol efflux (GO:0033344)2.73904134
165ketone body metabolic process (GO:1902224)2.70875002
166phospholipid efflux (GO:0033700)2.69403920
167cellular amino acid catabolic process (GO:0009063)2.66384640
168C4-dicarboxylate transport (GO:0015740)2.66341371
169lysine catabolic process (GO:0006554)2.64999152
170lysine metabolic process (GO:0006553)2.64999152
171phospholipid homeostasis (GO:0055091)2.62996915
172response to pheromone (GO:0019236)2.60648724
173bile acid metabolic process (GO:0008206)2.59888443
174vitamin biosynthetic process (GO:0009110)2.59475103
175alkaloid metabolic process (GO:0009820)2.59114178
176regulation of cholesterol esterification (GO:0010872)2.57963236
177peptidyl-glutamic acid modification (GO:0018200)2.56955624
178arginine catabolic process (GO:0006527)2.56595837
179indolalkylamine metabolic process (GO:0006586)2.55713555
180aspartate family amino acid catabolic process (GO:0009068)2.54827761
181behavioral response to ethanol (GO:0048149)2.52784975
182aromatic amino acid family metabolic process (GO:0009072)2.50414368
183tyrosine metabolic process (GO:0006570)2.49228490
184cellular response to cholesterol (GO:0071397)2.48336898
185response to nitrosative stress (GO:0051409)2.47254557
186very-low-density lipoprotein particle assembly (GO:0034379)2.44306830
187presynaptic membrane assembly (GO:0097105)2.40883019
188cellular biogenic amine catabolic process (GO:0042402)2.39354326
189amine catabolic process (GO:0009310)2.39354326
190phenylpropanoid metabolic process (GO:0009698)2.39317569

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse5.69863911
2* RXR_22158963_ChIP-Seq_LIVER_Mouse4.33561492
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.22002803
4PPARA_22158963_ChIP-Seq_LIVER_Mouse3.56741020
5* LXR_22158963_ChIP-Seq_LIVER_Mouse3.48913801
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.47600926
7ZNF274_21170338_ChIP-Seq_K562_Hela3.34868173
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.09915464
9* CLOCK_20551151_ChIP-Seq_293T_Human3.01845043
10GBX2_23144817_ChIP-Seq_PC3_Human2.90979636
11* NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.72722743
12NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.62740762
13IGF1R_20145208_ChIP-Seq_DFB_Human2.42719857
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30968569
15VDR_22108803_ChIP-Seq_LS180_Human2.08073256
16PPARG_20176806_ChIP-Seq_3T3-L1_Mouse2.07437352
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.01025800
18PPARG_19300518_ChIP-PET_3T3-L1_Mouse13.1003524
19EZH2_22144423_ChIP-Seq_EOC_Human1.99690201
20FUS_26573619_Chip-Seq_HEK293_Human1.98831412
21POU3F2_20337985_ChIP-ChIP_501MEL_Human1.96647992
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.94544721
23P300_19829295_ChIP-Seq_ESCs_Human1.91570180
24TP63_17297297_ChIP-ChIP_HaCaT_Human1.89469437
25KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.85961072
26CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.84963427
27EWS_26573619_Chip-Seq_HEK293_Human1.81204691
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.79515807
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.78020577
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76928424
31TAF15_26573619_Chip-Seq_HEK293_Human1.76768162
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.75963474
33SALL1_21062744_ChIP-ChIP_HESCs_Human1.74349283
34STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.71115839
35EGR1_23403033_ChIP-Seq_LIVER_Mouse1.64791203
36GABP_17652178_ChIP-ChIP_JURKAT_Human1.62587220
37ZNF263_19887448_ChIP-Seq_K562_Human1.61426957
38SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.59052079
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58902402
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.55190189
41PCGF2_27294783_Chip-Seq_NPCs_Mouse1.55172798
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.54642341
43ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.53106090
44PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.51406825
45POU5F1_16153702_ChIP-ChIP_HESCs_Human1.46607678
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.45347645
47CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.41197916
48IRF1_19129219_ChIP-ChIP_H3396_Human1.41079199
49NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.38363583
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.37258336
51CBP_20019798_ChIP-Seq_JUKART_Human1.35061326
52IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.35061326
53ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.33724464
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33678281
55SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32533473
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30664437
57MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.30521787
58EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.30416612
59ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.30247522
60TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.29956473
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.29932593
