PNPLA5

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: This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. 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
1triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.45904921
2L-phenylalanine metabolic process (GO:0006558)6.27893849
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.27893849
4alpha-linolenic acid metabolic process (GO:0036109)6.15924854
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.12351882
6L-phenylalanine catabolic process (GO:0006559)6.12351882
7keratinization (GO:0031424)5.68955346
8hair cycle (GO:0042633)5.60112115
9molting cycle (GO:0042303)5.60112115
10phospholipid efflux (GO:0033700)5.55511445
11sulfur amino acid catabolic process (GO:0000098)5.43450413
12high-density lipoprotein particle remodeling (GO:0034375)5.41337281
13aromatic amino acid family catabolic process (GO:0009074)5.27989776
14regulation of cholesterol esterification (GO:0010872)5.22772183
15response to pheromone (GO:0019236)5.00385021
16proline biosynthetic process (GO:0006561)4.89538701
17triglyceride homeostasis (GO:0070328)4.83597087
18acylglycerol homeostasis (GO:0055090)4.83597087
19protein carboxylation (GO:0018214)4.80514040
20peptidyl-glutamic acid carboxylation (GO:0017187)4.80514040
21urea cycle (GO:0000050)4.73109905
22urea metabolic process (GO:0019627)4.73109905
23glyoxylate metabolic process (GO:0046487)4.73066503
24reverse cholesterol transport (GO:0043691)4.69263546
25regulation of triglyceride catabolic process (GO:0010896)4.69254483
26DNA deamination (GO:0045006)4.67443669
27linoleic acid metabolic process (GO:0043651)4.67405914
28cholesterol efflux (GO:0033344)4.66808001
29centriole replication (GO:0007099)4.64832269
30very-low-density lipoprotein particle assembly (GO:0034379)4.59752797
31negative regulation of fatty acid biosynthetic process (GO:0045717)4.58806655
32kynurenine metabolic process (GO:0070189)4.57659722
33negative regulation of sterol transport (GO:0032372)4.56660475
34negative regulation of cholesterol transport (GO:0032375)4.56660475
35protein K11-linked deubiquitination (GO:0035871)4.56426399
36tryptophan catabolic process (GO:0006569)4.52197001
37indole-containing compound catabolic process (GO:0042436)4.52197001
38indolalkylamine catabolic process (GO:0046218)4.52197001
39protein-lipid complex remodeling (GO:0034368)4.47975828
40macromolecular complex remodeling (GO:0034367)4.47975828
41plasma lipoprotein particle remodeling (GO:0034369)4.47975828
42bile acid biosynthetic process (GO:0006699)4.47555870
43proline metabolic process (GO:0006560)4.47313863
44plasma lipoprotein particle assembly (GO:0034377)4.45158273
45negative regulation of fibrinolysis (GO:0051918)4.42178591
46bile acid metabolic process (GO:0008206)4.39272222
47plasma lipoprotein particle clearance (GO:0034381)4.36046373
48nitrogen cycle metabolic process (GO:0071941)4.35818532
49serine family amino acid catabolic process (GO:0009071)4.28361375
50fatty-acyl-CoA biosynthetic process (GO:0046949)4.24798764
51tryptophan metabolic process (GO:0006568)4.20976297
52fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.16466508
53fibrinolysis (GO:0042730)4.13999165
54fatty acid elongation (GO:0030497)4.12218900
55cellular ketone body metabolic process (GO:0046950)4.11731356
56regulation of fibrinolysis (GO:0051917)4.07422778
57detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.03995204
58DNA double-strand break processing (GO:0000729)4.03665573
59protein-lipid complex assembly (GO:0065005)4.03577606
60positive regulation of lipid catabolic process (GO:0050996)3.97404620
61cysteine metabolic process (GO:0006534)3.97180572
62very long-chain fatty acid metabolic process (GO:0000038)3.95295045
63positive regulation of triglyceride lipase activity (GO:0061365)3.92214390
64positive regulation of lipoprotein lipase activity (GO:0051006)3.92214390
65regulation of cholesterol homeostasis (GO:2000188)3.90439387
66acetyl-CoA metabolic process (GO:0006084)3.87688868
67aromatic amino acid family metabolic process (GO:0009072)3.85956814
68establishment of skin barrier (GO:0061436)3.84933520
69bile acid and bile salt transport (GO:0015721)3.83361179
70amino-acid betaine metabolic process (GO:0006577)3.82573834
71thioester biosynthetic process (GO:0035384)3.80912935
72acyl-CoA biosynthetic process (GO:0071616)3.80912935
73phospholipid homeostasis (GO:0055091)3.80755570
74negative regulation of lipase activity (GO:0060192)3.77128272
75glutamine family amino acid biosynthetic process (GO:0009084)3.75709484
76desmosome organization (GO:0002934)3.75187779
77tyrosine metabolic process (GO:0006570)3.72480280
78long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.65246008
79plasma lipoprotein particle organization (GO:0071827)3.65046004
80ethanol oxidation (GO:0006069)3.63722525
81drug catabolic process (GO:0042737)3.63086571
82alpha-amino acid catabolic process (GO:1901606)3.62310773
83intestinal cholesterol absorption (GO:0030299)3.62017946
84cholesterol homeostasis (GO:0042632)3.61365154
85fatty-acyl-CoA metabolic process (GO:0035337)3.61090268
86protein-cofactor linkage (GO:0018065)3.59839209
87positive regulation of fatty acid beta-oxidation (GO:0032000)3.58136637
88alkaloid metabolic process (GO:0009820)3.55609647
89sterol homeostasis (GO:0055092)3.55179459
90low-density lipoprotein particle remodeling (GO:0034374)3.54176703
91regulation of meiosis I (GO:0060631)3.52991479
92regulation of protein activation cascade (GO:2000257)3.52370302
93ketone body metabolic process (GO:1902224)3.51603654
94lipoprotein metabolic process (GO:0042157)3.51094765
95pyridine nucleotide biosynthetic process (GO:0019363)3.46111485
96nicotinamide nucleotide biosynthetic process (GO:0019359)3.46111485