62MYC_18940864_ChIP-ChIP_HL60_Human1.28298498
63UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26884223
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26496130
65MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26293665
66NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.25593991
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.25325522
68NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.24414820
69NANOG_19829295_ChIP-Seq_ESCs_Human1.23537681
70SOX2_19829295_ChIP-Seq_ESCs_Human1.23537681
71SUZ12_27294783_Chip-Seq_NPCs_Mouse1.22985593
72ER_23166858_ChIP-Seq_MCF-7_Human1.22366957
73* STAT3_23295773_ChIP-Seq_U87_Human1.22127989
74PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.19890035
75ESR2_21235772_ChIP-Seq_MCF-7_Human1.19263496
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19058617
77TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19058617
78ELK1_19687146_ChIP-ChIP_HELA_Human1.18743996
79GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18203233
80SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16965973
81MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16552238
82RNF2_27304074_Chip-Seq_NSC_Mouse1.15889856
83EST1_17652178_ChIP-ChIP_JURKAT_Human1.15807719
84NFE2_27457419_Chip-Seq_LIVER_Mouse1.15575433
85SMAD4_21799915_ChIP-Seq_A2780_Human1.15479635
86KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.15224582
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.15207915
88TRIM28_21343339_ChIP-Seq_HEK293_Human1.14840906
89KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14780294
90TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13617251
91TCF4_22108803_ChIP-Seq_LS180_Human1.13428037
92PPAR_26484153_Chip-Seq_NCI-H1993_Human1.13318914
93AR_25329375_ChIP-Seq_VCAP_Human1.12019046
94SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.11144569
95NANOG_16153702_ChIP-ChIP_HESCs_Human1.09656941
96SOX2_16153702_ChIP-ChIP_HESCs_Human1.09501895
97RXRA_24833708_ChIP-Seq_LIVER_Mouse1.08621962
98SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.08565144
99RUNX2_22187159_ChIP-Seq_PCA_Human1.07122668
100OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06583974
101* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05065347
102CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04961343
103TCF4_23295773_ChIP-Seq_U87_Human1.04736588
104EED_16625203_ChIP-ChIP_MESCs_Mouse1.04636521
105BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04424466
106* REST_21632747_ChIP-Seq_MESCs_Mouse1.01657357
107HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.01545977
108LXR_22292898_ChIP-Seq_THP-1_Human1.00801564
109AR_21572438_ChIP-Seq_LNCaP_Human0.99887706
110RBPJ_22232070_ChIP-Seq_NCS_Mouse0.99850240
111TP53_22573176_ChIP-Seq_HFKS_Human0.99622797
112CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.99517565
113TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.99112673
114FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98662397
115AR_20517297_ChIP-Seq_VCAP_Human0.98411238
116HTT_18923047_ChIP-ChIP_STHdh_Human0.97558120
117THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.97231560
118E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.96584293
119RARG_19884340_ChIP-ChIP_MEFs_Mouse0.95397814
120POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.95166809
121SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.95158714
122POU5F1_16518401_ChIP-PET_MESCs_Mouse0.95011548
123SMAD4_21741376_ChIP-Seq_EPCs_Human0.93788449
124CRX_20693478_ChIP-Seq_RETINA_Mouse0.93629716
125PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.92762162
126JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.92612905
127RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91533279
128TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91438397
129SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.91219211
130PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.90093882
131KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.89257060
132KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.89257060
133KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.89257060
134FOXA1_27270436_Chip-Seq_PROSTATE_Human0.89072497
135FOXA1_25329375_ChIP-Seq_VCAP_Human0.89072497
136FLI1_21867929_ChIP-Seq_TH2_Mouse0.88624021
137ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88607655
138CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.88283507
139EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87320934
140CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.86957797
141TBX3_20139965_ChIP-Seq_ESCs_Mouse0.86946432
142ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.86555141
143TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.85343872
144TCF3_18692474_ChIP-Seq_MESCs_Mouse0.82512822
145* TET1_21451524_ChIP-Seq_MESCs_Mouse0.81481044
146BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80959243
147SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.80910799
148KDM2B_26808549_Chip-Seq_K562_Human0.80316881
149RACK7_27058665_Chip-Seq_MCF-7_Human0.77909782
150EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.77219992
151KLF4_19829295_ChIP-Seq_ESCs_Human0.76888947
152EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.76671448
153FOXA2_19822575_ChIP-Seq_HepG2_Human0.76446921
154STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.75945843
155RARB_24833708_ChIP-Seq_LIVER_Mouse0.73409590
156RAD21_21589869_ChIP-Seq_MESCs_Mouse0.73204262
157SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.71697721
158TET1_21490601_ChIP-Seq_MESCs_Mouse0.71613913
159ELK4_26923725_Chip-Seq_MESODERM_Mouse0.71355678
160SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.70925264
161* HNF4A_19822575_ChIP-Seq_HepG2_Human0.70716076
162TP53_20018659_ChIP-ChIP_R1E_Mouse0.69418135
163* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.68491827
164* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.68482891
165SMC4_20622854_ChIP-Seq_HELA_Human0.67644685
166TBX20_22328084_ChIP-Seq_HEART_Mouse0.67339309
167TBX20_22080862_ChIP-Seq_HEART_Mouse0.67339309
168CTCF_27219007_Chip-Seq_Bcells_Human0.66881180
169SOX9_24532713_ChIP-Seq_HFSC_Mouse0.66697558
170FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.65969109
171RARA_24833708_ChIP-Seq_LIVER_Mouse0.65949256
172NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.65908812
173HIF1A_21447827_ChIP-Seq_MCF-7_Human0.65415723
174SPI1_26923725_Chip-Seq_HPCs_Mouse0.64494610
175OCT4_19829295_ChIP-Seq_ESCs_Human0.62909119
176FLI1_21867929_ChIP-Seq_CD8_Mouse0.62793649
177TCF3_18692474_ChIP-Seq_MEFs_Mouse0.62518083
178STAT3_1855785_ChIP-Seq_MESCs_Mouse0.62035701
179* TP63_22573176_ChIP-Seq_HFKS_Human0.60756051
180NANOG_16518401_ChIP-PET_MESCs_Mouse0.60689171
181BCAT_22108803_ChIP-Seq_LS180_Human0.60437878
182ESR1_20079471_ChIP-ChIP_T-47D_Human0.59868185
183PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.58523532
184BCOR_27268052_Chip-Seq_Bcells_Human0.57716225
185E2F1_20622854_ChIP-Seq_HELA_Human0.57513497
186RAC3_21632823_ChIP-Seq_H3396_Human0.56788834
187MYC_27129775_Chip-Seq_CORNEA_Mouse0.56647270
188* NANOG_18692474_ChIP-Seq_MESCs_Mouse0.56561775
189* CSB_26484114_Chip-Seq_FIBROBLAST_Human0.56188755
190GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.55666551

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose7.76497109
2MP0005666_abnormal_adipose_tissue5.16596312
3MP0004130_abnormal_muscle_cell4.78285229
4MP0004185_abnormal_adipocyte_glucose4.76569736
5MP0003195_calcinosis3.80423094
6MP0005375_adipose_tissue_phenotype3.62191697
7MP0002971_abnormal_brown_adipose3.51870292
8MP0010329_abnormal_lipoprotein_level3.51383351
9MP0005365_abnormal_bile_salt3.24863440
10MP0002876_abnormal_thyroid_physiology2.95491062
11MP0009115_abnormal_fat_cell2.86929773
12MP0002139_abnormal_hepatobiliary_system2.85967208
13MP0003191_abnormal_cellular_cholesterol2.67170074
14MP0005334_abnormal_fat_pad2.62532267
15MP0008438_abnormal_cutaneous_collagen2.61234602
16MP0002118_abnormal_lipid_homeostasis2.54423455
17MP0006292_abnormal_olfactory_placode2.49328432
18MP0002837_dystrophic_cardiac_calcinosis2.42811954
19MP0002970_abnormal_white_adipose2.38048888
20MP0000013_abnormal_adipose_tissue2.30338253
21MP0000003_abnormal_adipose_tissue2.30257511
22MP0005275_abnormal_skin_tensile2.28139536
23MP0003890_abnormal_embryonic-extraembry2.22998544
24MP0000566_synostosis2.21096970
25MP0004133_heterotaxia2.18335571
26MP0002796_impaired_skin_barrier2.11097774
27MP0005535_abnormal_body_temperature2.09656386
28MP0001661_extended_life_span2.04891280
29MP0001529_abnormal_vocalization2.04825153
30MP0005360_urolithiasis2.03821142
31MP0003122_maternal_imprinting2.02006939
32MP0003136_yellow_coat_color1.93087785
33MP0002102_abnormal_ear_morphology1.84521575
34MP0002938_white_spotting1.80375527
35MP0000609_abnormal_liver_physiology1.75571303
36MP0005085_abnormal_gallbladder_physiolo1.74029319
37MP0001984_abnormal_olfaction1.59880261
38MP0005187_abnormal_penis_morphology1.59625834
39MP0005448_abnormal_energy_balance1.59354918
40MP0008877_abnormal_DNA_methylation1.57858011
41MP0005084_abnormal_gallbladder_morpholo1.54682395
42MP0001293_anophthalmia1.54009103
43MP0003880_abnormal_central_pattern1.53876264
44MP0002653_abnormal_ependyma_morphology1.53161727
45MP0000778_abnormal_nervous_system1.48888690
46MP0003959_abnormal_lean_body1.47538173
47MP0005452_abnormal_adipose_tissue1.44666852
48MP0003937_abnormal_limbs/digits/tail_de1.44003078
49MP0001764_abnormal_homeostasis1.43842027
50MP0005646_abnormal_pituitary_gland1.43225797
51MP0010030_abnormal_orbit_morphology1.43152055
52MP0002078_abnormal_glucose_homeostasis1.40467774
53MP0003283_abnormal_digestive_organ1.37595744
54MP0005645_abnormal_hypothalamus_physiol1.36066295
55MP0003121_genomic_imprinting1.35889360
56MP0003186_abnormal_redox_activity1.35445372
57MP0002282_abnormal_trachea_morphology1.33579556
58MP0003567_abnormal_fetal_cardiomyocyte1.32866932
59MP0002138_abnormal_hepatobiliary_system1.32666721
60MP0003119_abnormal_digestive_system1.32221105
61MP0009697_abnormal_copulation1.31988135
62MP0003646_muscle_fatigue1.31422834
63MP0005332_abnormal_amino_acid1.31261371