97protein-lipid complex subunit organization (GO:0071825)3.46070925
98keratinocyte development (GO:0003334)3.44586480
99lysine metabolic process (GO:0006553)3.44402359
100lysine catabolic process (GO:0006554)3.44402359
101negative regulation of fatty acid metabolic process (GO:0045922)3.43002767
102cellular amino acid catabolic process (GO:0009063)3.42351865
103fatty acid transmembrane transport (GO:1902001)3.39372395
104fatty acid beta-oxidation (GO:0006635)3.36254098
105imidazole-containing compound metabolic process (GO:0052803)3.35871900
106glycine metabolic process (GO:0006544)3.33059288
107short-chain fatty acid metabolic process (GO:0046459)3.32032194
108complement activation, alternative pathway (GO:0006957)3.31037395
109regulation of water loss via skin (GO:0033561)3.30109193
110platelet dense granule organization (GO:0060155)3.20966411
111respiratory chain complex IV assembly (GO:0008535)3.18625863
112atrial cardiac muscle cell action potential (GO:0086014)3.09416798
113peptidyl-histidine modification (GO:0018202)3.04733742
114cytochrome complex assembly (GO:0017004)3.04402956
115replication fork processing (GO:0031297)3.01515125
116adaptation of signaling pathway (GO:0023058)3.00806428
117detection of light stimulus involved in visual perception (GO:0050908)2.99991336
118detection of light stimulus involved in sensory perception (GO:0050962)2.99991336
119retinal cone cell development (GO:0046549)2.99081664
120piRNA metabolic process (GO:0034587)2.98429495
121cornea development in camera-type eye (GO:0061303)2.96686364
122centriole assembly (GO:0098534)2.95591740
123kidney morphogenesis (GO:0060993)2.94676678
124indolalkylamine metabolic process (GO:0006586)2.92924696
125behavioral response to nicotine (GO:0035095)2.89324213
126pseudouridine synthesis (GO:0001522)2.80774833
127regulation of neurotransmitter uptake (GO:0051580)2.80308889
128meiotic chromosome segregation (GO:0045132)2.78552794
129fucose catabolic process (GO:0019317)2.77920914
130L-fucose metabolic process (GO:0042354)2.77920914
131L-fucose catabolic process (GO:0042355)2.77920914
132negative regulation of transcription regulatory region DNA binding (GO:2000678)2.77569480
133mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.76692394
134male meiosis (GO:0007140)2.76638573
135L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.74750565
136water-soluble vitamin biosynthetic process (GO:0042364)2.73917999
137single strand break repair (GO:0000012)2.69823021
138somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.67589402
139isotype switching (GO:0045190)2.67589402
140somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.67589402
141protein neddylation (GO:0045116)2.67247710
142axoneme assembly (GO:0035082)2.66789016
143inositol phosphate catabolic process (GO:0071545)2.66613274
144phosphatidylinositol acyl-chain remodeling (GO:0036149)2.66355074
145thyroid hormone metabolic process (GO:0042403)2.66159804
146amine catabolic process (GO:0009310)2.64292864
147cellular biogenic amine catabolic process (GO:0042402)2.64292864
148serotonin receptor signaling pathway (GO:0007210)2.64229879
149G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.63438549
150photoreceptor cell maintenance (GO:0045494)2.63126827
151reflex (GO:0060004)2.62822313
152regulation of rhodopsin mediated signaling pathway (GO:0022400)2.61394397
153base-excision repair, AP site formation (GO:0006285)2.61354689
154signal peptide processing (GO:0006465)2.61339987
155L-methionine salvage (GO:0071267)2.60999296
156L-methionine biosynthetic process (GO:0071265)2.60999296
157amino acid salvage (GO:0043102)2.60999296
158protein complex biogenesis (GO:0070271)2.58260139
159DNA methylation involved in gamete generation (GO:0043046)2.57818163
160somatic diversification of immunoglobulins (GO:0016445)2.57274149
161rhodopsin mediated signaling pathway (GO:0016056)2.57022866
162limb bud formation (GO:0060174)2.56597966
163S-adenosylmethionine metabolic process (GO:0046500)2.55226187
164polyol catabolic process (GO:0046174)2.54171877
165methionine biosynthetic process (GO:0009086)2.54114327
166nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.52043053
167C4-dicarboxylate transport (GO:0015740)2.49483484
168male meiosis I (GO:0007141)2.48211162
169proteasome assembly (GO:0043248)2.48105332
170prostate gland growth (GO:0060736)2.44659493
171histone mRNA catabolic process (GO:0071044)2.43909447
172reciprocal DNA recombination (GO:0035825)2.43311021
173reciprocal meiotic recombination (GO:0007131)2.43311021
174exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.42960072
175magnesium ion transport (GO:0015693)2.42759812
176regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.40789556
177regulation of cilium movement (GO:0003352)2.40413445
178recombinational repair (GO:0000725)2.39963354
179mitochondrial respiratory chain complex assembly (GO:0033108)2.39739519
180auditory receptor cell stereocilium organization (GO:0060088)2.37415715
181regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.36751388
182neuron cell-cell adhesion (GO:0007158)2.36390320
183double-strand break repair via homologous recombination (GO:0000724)2.35466603
184cilium morphogenesis (GO:0060271)2.35032476
185neural tube formation (GO:0001841)2.34710734
186regulation of hexokinase activity (GO:1903299)2.33772942
187regulation of glucokinase activity (GO:0033131)2.33772942
188nonmotile primary cilium assembly (GO:0035058)2.32867250
189regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.32506282
190methionine metabolic process (GO:0006555)2.31077030
191regulation of nuclear cell cycle DNA replication (GO:0033262)2.30600349

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.21806391
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.56219988
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.61924053
4TP63_17297297_ChIP-ChIP_HaCaT_Human5.61896478
5LXR_22158963_ChIP-Seq_LIVER_Mouse5.01480140
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.54168637
7EGR1_23403033_ChIP-Seq_LIVER_Mouse4.38672731
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.07114088
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.45240705
10ZNF274_21170338_ChIP-Seq_K562_Hela3.40943144
11* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.11454040
12IGF1R_20145208_ChIP-Seq_DFB_Human2.76973899
13VDR_22108803_ChIP-Seq_LS180_Human2.75564163
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.74490751
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.72688234
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.61177193
17GBX2_23144817_ChIP-Seq_PC3_Human2.60793861
18SALL1_21062744_ChIP-ChIP_HESCs_Human2.59635854
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.46940683
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.38401473
21MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.36301985
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.31293512
23EWS_26573619_Chip-Seq_HEK293_Human2.29318075
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.23743577
25FLI1_27457419_Chip-Seq_LIVER_Mouse2.23284393
26P300_19829295_ChIP-Seq_ESCs_Human2.18757962
27TAF15_26573619_Chip-Seq_HEK293_Human2.16459264
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.12384645
29KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.08722804
30CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.07048421
31HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.01686865
32FUS_26573619_Chip-Seq_HEK293_Human1.91836637
33ER_23166858_ChIP-Seq_MCF-7_Human1.91454370
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82871013
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.81409600
36PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81323706
37TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.80803478
38TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.80323679
39* LXR_22292898_ChIP-Seq_THP-1_Human1.80182747
40ZNF263_19887448_ChIP-Seq_K562_Human1.70677954
41NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.67332215
42MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.64249517
43CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.64071657
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63098980
45P63_26484246_Chip-Seq_KERATINOCYTES_Human1.61299865
46PCGF2_27294783_Chip-Seq_NPCs_Mouse1.61193683
47RXRA_24833708_ChIP-Seq_LIVER_Mouse1.60638472
48BCAT_22108803_ChIP-Seq_LS180_Human1.60344052
49AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.58759852
50GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.58559981
51KLF5_20875108_ChIP-Seq_MESCs_Mouse1.58073531
52TP53_22573176_ChIP-Seq_HFKS_Human1.57334234
53CBP_20019798_ChIP-Seq_JUKART_Human1.57205503
54IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.57205503
55GABP_17652178_ChIP-ChIP_JURKAT_Human1.56599345
56HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.56521770
57EST1_17652178_ChIP-ChIP_JURKAT_Human1.52694963
58FOXA1_27270436_Chip-Seq_PROSTATE_Human1.51560248
59FOXA1_25329375_ChIP-Seq_VCAP_Human1.51560248
60* NANOG_19829295_ChIP-Seq_ESCs_Human1.51432593
61* SOX2_19829295_ChIP-Seq_ESCs_Human1.51432593
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.50933242
63TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.50360277
64MYC_18940864_ChIP-ChIP_HL60_Human1.49833295
65ERG_21242973_ChIP-ChIP_JURKAT_Human1.46799963
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.46348253
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.45446011
68SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44423415
69SUZ12_27294783_Chip-Seq_NPCs_Mouse1.44347937
70FOXA1_21572438_ChIP-Seq_LNCaP_Human1.42930896
71RACK7_27058665_Chip-Seq_MCF-7_Human1.42822159
72ELK1_19687146_ChIP-ChIP_HELA_Human1.42500726
73AR_25329375_ChIP-Seq_VCAP_Human1.40825213
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40165105
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39899804
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39773006
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.39773006
78STAT3_23295773_ChIP-Seq_U87_Human1.39211087
79NFE2_27457419_Chip-Seq_LIVER_Mouse1.38466406
80TCF4_23295773_ChIP-Seq_U87_Human1.37403710
81PIAS1_25552417_ChIP-Seq_VCAP_Human1.37174759
82TCF4_22108803_ChIP-Seq_LS180_Human1.36875756
83EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.35852534
84IRF1_19129219_ChIP-ChIP_H3396_Human1.35080407
85AR_20517297_ChIP-Seq_VCAP_Human1.34753896
86ESR2_21235772_ChIP-Seq_MCF-7_Human1.34305550
87SMAD4_21799915_ChIP-Seq_A2780_Human1.33953414
88STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.32571841
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31899208
90CLOCK_20551151_ChIP-Seq_293T_Human1.31812883
91PHF8_20622853_ChIP-Seq_HELA_Human1.30634092
92NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.29997869
93NCOR_22424771_ChIP-Seq_293T_Human1.29024774
94POU5F1_16153702_ChIP-ChIP_HESCs_Human1.28238207
95ETV1_20927104_ChIP-Seq_GIST48_Human1.26861521
96SMAD4_21741376_ChIP-Seq_EPCs_Human1.26285601
97* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.25743630
98TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25718940
99CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23391423
100RBPJ_21746931_ChIP-Seq_IB4_Human1.22635428
101THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21429747
102SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20513379
103PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.19953529
104SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19053349