64MP0003690_abnormal_glial_cell1.31136324
65MP0001968_abnormal_touch/_nociception1.26292417
66MP0002009_preneoplasia1.25443899
67MP0002736_abnormal_nociception_after1.25325450
68MP0003011_delayed_dark_adaptation1.25227018
69MP0006276_abnormal_autonomic_nervous1.24459537
70MP0001666_abnormal_nutrient_absorption1.23501660
71MP0003315_abnormal_perineum_morphology1.22821122
72MP0000049_abnormal_middle_ear1.22132633
73MP0003705_abnormal_hypodermis_morpholog1.21250907
74MP0002060_abnormal_skin_morphology1.20037752
75MP0002332_abnormal_exercise_endurance1.19078728
76MP0003718_maternal_effect1.16610384
77MP0006036_abnormal_mitochondrial_physio1.12326049
78MP0004019_abnormal_vitamin_homeostasis1.11625687
79MP0005394_taste/olfaction_phenotype1.11281071
80MP0005499_abnormal_olfactory_system1.11281071
81MP0009046_muscle_twitch1.09556401
82MP0009053_abnormal_anal_canal1.07856603
83MP0004142_abnormal_muscle_tone1.07372261
84MP0008789_abnormal_olfactory_epithelium1.05396009
85MP0005319_abnormal_enzyme/_coenzyme1.04894680
86MP0002233_abnormal_nose_morphology1.04347852
87MP0001501_abnormal_sleep_pattern1.04170849
88MP0004233_abnormal_muscle_weight1.03627134
89MP0003941_abnormal_skin_development1.03587099
90MP0000647_abnormal_sebaceous_gland1.03512726
91MP0002638_abnormal_pupillary_reflex1.02920502
92MP0005584_abnormal_enzyme/coenzyme_acti1.02196188
93MP0003828_pulmonary_edema1.01748724
94MP0003868_abnormal_feces_composition1.01221466
95MP0008775_abnormal_heart_ventricle0.99692923
96MP0005551_abnormal_eye_electrophysiolog0.98523388
97MP0001881_abnormal_mammary_gland0.97915128
98MP0002751_abnormal_autonomic_nervous0.97568402
99MP0000631_abnormal_neuroendocrine_gland0.96157380
100MP0005647_abnormal_sex_gland0.95770564
101MP0003953_abnormal_hormone_level0.94529430
102MP0008875_abnormal_xenobiotic_pharmacok0.93937736
103MP0003950_abnormal_plasma_membrane0.93666254
104MP0006072_abnormal_retinal_apoptosis0.89789936
105MP0005171_absent_coat_pigmentation0.89585120
106MP0001286_abnormal_eye_development0.89493242
107MP0005391_vision/eye_phenotype0.88772385
108MP0002234_abnormal_pharynx_morphology0.88491544
109MP0001177_atelectasis0.88483688
110MP0005501_abnormal_skin_physiology0.87040774
111MP0001727_abnormal_embryo_implantation0.85879759
112MP0001299_abnormal_eye_distance/0.85814978
113MP0005253_abnormal_eye_physiology0.84493011
114MP0009745_abnormal_behavioral_response0.83795637
115MP0000372_irregular_coat_pigmentation0.83086674
116MP0003045_fibrosis0.82933893
117MP0002909_abnormal_adrenal_gland0.82081221
118MP0002254_reproductive_system_inflammat0.81826427
119MP0001485_abnormal_pinna_reflex0.81530061
120MP0002752_abnormal_somatic_nervous0.80463661
121MP0002557_abnormal_social/conspecific_i0.80369322
122MP0005379_endocrine/exocrine_gland_phen0.79004578
123MP0006138_congestive_heart_failure0.77276201
124MP0002272_abnormal_nervous_system0.77029759
125MP0000751_myopathy0.75842818
126MP0003938_abnormal_ear_development0.75771810
127MP0003724_increased_susceptibility_to0.75244847
128MP0003755_abnormal_palate_morphology0.74115975
129MP0009840_abnormal_foam_cell0.72929451
130MP0001486_abnormal_startle_reflex0.70858446
131MP0003942_abnormal_urinary_system0.70742809
132MP0002168_other_aberrant_phenotype0.70401572
133MP0003123_paternal_imprinting0.70112606
134MP0001986_abnormal_taste_sensitivity0.69856512
135MP0002572_abnormal_emotion/affect_behav0.69780009
136MP0004272_abnormal_basement_membrane0.68571241
137MP0009384_cardiac_valve_regurgitation0.67841965
138MP0000955_abnormal_spinal_cord0.67663176
139MP0005423_abnormal_somatic_nervous0.67111278
140MP0004885_abnormal_endolymph0.67012541
141MP0002184_abnormal_innervation0.66779211
142MP0002160_abnormal_reproductive_system0.66642150
143MP0004924_abnormal_behavior0.66405405
144MP0005386_behavior/neurological_phenoty0.66405405
145MP0005330_cardiomyopathy0.66404099
146MP0001188_hyperpigmentation0.66220233
147MP0000026_abnormal_inner_ear0.65703706
148MP0002090_abnormal_vision0.65623132
149MP0009780_abnormal_chondrocyte_physiolo0.65118542
150MP0000537_abnormal_urethra_morphology0.65079167
151MP0003948_abnormal_gas_homeostasis0.63837280
152MP0005266_abnormal_metabolism0.63444754
153MP0005395_other_phenotype0.61772685
154MP0005451_abnormal_body_composition0.59184190
155MP0005620_abnormal_muscle_contractility0.57740480
156MP0004087_abnormal_muscle_fiber0.57133620
157MP0003252_abnormal_bile_duct0.56985520
158MP0000343_altered_response_to0.56502424
159MP0002269_muscular_atrophy0.55777569
160MP0000759_abnormal_skeletal_muscle0.55302522
161MP0005376_homeostasis/metabolism_phenot0.55266656
162MP0002249_abnormal_larynx_morphology0.55134970
163MP0001324_abnormal_eye_pigmentation0.53855172
164MP0002069_abnormal_eating/drinking_beha0.52731175
165MP0001756_abnormal_urination0.51996370
166MP0003221_abnormal_cardiomyocyte_apopto0.51573091
167MP0008872_abnormal_physiological_respon0.51459364
168MP0004782_abnormal_surfactant_physiolog0.50908877
169MP0005058_abnormal_lysosome_morphology0.50875588
170MP0005164_abnormal_response_to0.50024564
171MP0000639_abnormal_adrenal_gland0.49644894