105CDX2_22108803_ChIP-Seq_LS180_Human1.18467731
106OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17569562
107PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.17381009
108CRX_20693478_ChIP-Seq_RETINA_Mouse1.16693760
109NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.16054291
110NOTCH1_21737748_ChIP-Seq_TLL_Human1.15471407
111HOXB7_26014856_ChIP-Seq_BT474_Human1.15331461
112* CTCF_27219007_Chip-Seq_Bcells_Human1.14342454
113NFYB_21822215_ChIP-Seq_K562_Human1.13768185
114BCOR_27268052_Chip-Seq_Bcells_Human1.13670200
115TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13405253
116RUNX2_22187159_ChIP-Seq_PCA_Human1.13350116
117SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11716356
118NANOG_18555785_Chip-Seq_ESCs_Mouse1.11025342
119TBL1_22424771_ChIP-Seq_293T_Human1.10399661
120RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09598111
121FLI1_21867929_ChIP-Seq_TH2_Mouse1.09087264
122HNFA_21074721_ChIP-Seq_CACO-2_Human1.08889352
123NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.08760250
124GATA6_21074721_ChIP-Seq_CACO-2_Human1.08680346
125SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.08572133
126AUTS2_25519132_ChIP-Seq_293T-REX_Human1.08275679
127GATA3_21878914_ChIP-Seq_MCF-7_Human1.07990754
128CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.07559069
129E2F1_20622854_ChIP-Seq_HELA_Human1.07455756
130VDR_23849224_ChIP-Seq_CD4+_Human1.07285915
131FOXA2_19822575_ChIP-Seq_HepG2_Human1.07075750
132ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06571746
133TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06551104
134SOX2_27498859_Chip-Seq_STOMACH_Mouse1.06161773
135CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.04213761
136ESR1_21235772_ChIP-Seq_MCF-7_Human1.03318987
137CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.02784710
138POU5F1_16518401_ChIP-PET_MESCs_Mouse1.01135060
139RARB_24833708_ChIP-Seq_LIVER_Mouse1.00991234
140RARG_19884340_ChIP-ChIP_MEFs_Mouse0.99872999
141BCL6_27268052_Chip-Seq_Bcells_Human0.99624601
142ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99519000
143* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.97255538
144SA1_27219007_Chip-Seq_ERYTHROID_Human0.96608151
145SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.95870920
146RARA_24833708_ChIP-Seq_LIVER_Mouse0.95585821
147STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95368138
148HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.94425893
149CSB_26484114_Chip-Seq_FIBROBLAST_Human0.94276052
150ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.94074034
151HNF4A_19822575_ChIP-Seq_HepG2_Human0.92675896
152SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.92604391
153ESR1_15608294_ChIP-ChIP_MCF-7_Human0.92075146
154TP63_22573176_ChIP-Seq_HFKS_Human0.91401277
155KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.90831493
156CDX2_20551321_ChIP-Seq_CACO-2_Human0.90823849
157ATF3_27146783_Chip-Seq_COLON_Human0.90088618
158ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.89307486
159SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87496324
160NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.86405447
161CTCF_21964334_ChIP-Seq_BJAB-B_Human0.86393920
162TCF3_18692474_ChIP-Seq_MEFs_Mouse0.84418530
163P68_20966046_ChIP-Seq_HELA_Human0.84343925
164KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.83733443
165KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.83733443
166KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.83733443
167TCF3_18692474_ChIP-Seq_MESCs_Mouse0.83179403
168TET1_21451524_ChIP-Seq_MESCs_Mouse0.82822770
169RAD21_21589869_ChIP-Seq_MESCs_Mouse0.82413258
170RAC3_21632823_ChIP-Seq_H3396_Human0.82016326
171SOX9_24532713_ChIP-Seq_HFSC_Mouse0.81555778
172UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.81049121
173KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.81048863
174KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.80832427
175P300_27058665_Chip-Seq_ZR-75-30cells_Human0.79817125
176GATA4_25053715_ChIP-Seq_YYC3_Human0.79619957
177PHF8_20622854_ChIP-Seq_HELA_Human0.79196605
178PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79168697
179BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.79167396
180* PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79052945
181SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78931387
182HTT_18923047_ChIP-ChIP_STHdh_Human0.78921605
183POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.77966777
184P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.77901326
185STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.76846999
186SPI1_20517297_ChIP-Seq_HL60_Human0.76707528
187EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.75962197
188IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.75629221
189VDR_21846776_ChIP-Seq_THP-1_Human0.75530217
190SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74639039
191SPI1_26923725_Chip-Seq_HPCs_Mouse0.74529175
192YY1_22570637_ChIP-Seq_MALME-3M_Human0.73791171
193TP53_20018659_ChIP-ChIP_R1E_Mouse0.73702349
194TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.73508317
195MYC_27129775_Chip-Seq_CORNEA_Mouse0.72803820
196SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.72075152
197GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.71410421

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.91554383
2MP0005085_abnormal_gallbladder_physiolo5.32534442
3MP0005360_urolithiasis5.31354632
4MP0005365_abnormal_bile_salt5.29598986
5MP0000579_abnormal_nail_morphology4.61319723
6MP0002796_impaired_skin_barrier4.60941527
7MP0000569_abnormal_digit_pigmentation3.79138535
8MP0009840_abnormal_foam_cell3.61810124
9MP0008875_abnormal_xenobiotic_pharmacok3.53563388