172MP0002108_abnormal_muscle_morphology0.48596388
173MP0005385_cardiovascular_system_phenoty0.48268995
174MP0001544_abnormal_cardiovascular_syste0.48268995
175MP0000598_abnormal_liver_morphology0.47421876
176MP0000427_abnormal_hair_cycle0.46610401
177MP0005195_abnormal_posterior_eye0.46031704

Predicted human phenotypes

RankGene SetZ-score
1Oligomenorrhea (HP:0000876)7.04180727
2Hyperglycinuria (HP:0003108)6.87389440
3Acanthosis nigricans (HP:0000956)6.30783315
4Abnormality of glycine metabolism (HP:0010895)5.70645080
5Abnormality of serine family amino acid metabolism (HP:0010894)5.70645080
6Hypertriglyceridemia (HP:0002155)5.40246290
7Hyperglycinemia (HP:0002154)4.66031888
8Pigmentary retinal degeneration (HP:0001146)4.50051821
9Prolonged partial thromboplastin time (HP:0003645)4.36709678
10Growth hormone excess (HP:0000845)4.32967290
11Insulin-resistant diabetes mellitus (HP:0000831)4.30000081
12Long foot (HP:0001833)4.08779473
13Hyperlipoproteinemia (HP:0010980)3.94676704
14Abnormality of fatty-acid metabolism (HP:0004359)3.79424017
15Myoglobinuria (HP:0002913)3.76566370
16Hypoalphalipoproteinemia (HP:0003233)3.74532365
17Abnormality of proline metabolism (HP:0010907)3.71709600
18Hydroxyprolinuria (HP:0003080)3.71709600
19Hyperammonemia (HP:0001987)3.70674201
20Ketosis (HP:0001946)3.68295891
21Ketoacidosis (HP:0001993)3.65477926
22Complement deficiency (HP:0004431)3.62789647
23Hypoglycemic coma (HP:0001325)3.59076716
24Epidermoid cyst (HP:0200040)3.52117520
25Turricephaly (HP:0000262)3.40890565
26Xanthomatosis (HP:0000991)3.37169500
27Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.31017286
28Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.22447888
29Myocardial infarction (HP:0001658)3.20523569
30Insulin resistance (HP:0000855)3.17034517
31Subcapsular cataract (HP:0000523)2.99755194
32Abnormality of monocarboxylic acid metabolism (HP:0010996)2.97935283
33Abnormality of dicarboxylic acid metabolism (HP:0010995)2.96726296
34Dicarboxylic aciduria (HP:0003215)2.96726296
35Increased muscle lipid content (HP:0009058)2.92000608
36Abnormal hemoglobin (HP:0011902)2.89822592
37Abnormality of serum amino acid levels (HP:0003112)2.89481555
38Hypolipoproteinemia (HP:0010981)2.84525699
39Hyperpituitarism (HP:0010514)2.84482307
40Rhabdomyolysis (HP:0003201)2.83161110
41True hermaphroditism (HP:0010459)2.79295144
42Pancreatic fibrosis (HP:0100732)2.76942535
43Hemorrhage of the eye (HP:0011885)2.72923126
44Molar tooth sign on MRI (HP:0002419)2.71422675
45Abnormality of midbrain morphology (HP:0002418)2.71422675
46Pancreatic cysts (HP:0001737)2.65218993
47Hypercholesterolemia (HP:0003124)2.56281646
48Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.55561021
49Abnormality of alanine metabolism (HP:0010916)2.55561021
50Hyperalaninemia (HP:0003348)2.55561021
51Abnormality of complement system (HP:0005339)2.55305901
52Difficulty running (HP:0009046)2.54150981
53Abnormal biliary tract physiology (HP:0012439)2.52617358
54Bile duct proliferation (HP:0001408)2.52617358
55Alopecia of scalp (HP:0002293)2.51757950
56Reduced subcutaneous adipose tissue (HP:0003758)2.51563334
57Nausea (HP:0002018)2.51561659
58Hyperthyroidism (HP:0000836)2.49893497
59Conjugated hyperbilirubinemia (HP:0002908)2.48510929
60Chronic hepatic failure (HP:0100626)2.48093245
61Congenital stationary night blindness (HP:0007642)2.43881460
62Abnormality of glutamine family amino acid metabolism (HP:0010902)2.42755366
63Abnormality of the labia minora (HP:0012880)2.42195394
64Multiple enchondromatosis (HP:0005701)2.39885246
65Delayed CNS myelination (HP:0002188)2.39322523
66Nephronophthisis (HP:0000090)2.38065397
67Pancreatitis (HP:0001733)2.35594520
68Intestinal atresia (HP:0011100)2.34906127
69Large hands (HP:0001176)2.34081295
70Septo-optic dysplasia (HP:0100842)2.31896084
71Thyroid-stimulating hormone excess (HP:0002925)2.31704471
72Lethargy (HP:0001254)2.30670912
73Bilateral microphthalmos (HP:0007633)2.29380826
74Polyphagia (HP:0002591)2.29345305
75Hypotrichosis (HP:0001006)2.27614648
76Prenatal maternal abnormality (HP:0002686)2.24005763
77Optic nerve hypoplasia (HP:0000609)2.23614680
78Anophthalmia (HP:0000528)2.21671811
79Bone cyst (HP:0012062)2.20626998
80Joint hemorrhage (HP:0005261)2.19305819
81Increased connective tissue (HP:0009025)2.17771285
82Abolished electroretinogram (ERG) (HP:0000550)2.17604969
83Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.15523195
84Exercise-induced myalgia (HP:0003738)2.14880589
85Hypochromic microcytic anemia (HP:0004840)2.14002797
86Pendular nystagmus (HP:0012043)2.13956793
87Humeroradial synostosis (HP:0003041)2.13366503
88Synostosis involving the elbow (HP:0003938)2.13366503
89Medial flaring of the eyebrow (HP:0010747)2.12075888
90Hyperglycemia (HP:0003074)2.09733113
91Bifid tongue (HP:0010297)2.08849422
92Abnormal eating behavior (HP:0100738)2.08811671
93Male infertility (HP:0003251)2.08628210
94Sclerocornea (HP:0000647)2.07177713
95Intrahepatic cholestasis (HP:0001406)2.06680055
96Skin nodule (HP:0200036)2.06491430