10MP0003806_abnormal_nucleotide_metabolis3.18143826
11MP0005275_abnormal_skin_tensile3.15953406
12MP0010329_abnormal_lipoprotein_level2.98612491
13MP0003252_abnormal_bile_duct2.94889189
14MP0003191_abnormal_cellular_cholesterol2.89822865
15MP0003705_abnormal_hypodermis_morpholog2.79125119
16MP0005501_abnormal_skin_physiology2.65380644
17MP0002837_dystrophic_cardiac_calcinosis2.56571003
18MP0008877_abnormal_DNA_methylation2.53502522
19MP0005083_abnormal_biliary_tract2.49958157
20MP0005551_abnormal_eye_electrophysiolog2.47671375
21MP0008058_abnormal_DNA_repair2.43193375
22MP0005377_hearing/vestibular/ear_phenot2.42118160
23MP0003878_abnormal_ear_physiology2.42118160
24MP0005451_abnormal_body_composition2.39024213
25MP0002102_abnormal_ear_morphology2.28162401
26MP0005174_abnormal_tail_pigmentation2.13805632
27MP0003453_abnormal_keratinocyte_physiol2.09512919
28MP0001984_abnormal_olfaction2.06251648
29MP0004019_abnormal_vitamin_homeostasis2.05454124
30MP0002060_abnormal_skin_morphology2.03436804
31MP0001485_abnormal_pinna_reflex2.02819725
32MP0004043_abnormal_pH_regulation1.98322806
33MP0006072_abnormal_retinal_apoptosis1.97760428
34MP0005332_abnormal_amino_acid1.88196018
35MP0002118_abnormal_lipid_homeostasis1.82798397
36MP0002254_reproductive_system_inflammat1.80755247
37MP0001666_abnormal_nutrient_absorption1.77338849
38MP0000609_abnormal_liver_physiology1.75650635
39MP0005253_abnormal_eye_physiology1.74415430
40MP0004885_abnormal_endolymph1.73941392
41MP0002095_abnormal_skin_pigmentation1.73866280
42MP0000467_abnormal_esophagus_morphology1.71745460
43MP0000015_abnormal_ear_pigmentation1.70653042
44MP0000647_abnormal_sebaceous_gland1.61993517
45MP0005646_abnormal_pituitary_gland1.61297170
46MP0008872_abnormal_physiological_respon1.60569805
47MP0002876_abnormal_thyroid_physiology1.56834103
48MP0004133_heterotaxia1.55650659
49MP0006292_abnormal_olfactory_placode1.53123014
50MP0001216_abnormal_epidermal_layer1.52007150
51MP0010234_abnormal_vibrissa_follicle1.48891647
52MP0000372_irregular_coat_pigmentation1.47789780
53MP0003646_muscle_fatigue1.47064476
54MP0006035_abnormal_mitochondrial_morpho1.45639752
55MP0003787_abnormal_imprinting1.44558756
56MP0010771_integument_phenotype1.42149309
57MP0004947_skin_inflammation1.38428755
58MP0003880_abnormal_central_pattern1.36825704
59MP0002098_abnormal_vibrissa_morphology1.35225751
60MP0009046_muscle_twitch1.33269189
61MP0003195_calcinosis1.32790765
62MP0005319_abnormal_enzyme/_coenzyme1.31635999
63MP0002163_abnormal_gland_morphology1.30049055
64MP0003136_yellow_coat_color1.29956986
65MP0001501_abnormal_sleep_pattern1.28648431
66MP0004147_increased_porphyrin_level1.26410461
67MP0003786_premature_aging1.25740835
68MP0005645_abnormal_hypothalamus_physiol1.24110955
69MP0002638_abnormal_pupillary_reflex1.22161175
70MP0000631_abnormal_neuroendocrine_gland1.22091168
71MP0002653_abnormal_ependyma_morphology1.21597780
72MP0004381_abnormal_hair_follicle1.18751562
73MP0002938_white_spotting1.18617050
74MP0002736_abnormal_nociception_after1.18413780
75MP0000427_abnormal_hair_cycle1.18132239
76MP0003567_abnormal_fetal_cardiomyocyte1.16788451
77MP0000377_abnormal_hair_follicle1.16610527
78MP0003011_delayed_dark_adaptation1.15889232
79MP0008057_abnormal_DNA_replication1.15235491
80MP0004185_abnormal_adipocyte_glucose1.14716370
81MP0001243_abnormal_dermal_layer1.13857851
82MP0001486_abnormal_startle_reflex1.13204536
83MP0004742_abnormal_vestibular_system1.12607612
84MP0002090_abnormal_vision1.11469081
85MP0009053_abnormal_anal_canal1.09207290
86MP0005379_endocrine/exocrine_gland_phen1.06529666
87MP0008789_abnormal_olfactory_epithelium1.05034966
88MP0010030_abnormal_orbit_morphology1.02709136
89MP0009931_abnormal_skin_appearance1.00287073
90MP0005367_renal/urinary_system_phenotyp1.00281820
91MP0000516_abnormal_urinary_system1.00281820
92MP0002249_abnormal_larynx_morphology1.00260163
93MP0000383_abnormal_hair_follicle0.99781034
94MP0001529_abnormal_vocalization0.99352682
95MP0002138_abnormal_hepatobiliary_system0.98311766
96MP0000367_abnormal_coat/_hair0.98079715
97MP0001968_abnormal_touch/_nociception0.97669922
98MP0001929_abnormal_gametogenesis0.96036952
99MP0010094_abnormal_chromosome_stability0.95823174
100MP0002282_abnormal_trachea_morphology0.95582825
101MP0000762_abnormal_tongue_morphology0.94551961
102MP0002272_abnormal_nervous_system0.93427743
103MP0003718_maternal_effect0.93405851
104MP0002234_abnormal_pharynx_morphology0.93103762
105MP0002971_abnormal_brown_adipose0.93060875
106MP0009278_abnormal_bone_marrow0.90450878
107MP0003698_abnormal_male_reproductive0.90283835
108MP0001919_abnormal_reproductive_system0.89872883
109MP0009745_abnormal_behavioral_response0.89343702
110MP0005584_abnormal_enzyme/coenzyme_acti0.86510932
111MP0010678_abnormal_skin_adnexa0.86141763
112MP0003656_abnormal_erythrocyte_physiolo0.86061837
113MP0005389_reproductive_system_phenotype0.86035813
114MP0005410_abnormal_fertilization0.85854670
115MP0006276_abnormal_autonomic_nervous0.85661414
116MP0008961_abnormal_basal_metabolism0.85391523
117MP0005647_abnormal_sex_gland0.84584033
118MP0003137_abnormal_impulse_conducting0.83900169
119MP0004142_abnormal_muscle_tone0.82242683
120MP0000604_amyloidosis0.81990169
121MP0005084_abnormal_gallbladder_morpholo0.81422160
122MP0000598_abnormal_liver_morphology0.80983460
123MP0005187_abnormal_penis_morphology0.79575796
124MP0003937_abnormal_limbs/digits/tail_de0.79386717
125MP0006054_spinal_hemorrhage0.79049129
126MP0004130_abnormal_muscle_cell0.78636452
127MP0004215_abnormal_myocardial_fiber0.78409848
128MP0005195_abnormal_posterior_eye0.77086992
129MP0002160_abnormal_reproductive_system0.75230602
130MP0001905_abnormal_dopamine_level0.74801550
131MP0001764_abnormal_homeostasis0.74602006
132MP0000653_abnormal_sex_gland0.74533585
133MP0001293_anophthalmia0.74199611
134MP0002557_abnormal_social/conspecific_i0.73908519
135MP0002210_abnormal_sex_determination0.73862679
136MP0001340_abnormal_eyelid_morphology0.71205860
137MP0005395_other_phenotype0.70981731
138MP0005334_abnormal_fat_pad0.68811904
139MP0003566_abnormal_cell_adhesion0.67683935
140MP0003868_abnormal_feces_composition0.66670116
141MP0000639_abnormal_adrenal_gland0.62071473
142MP0003186_abnormal_redox_activity0.61211317
143MP0004782_abnormal_surfactant_physiolog0.59730746
144MP0001191_abnormal_skin_condition0.59727613
145MP0008438_abnormal_cutaneous_collagen0.57750499
146MP0005248_abnormal_Harderian_gland0.57595521
147MP0002269_muscular_atrophy0.57464330
148MP0005023_abnormal_wound_healing0.56808051
149MP0005666_abnormal_adipose_tissue0.56778222
150MP0008995_early_reproductive_senescence0.56417381
151MP0009115_abnormal_fat_cell0.55726704
152MP0002970_abnormal_white_adipose0.55095328
153MP0009763_increased_sensitivity_to0.54606831
154MP0009764_decreased_sensitivity_to0.53113937
155MP0002009_preneoplasia0.52527718
156MP0009643_abnormal_urine_homeostasis0.52314156
157MP0006036_abnormal_mitochondrial_physio0.52045624
158MP0003075_altered_response_to0.51522100
159MP0005448_abnormal_energy_balance0.50971692
160MP0005171_absent_coat_pigmentation0.50352015
161MP0004264_abnormal_extraembryonic_tissu0.49162735
162MP0009642_abnormal_blood_homeostasis0.48960615
163MP0009697_abnormal_copulation0.45727909
164MP0005075_abnormal_melanosome_morpholog0.45701203
165MP0005670_abnormal_white_adipose0.45185473
166MP0005266_abnormal_metabolism0.44463642
167MP0003699_abnormal_female_reproductive0.44107226
168MP0003329_amyloid_beta_deposits0.44013718
169MP0002078_abnormal_glucose_homeostasis0.43725240
170MP0005376_homeostasis/metabolism_phenot0.42626785
171MP0003941_abnormal_skin_development0.41738583
172MP0003890_abnormal_embryonic-extraembry0.41635551
173MP0005058_abnormal_lysosome_morphology0.40713463
174MP0002168_other_aberrant_phenotype0.40506467
175MP0010368_abnormal_lymphatic_system0.37496018

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.35563324
2Abnormality of aromatic amino acid family metabolism (HP:0004338)5.89488632
3Hypobetalipoproteinemia (HP:0003563)5.82612833
4Alopecia of scalp (HP:0002293)5.74308215
5Intrahepatic cholestasis (HP:0001406)5.61859548
6Abnormality of nail color (HP:0100643)5.46692363
7Abnormality of monocarboxylic acid metabolism (HP:0010996)5.13872708
8Xanthomatosis (HP:0000991)5.07806344
9Hypotrichosis (HP:0001006)5.02945411
10Palmoplantar hyperkeratosis (HP:0000972)4.66720921
11Hyperlipoproteinemia (HP:0010980)4.56720681
12Prolonged partial thromboplastin time (HP:0003645)4.40367585
13Hypolipoproteinemia (HP:0010981)4.35519124
14Palmar hyperkeratosis (HP:0010765)4.35201417
15Pancreatic fibrosis (HP:0100732)4.15065140
16Pancreatic cysts (HP:0001737)4.15032664
17Plantar hyperkeratosis (HP:0007556)4.10033378
18True hermaphroditism (HP:0010459)4.01071515
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.87948257
20Thick nail (HP:0001805)3.82330845
21Hypoalphalipoproteinemia (HP:0003233)3.78184400
22Increased IgE level (HP:0003212)3.71147447
23Joint hemorrhage (HP:0005261)3.68889792
24Epidermoid cyst (HP:0200040)3.64010974
25Hyperammonemia (HP:0001987)3.53693767
26Ketosis (HP:0001946)3.49042824
27Congenital stationary night blindness (HP:0007642)3.37447572
28Abnormal biliary tract physiology (HP:0012439)3.36618096
29Bile duct proliferation (HP:0001408)3.36618096
30Woolly hair (HP:0002224)3.35400045
31Hyperglycinemia (HP:0002154)3.29850564
32Molar tooth sign on MRI (HP:0002419)3.25268863
33Abnormality of midbrain morphology (HP:0002418)3.25268863
34Hypochromic microcytic anemia (HP:0004840)3.25183723
35Abnormality of the renal cortex (HP:0011035)3.13527591
36Oral leukoplakia (HP:0002745)3.11969481
37Turricephaly (HP:0000262)3.07735816
38Fat malabsorption (HP:0002630)3.03745027
39Myocardial infarction (HP:0001658)3.02701815
40Right ventricular cardiomyopathy (HP:0011663)3.01378128
41Hypoglycemic coma (HP:0001325)3.01144540
42Ketoacidosis (HP:0001993)2.98739870
43Hyperglycinuria (HP:0003108)2.94363673
44Hypercholesterolemia (HP:0003124)2.90000115
45Abnormality of serine family amino acid metabolism (HP:0010894)2.87149851
46Abnormality of glycine metabolism (HP:0010895)2.87149851
47Abnormality of the renal medulla (HP:0100957)2.84137967
48Acute necrotizing encephalopathy (HP:0006965)2.83717853
49Conjunctival hamartoma (HP:0100780)2.83487838
50Progressive macrocephaly (HP:0004481)2.82344661
51Abnormality of the common coagulation pathway (HP:0010990)2.78644604
52Abnormality of glutamine family amino acid metabolism (HP:0010902)2.77844347
53Erythroderma (HP:0001019)2.76457480
54Pustule (HP:0200039)2.74812329
55Nephronophthisis (HP:0000090)2.74220666
56Abnormality of methionine metabolism (HP:0010901)2.73935757
57Abnormality of sulfur amino acid metabolism (HP:0004339)2.72211608
58Pendular nystagmus (HP:0012043)2.70294327
59Abnormality of aspartate family amino acid metabolism (HP:0010899)2.69057910
60Nail dystrophy (HP:0008404)2.69012908
61Onycholysis (HP:0001806)2.60797101
62Malnutrition (HP:0004395)2.60584998
63Complement deficiency (HP:0004431)2.56778982
64Pili torti (HP:0003777)2.54348775
65Cystic liver disease (HP:0006706)2.53862444
66Polycythemia (HP:0001901)2.53236377
67Hypoproteinemia (HP:0003075)2.49864232
68Mitochondrial inheritance (HP:0001427)2.49509885
69Acute encephalopathy (HP:0006846)2.48071296
70Chronic hepatic failure (HP:0100626)2.46859358
71Neonatal onset (HP:0003623)2.45322763
72Abnormal mitochondria in muscle tissue (HP:0008316)2.44058568
73Hyperbilirubinemia (HP:0002904)2.43785779