97Concave nail (HP:0001598)2.06483794
98Type II lissencephaly (HP:0007260)2.05787727
99Brushfield spots (HP:0001088)2.05253126
100Abnormal cartilage morphology (HP:0002763)2.03100862
101Central scotoma (HP:0000603)1.98468180
102Generalized aminoaciduria (HP:0002909)1.96599801
103Abnormality of the renal cortex (HP:0011035)1.96318373
104Clitoromegaly (HP:0000057)1.96020762
105Colon cancer (HP:0003003)1.95826046
106Renal cortical cysts (HP:0000803)1.95111911
107Gastrointestinal atresia (HP:0002589)1.94666831
108Deep venous thrombosis (HP:0002625)1.93729604
109Genital tract atresia (HP:0001827)1.92724993
110Methylmalonic acidemia (HP:0002912)1.92564821
111Polycythemia (HP:0001901)1.92548656
112Abnormality of aromatic amino acid family metabolism (HP:0004338)1.92154006
113Lissencephaly (HP:0001339)1.91855364
114Aplasia/Hypoplasia of the tibia (HP:0005772)1.91198726
115Abnormality of the ileum (HP:0001549)1.90772614
116Abnormality of the renal medulla (HP:0100957)1.89023983
117Vaginal atresia (HP:0000148)1.88561584
118Limb hypertonia (HP:0002509)1.88553449
119Accelerated skeletal maturation (HP:0005616)1.88301246
120Drooling (HP:0002307)1.88230389
121Cerebral aneurysm (HP:0004944)1.87873215
122Aplasia/Hypoplasia of the tongue (HP:0010295)1.86515205
123Decreased muscle mass (HP:0003199)1.86462968
124Pancreatic islet-cell hyperplasia (HP:0004510)1.85866038
125Vaginal fistula (HP:0004320)1.84536968
126Abnormality of methionine metabolism (HP:0010901)1.83330169
127Chorioretinal atrophy (HP:0000533)1.83286835
128Abnormality of glycolysis (HP:0004366)1.83222411
129Increased serum pyruvate (HP:0003542)1.83222411
130Hypothermia (HP:0002045)1.82377756
131Tetraparesis (HP:0002273)1.81495287
132Hypobetalipoproteinemia (HP:0003563)1.81203535
133Tubular atrophy (HP:0000092)1.80497208
134Spontaneous abortion (HP:0005268)1.80236118
135Acute encephalopathy (HP:0006846)1.78920437
136Short tibia (HP:0005736)1.78450252
137Prominent supraorbital ridges (HP:0000336)1.78397682
138Enlarged kidneys (HP:0000105)1.77930454
139Vomiting (HP:0002013)1.76904565
140Bifid scrotum (HP:0000048)1.76781551
141Occipital encephalocele (HP:0002085)1.76422575
142Meckel diverticulum (HP:0002245)1.75828136
143Increased corneal curvature (HP:0100692)1.75603503
144Keratoconus (HP:0000563)1.75603503
145Postaxial foot polydactyly (HP:0001830)1.74357881
146Hypercortisolism (HP:0001578)1.73510888
147Preaxial hand polydactyly (HP:0001177)1.73451523
148Abnormality of urine glucose concentration (HP:0011016)1.73242153
149Glycosuria (HP:0003076)1.73242153
150Cerebellar dysplasia (HP:0007033)1.73092128
151Increased IgM level (HP:0003496)1.72192857
152Abnormality of purine metabolism (HP:0004352)1.72124320
153Muscle stiffness (HP:0003552)1.71376623
154Testicular atrophy (HP:0000029)1.71293887
155Abnormality of aspartate family amino acid metabolism (HP:0010899)1.71271071
156Hypophosphatemic rickets (HP:0004912)1.71080997
157Gait imbalance (HP:0002141)1.70477552
158Neonatal hypoglycemia (HP:0001998)1.70317554
159Bony spicule pigmentary retinopathy (HP:0007737)1.70072561
160Congenital primary aphakia (HP:0007707)1.69699504
161Postaxial hand polydactyly (HP:0001162)1.69221620
162Dandy-Walker malformation (HP:0001305)1.69050576
163Supernumerary spleens (HP:0009799)1.68306819
164Polar cataract (HP:0010696)1.68241792
165Methylmalonic aciduria (HP:0012120)1.67966110
166Metabolic acidosis (HP:0001942)1.66645958
167Hypoplastic pelvis (HP:0008839)1.66202896
168Abnormality of the lower motor neuron (HP:0002366)1.65618028
169Inability to walk (HP:0002540)1.65245680
170Hepatoblastoma (HP:0002884)1.63942751
171Male pseudohermaphroditism (HP:0000037)1.63141603
172Anencephaly (HP:0002323)1.63065630
173Labial hypoplasia (HP:0000066)1.62611952
174Abnormality of vision evoked potentials (HP:0000649)1.62528871
175Cystic liver disease (HP:0006706)1.61995004
176Large for gestational age (HP:0001520)1.61919950
177Nephrogenic diabetes insipidus (HP:0009806)1.61699492

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CAMK1D6.03041872
2CAMK1G4.34993201
3MAP3K63.98657989
4BCKDK3.74421054
5SIK13.73963776
6PINK13.29338839
7TRIB33.14724499
8PNCK3.09353669
9ICK2.95172111
10DDR22.91020016
11WNK32.85601243
12PDK42.57313748
13PDK32.57313748
14ADRBK22.49671363
15WNK42.41881220
16BMPR1B2.40231036
17MAP4K22.34634016
18CASK2.26206913
19PRKAA22.19302599
20TRIM282.16898533
21ZAK2.10619690
22TNIK2.06493497
23BCR1.95044100
24NUAK11.89218263
25SRPK11.82267748
26LATS21.74896283
27MARK11.74534838
28CSNK1G21.73931754
29AKT31.71516866
30MAPK151.70841989
31PRKD21.70052962
32TYRO31.66234587
33PDK21.65845804
34RIPK11.64188876
35CSNK1G31.58865376
36INSRR1.57899820
37PRKAA11.56709750
38PDGFRA1.56688343
39PAK31.51657929
40MST1R1.47913173
41CDK61.46753793
42CSNK1A1L1.43396855
43STK38L1.36783930
44PHKG21.35674759
45PHKG11.35674759
46LATS11.34128754
47WEE11.33184246
48TLK11.32888166
49PLK21.32272347
50PLK31.30972452
51MAPK131.29081696
52MKNK21.26260990
53PRKCG1.26002859
54ACVR1B1.25418468
55TSSK61.24890890
56NEK11.21762590
57FGR1.21436262
58VRK11.20774389
59MAP2K71.19804873