74Abnormal blistering of the skin (HP:0008066)2.43303914
75Furrowed tongue (HP:0000221)2.43237717
76Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.41647477
77Sclerocornea (HP:0000647)2.41519628
78Abnormality of fatty-acid metabolism (HP:0004359)2.39444889
79Abolished electroretinogram (ERG) (HP:0000550)2.39322785
80Abnormal hemoglobin (HP:0011902)2.36847897
81Abnormality of pyrimidine metabolism (HP:0004353)2.34974814
82Abnormal rod and cone electroretinograms (HP:0008323)2.33776188
83Tubular atrophy (HP:0000092)2.33407036
84Fair hair (HP:0002286)2.32445264
85Medial flaring of the eyebrow (HP:0010747)2.32154478
86Conjugated hyperbilirubinemia (HP:0002908)2.30864994
87Congenital, generalized hypertrichosis (HP:0004540)2.29605764
88Erythema (HP:0010783)2.29386917
89Abnormal gallbladder morphology (HP:0012437)2.28979720
90Abnormality of placental membranes (HP:0011409)2.28831859
91Amniotic constriction ring (HP:0009775)2.28831859
92Chromosomal breakage induced by crosslinking agents (HP:0003221)2.28655649
93Cholecystitis (HP:0001082)2.28472059
94Abnormal gallbladder physiology (HP:0012438)2.28472059
95Cholelithiasis (HP:0001081)2.28231708
96Anencephaly (HP:0002323)2.24840513
97Neoplasm of the adrenal cortex (HP:0100641)2.23747874
98Increased CSF lactate (HP:0002490)2.22860653
99Delayed CNS myelination (HP:0002188)2.20045382
100Steatorrhea (HP:0002570)2.19551757
101Fragile nails (HP:0001808)2.19446171
102Hyperventilation (HP:0002883)2.18981879
103Abnormality of the Achilles tendon (HP:0005109)2.16409391
104Attenuation of retinal blood vessels (HP:0007843)2.15512114
105Chromsome breakage (HP:0040012)2.14733734
106Aplasia/Hypoplasia of the uvula (HP:0010293)2.14427296
107Methylmalonic acidemia (HP:0002912)2.13537547
108Renal cortical cysts (HP:0000803)2.12028346
109Abnormality of the labia minora (HP:0012880)2.11832948
110Aplasia/Hypoplasia of the tongue (HP:0010295)2.11575755
111Exercise-induced myalgia (HP:0003738)2.10807057
112Abnormality of the intrinsic pathway (HP:0010989)2.10734144
113Milia (HP:0001056)2.08269218
114Follicular hyperkeratosis (HP:0007502)2.06388083
115Abnormality of nucleobase metabolism (HP:0010932)2.05847593
116Oligodactyly (hands) (HP:0001180)2.05666367
117Meckel diverticulum (HP:0002245)2.03702347
118Amyloidosis (HP:0011034)2.03380868
119Hepatocellular carcinoma (HP:0001402)2.02895185
120Brittle hair (HP:0002299)2.02789978
121Abnormality of complement system (HP:0005339)2.02255846
122Colon cancer (HP:0003003)2.01808219
123Menorrhagia (HP:0000132)2.01289110
124Absent speech (HP:0001344)2.00519906
125Corneal erosion (HP:0200020)2.00435733
126Vascular calcification (HP:0004934)2.00388455
127Broad-based gait (HP:0002136)2.00051477
128Hamartoma of the eye (HP:0010568)1.99908703
129Stomach cancer (HP:0012126)1.99735243
130Abnormality of the ileum (HP:0001549)1.99439150
131Cerebral edema (HP:0002181)1.99141024
132Congenital hepatic fibrosis (HP:0002612)1.98612551
133Aplasia/Hypoplasia of the spleen (HP:0010451)1.98009515
134Male pseudohermaphroditism (HP:0000037)1.97767358
135Abnormality of serum amino acid levels (HP:0003112)1.96544381
136Spastic diplegia (HP:0001264)1.96515529
137Supernumerary spleens (HP:0009799)1.95950640
138Hepatocellular necrosis (HP:0001404)1.95771031
139Febrile seizures (HP:0002373)1.95551090
140Clubbing of toes (HP:0100760)1.95015321
141Ectopic kidney (HP:0000086)1.94126166
142Abnormal hair laboratory examination (HP:0003328)1.92824692
143Male infertility (HP:0003251)1.92776858
144Chronic bronchitis (HP:0004469)1.92085989
145Myoglobinuria (HP:0002913)1.92029743
146Congenital ichthyosiform erythroderma (HP:0007431)1.91752770
147Methylmalonic aciduria (HP:0012120)1.91697859
148Asplenia (HP:0001746)1.91501287
149Abnormality of purine metabolism (HP:0004352)1.91283983
150Coronal craniosynostosis (HP:0004440)1.90469084
151Thyroiditis (HP:0100646)1.90008054
152Gangrene (HP:0100758)1.89965795
153Opisthotonus (HP:0002179)1.89883645
154Nephrogenic diabetes insipidus (HP:0009806)1.89621479
155Palmoplantar keratoderma (HP:0000982)1.89039141
156Ulnar bowing (HP:0003031)1.86290625
157Albinism (HP:0001022)1.85212977
158Lipid accumulation in hepatocytes (HP:0006561)1.85044452
159Intestinal atresia (HP:0011100)1.84905224
160Severe visual impairment (HP:0001141)1.84775421
161Abnormality of vitamin B metabolism (HP:0004340)1.84110154
162Abnormality of hair growth rate (HP:0011363)1.83707583
163Slow-growing hair (HP:0002217)1.83707583
164Postaxial foot polydactyly (HP:0001830)1.83677542
165Late onset (HP:0003584)1.82853479
166Polyuria (HP:0000103)1.82626694
167Hypomagnesemia (HP:0002917)1.82345755
168Cardiovascular calcification (HP:0011915)1.81259364
169Protruding tongue (HP:0010808)1.80899953
170Absent rod-and cone-mediated responses on ERG (HP:0007688)1.80883947
171Generalized hypopigmentation of hair (HP:0011358)1.79841385
172Gaze-evoked nystagmus (HP:0000640)1.79424773
173Irritability (HP:0000737)1.79381586
174Optic nerve hypoplasia (HP:0000609)1.79090854
175Skin nodule (HP:0200036)1.78659778
176Abnormal drinking behavior (HP:0030082)1.78375473
177Polydipsia (HP:0001959)1.78375473
178Increased mean platelet volume (HP:0011877)1.78101583
179Type II lissencephaly (HP:0007260)1.77898129
180Lethargy (HP:0001254)1.76044346
181Abnormality of the preputium (HP:0100587)1.75811467
182Abnormality of macular pigmentation (HP:0008002)1.73286190
183Optic disc pallor (HP:0000543)1.72926725
184Aplasia/Hypoplasia of the fovea (HP:0008060)1.71832042
185Hypoplasia of the fovea (HP:0007750)1.71832042
186Genital tract atresia (HP:0001827)1.71822265
187Bilateral microphthalmos (HP:0007633)1.71280836
188Aplasia/Hypoplasia of the tibia (HP:0005772)1.70879126
189Hyperinsulinemic hypoglycemia (HP:0000825)1.70622754