60MKNK11.19648450
61DYRK31.19163323
62DAPK11.18911744
63CDC71.11383267
64CSK1.08748057
65STK391.07786188
66EPHA41.05370534
67MAP3K111.03609536
68CDK91.03114983
69PBK0.99251441
70PRKCE0.97792411
71PLK40.97730879
72BMX0.97697075
73MATK0.96250339
74MAPK110.94989228
75ERBB30.94100093
76PRPF4B0.93188311
77GSK3A0.92856950
78TRPM70.92115099
79FLT30.91659505
80STK380.90436709
81ERN10.89058558
82STK160.88035446
83LMTK20.84823037
84NTRK20.83387280
85BRSK20.82626253
86PLK10.81931505
87PRKD30.80674684
88CAMKK20.80572840
89ADRBK10.79003355
90YES10.73762765
91EPHB20.72438718
92PRKACG0.71394160
93NEK20.69018391
94ERBB40.68128374
95MAPKAPK30.67939130
96VRK20.67394193
97MTOR0.66756591
98DYRK1B0.65209709
99FGFR20.65037923
100MAP2K10.64500857
101TAF10.64322696
102MINK10.63069875
103BUB10.61373440
104CSNK1A10.60253969
105DYRK1A0.59389944
106TGFBR10.58785182
107TTK0.58286189
108ERBB20.57445054
109PAK60.57019948
110RPS6KB10.54819884
111NME10.54586691
112FGFR30.54501243
113DAPK20.53975357
114CSNK1E0.53851014
115MAP2K40.53572539
116CDK30.53473022
117TAOK20.53422476
118PDPK10.52994628
119FGFR40.50584347
120IRAK30.50526306
121CAMK2A0.48976077
122JAK20.48885003
123ATR0.48694397
124CSNK1D0.48687670
125OXSR10.48093071
126PIK3CA0.48076883
127EIF2AK30.47824017
128STK30.46856996
129RPS6KA40.46595093
130ATM0.46394388
131LIMK10.46075567
132CAMK10.46041681
133PRKCZ0.44559988
134CHEK20.44129639
135CSNK2A10.40965989
136TNK20.39744678
137NTRK30.39178585
138IRAK20.38407399
139CDC42BPA0.37390896
140PTK2B0.37331516
141PDGFRB0.35703344
142TIE10.34751491
143INSR0.34347175
144FER0.33802155
145PRKD10.33499245
146PDK10.32389579
147PRKCH0.31868609
148FRK0.31692044
149MAP3K90.30356542
150RPS6KA30.30166103
151UHMK10.30077704
152CDK40.29365462
153DYRK20.29262379
154MAPK120.29235607
155FGFR10.28856279
156CSNK1G10.28100195
157MARK20.27929195
158JAK10.27458249
159RPS6KC10.26863109
160RPS6KL10.26863109
161PRKACA0.26734985
162MAPK30.26532284
163MET0.26051416
164MAPK40.24986959
165SGK10.24964935
166EIF2AK20.23795748
167RPS6KA10.21423201
168IGF1R0.21337929
169GRK10.21097394
170MAP3K40.20805478
171AKT10.19688293
172MAPK100.19441283
173ABL10.19288430

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000616.01902390
2Propanoate metabolism_Homo sapiens_hsa006404.23794598
3Fatty acid metabolism_Homo sapiens_hsa012124.05774318
4PPAR signaling pathway_Homo sapiens_hsa033203.74761763
5Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.36011534
6Fatty acid degradation_Homo sapiens_hsa000712.87546473
7Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.73081775
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.70094999
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.63273159
10Pyruvate metabolism_Homo sapiens_hsa006202.45396656
11* Glycerolipid metabolism_Homo sapiens_hsa005612.28168767
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.22838192
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.04707418
14beta-Alanine metabolism_Homo sapiens_hsa004102.03531093
15Fatty acid elongation_Homo sapiens_hsa000621.92597710
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.91236914
17Butanoate metabolism_Homo sapiens_hsa006501.75424834
18Peroxisome_Homo sapiens_hsa041461.68516530
19Vitamin B6 metabolism_Homo sapiens_hsa007501.67839949
20Fat digestion and absorption_Homo sapiens_hsa049751.67385863
21Carbon metabolism_Homo sapiens_hsa012001.66475698
22AMPK signaling pathway_Homo sapiens_hsa041521.63348533
23Nitrogen metabolism_Homo sapiens_hsa009101.59320851
24Arginine biosynthesis_Homo sapiens_hsa002201.41642733
25Adipocytokine signaling pathway_Homo sapiens_hsa049201.37623701
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.32179388
27Tryptophan metabolism_Homo sapiens_hsa003801.30373383
28Primary bile acid biosynthesis_Homo sapiens_hsa001201.30250950
29Selenocompound metabolism_Homo sapiens_hsa004501.25889533
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25397449
31Protein export_Homo sapiens_hsa030601.23409059
32One carbon pool by folate_Homo sapiens_hsa006701.17270566
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.17141669
34Phenylalanine metabolism_Homo sapiens_hsa003601.16506864
35Glycerophospholipid metabolism_Homo sapiens_hsa005641.15383902
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.12103116
37Biosynthesis of amino acids_Homo sapiens_hsa012301.09271951
38Tyrosine metabolism_Homo sapiens_hsa003501.08239597
39Caffeine metabolism_Homo sapiens_hsa002321.06617257
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.03894797
41Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.03746517
42Cyanoamino acid metabolism_Homo sapiens_hsa004601.00312441
43Insulin signaling pathway_Homo sapiens_hsa049100.99632463
44Maturity onset diabetes of the young_Homo sapiens_hsa049500.98105744
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.97999248
46Staphylococcus aureus infection_Homo sapiens_hsa051500.97062745
47Longevity regulating pathway - mammal_Homo sapiens_hsa042110.97059102
48Circadian rhythm_Homo sapiens_hsa047100.94853415
49RNA polymerase_Homo sapiens_hsa030200.92629661
50Oxidative phosphorylation_Homo sapiens_hsa001900.91899281
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.91525077
52ABC transporters_Homo sapiens_hsa020100.90642033
53Ether lipid metabolism_Homo sapiens_hsa005650.84121190
54Complement and coagulation cascades_Homo sapiens_hsa046100.82167469
55Pentose phosphate pathway_Homo sapiens_hsa000300.81439046
56Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.80210098
57Glucagon signaling pathway_Homo sapiens_hsa049220.78775473
58Insulin resistance_Homo sapiens_hsa049310.78640482
59Lysine degradation_Homo sapiens_hsa003100.78290984
60Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77108491
61Phototransduction_Homo sapiens_hsa047440.76939740
62Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.76068207
63Starch and sucrose metabolism_Homo sapiens_hsa005000.74735783
64Fructose and mannose metabolism_Homo sapiens_hsa000510.73790252
65Parkinsons disease_Homo sapiens_hsa050120.71786927
66Fanconi anemia pathway_Homo sapiens_hsa034600.69066114
67Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.68724130
68Retinol metabolism_Homo sapiens_hsa008300.67568050
69mTOR signaling pathway_Homo sapiens_hsa041500.66084194
70Chemical carcinogenesis_Homo sapiens_hsa052040.65490443
71Basal transcription factors_Homo sapiens_hsa030220.64954624
72Nicotine addiction_Homo sapiens_hsa050330.64013136
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63330902
74Linoleic acid metabolism_Homo sapiens_hsa005910.62727370
75Proteasome_Homo sapiens_hsa030500.60016448
76Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56791072
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.54079316
78Sulfur relay system_Homo sapiens_hsa041220.53423847
79Folate biosynthesis_Homo sapiens_hsa007900.52691813
80Homologous recombination_Homo sapiens_hsa034400.51426370
81Huntingtons disease_Homo sapiens_hsa050160.51368598
82Arginine and proline metabolism_Homo sapiens_hsa003300.50631692
83Non-homologous end-joining_Homo sapiens_hsa034500.50418369
84Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.49165347
85Drug metabolism - other enzymes_Homo sapiens_hsa009830.45092616
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44575765
87Histidine metabolism_Homo sapiens_hsa003400.43599602
88Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.43555871
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.42186458
90Basal cell carcinoma_Homo sapiens_hsa052170.41191399
91Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.40767947
92Nucleotide excision repair_Homo sapiens_hsa034200.39807305
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38847926
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36867129
95Renin secretion_Homo sapiens_hsa049240.35734440
96Central carbon metabolism in cancer_Homo sapiens_hsa052300.35490405
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.35472519
98Bile secretion_Homo sapiens_hsa049760.35285863
99* Metabolic pathways_Homo sapiens_hsa011000.34759522
100Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.34069740
101Steroid biosynthesis_Homo sapiens_hsa001000.33859178
102RNA degradation_Homo sapiens_hsa030180.32634057
103Type II diabetes mellitus_Homo sapiens_hsa049300.32234662
104Arachidonic acid metabolism_Homo sapiens_hsa005900.31388088
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29078367
106Mismatch repair_Homo sapiens_hsa034300.27567824
107Pyrimidine metabolism_Homo sapiens_hsa002400.27438657
108Cysteine and methionine metabolism_Homo sapiens_hsa002700.25514152
109Glutathione metabolism_Homo sapiens_hsa004800.25459317
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24409318
111Ovarian steroidogenesis_Homo sapiens_hsa049130.24280444
112Cardiac muscle contraction_Homo sapiens_hsa042600.24178615
113Alzheimers disease_Homo sapiens_hsa050100.23792143
114Vitamin digestion and absorption_Homo sapiens_hsa049770.22669455
115Axon guidance_Homo sapiens_hsa043600.22471557
116Sulfur metabolism_Homo sapiens_hsa009200.15953334
117Galactose metabolism_Homo sapiens_hsa000520.12374360
118Choline metabolism in cancer_Homo sapiens_hsa052310.11200803
119Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.10495434
120Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.06616047
121cAMP signaling pathway_Homo sapiens_hsa040240.02834075
122Salivary secretion_Homo sapiens_hsa049700.02179300
123Adherens junction_Homo sapiens_hsa045200.01498757
124HIF-1 signaling pathway_Homo sapiens_hsa040660.01091502
125GABAergic synapse_Homo sapiens_hsa047270.00572463
126Retrograde endocannabinoid signaling_Homo sapiens_hsa04723-0.0598130
127ECM-receptor interaction_Homo sapiens_hsa04512-0.0523703
128VEGF signaling pathway_Homo sapiens_hsa04370-0.0429960
129Notch signaling pathway_Homo sapiens_hsa04330-0.0417480
130Acute myeloid leukemia_Homo sapiens_hsa05221-0.0277965
131Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.0266801
132Protein digestion and absorption_Homo sapiens_hsa04974-0.0072202
133Hippo signaling pathway_Homo sapiens_hsa04390-0.0028752

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