190Increased hepatocellular lipid droplets (HP:0006565)1.70544052
191Preaxial hand polydactyly (HP:0001177)1.70369680
192Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.70358440
193Volvulus (HP:0002580)1.68246775

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.71307967
2MAP3K64.59989846
3ICK4.19820075
4MAPK153.87682346
5BCKDK3.57430820
6MAP3K113.50436382
7DDR23.31995632
8ADRBK23.00068696
9NUAK12.96298378
10PINK12.85010308
11SIK12.84217199
12TXK2.77458781
13ZAK2.73227284
14MST42.69476228
15ERN12.57190374
16WNK32.56779470
17BMPR1B2.48851328
18TRIM282.46390724
19GRK12.38281520
20FGR2.35598101
21CASK2.35209403
22WNK42.15862603
23CSK2.14634472
24MATK2.13837490
25NEK22.08525099
26STK392.08008860
27LATS12.03159597
28CCNB12.01162689
29OXSR11.96198378
30TRIB31.88896137
31LATS21.85902782
32BRSK21.84784543
33PIK3CG1.81164767
34TYRO31.76986796
35FGFR41.76897038
36BMX1.75120446
37RIPK11.59089919
38PAK31.55367297
39PDGFRA1.51473623
40CDK61.49681691
41DYRK1B1.47785408
42MKNK21.47722849
43PRKD21.47631152
44MAPK131.46652727
45TNIK1.41455729
46ACVR1B1.41135192
47MAPK111.39871176
48DAPK11.39325322
49VRK21.39250327
50BUB11.37161956
51NLK1.31368976
52TRPM71.26616138
53EIF2AK31.25335241
54PHKG11.25316877
55PHKG21.25316877
56MAP3K41.24813907
57PLK21.22580211
58MAP4K21.22439370
59PLK31.21552576
60MST1R1.18019741
61GSK3A1.15475819
62OBSCN1.15345874
63TAOK31.13224476
64PKN21.12584870
65TAF11.12324602
66PRKAA21.10906416
67CAMKK21.09732121
68TAOK11.08787219
69ERBB31.05705730
70MAPKAPK31.05640170
71FGFR21.03903664
72PIM20.99460434
73MKNK10.98471463
74ERBB40.97202861
75DAPK20.93295026
76ADRBK10.87893790
77PRKAA10.87735294
78MAP3K100.86410520
79FLT30.83467305
80CSNK1G30.82845846
81EIF2AK10.82518502
82MAP3K30.81790402
83TTN0.81725225
84WEE10.81573614
85PRKCE0.80397017
86MAP4K10.79059256
87STK38L0.77364831
88FER0.77130952
89BCR0.76299923
90MAPK40.73299630
91MAP2K40.73096769
92ABL20.72958990
93DYRK20.72779300
94MAP3K120.72209832
95VRK10.71805536
96CSNK1G20.70533871
97RPS6KC10.70137842
98RPS6KL10.70137842
99CDK70.70053337
100RPS6KA10.69780681
101STK160.69030227
102TYK20.68651527
103FGFR10.67703429
104PRKCI0.67170144
105CSNK1A1L0.66883002
106CAMK2G0.66483446
107MAPKAPK50.65075308
108UHMK10.64462380
109MTOR0.62593822
110PIM10.61734607
111RPS6KA60.60492763
112JAK20.59619836
113EPHB20.59601768
114GRK50.59023174
115EPHA40.57664819
116PLK10.57617908
117EIF2AK20.56426257
118MOS0.55000677
119STK100.54964500
120CAMK1D0.54570827
121PRKCG0.54320384
122BRSK10.54311620
123PLK40.53811427
124EPHA30.52279993
125TGFBR20.52222143
126PTK20.51595745
127BLK0.50562725
128EPHB10.50141877
129TTK0.50031483
130PRKACG0.49611464
131CDC42BPA0.49173774
132YES10.47589677
133STK40.46803587
134CSNK1G10.46758208
135TNK20.46452483
136MINK10.46412829
137MAP3K70.45809498
138STK30.45478818
139CDK30.44758236
140ATM0.44681236
141MELK0.43542766
142TGFBR10.43060765
143PRKCZ0.42762703
144TAOK20.42659421
145MAP3K90.40954141
146NTRK30.40563577
147KSR20.40293844
148CSNK1A10.39800180
149STK110.39342953
150MET0.38916943
151CAMK2A0.38806669
152CAMK10.38425366
153MUSK0.38284448
154ATR0.38055423
155CHUK0.37069155
156MAP2K30.36258604
157GRK70.35734144
158EGFR0.35626322
159MAPK30.34649726
160PRKCQ0.34127743
161MAP2K60.33522964
162CDC70.31808384
163ROCK10.31585706
164STK380.30959096
165PRKACA0.30122457
166IGF1R0.29960873
167PTK60.29474340
168PRKCA0.29305276
169TLK10.28938455
170PTK2B0.27444349
171PRKG10.27369996
172MAPKAPK20.26705310
173INSRR0.26560838
174NTRK20.26345782
175PRKD10.25943506
176CHEK20.25234633
177MAPK10.24389279
178MAP2K10.24040604
179MAP3K10.21683031
180TBK10.20442785
181PAK20.19842900

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.68448121
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.61139387
3Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.53539650
4Phototransduction_Homo sapiens_hsa047443.30106919
5Arginine biosynthesis_Homo sapiens_hsa002202.88908143
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.85087027
7Nitrogen metabolism_Homo sapiens_hsa009102.80131133
8Fatty acid metabolism_Homo sapiens_hsa012122.72818919
9Fatty acid biosynthesis_Homo sapiens_hsa000612.60827276
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.52627486
11Fatty acid degradation_Homo sapiens_hsa000712.49346464
12Tryptophan metabolism_Homo sapiens_hsa003802.41456274
13Non-homologous end-joining_Homo sapiens_hsa034502.40509283
14Fatty acid elongation_Homo sapiens_hsa000622.40006260
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.31061553
16Oxidative phosphorylation_Homo sapiens_hsa001902.26588231
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.22134532
18Proteasome_Homo sapiens_hsa030502.21077387
19Complement and coagulation cascades_Homo sapiens_hsa046102.18386511
20PPAR signaling pathway_Homo sapiens_hsa033202.09155683
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.08900914
22Propanoate metabolism_Homo sapiens_hsa006402.08538942
23Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.02602018
24Butanoate metabolism_Homo sapiens_hsa006501.98979514
25Histidine metabolism_Homo sapiens_hsa003401.94111935
26Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.92144473
27Protein export_Homo sapiens_hsa030601.91715262
28Fanconi anemia pathway_Homo sapiens_hsa034601.90985544
29Chemical carcinogenesis_Homo sapiens_hsa052041.90430829
30Peroxisome_Homo sapiens_hsa041461.88344692
31Homologous recombination_Homo sapiens_hsa034401.79907953
32Steroid biosynthesis_Homo sapiens_hsa001001.77258229
33beta-Alanine metabolism_Homo sapiens_hsa004101.75621466
34Retinol metabolism_Homo sapiens_hsa008301.66964593
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.66775931
36Parkinsons disease_Homo sapiens_hsa050121.61818612
37Staphylococcus aureus infection_Homo sapiens_hsa051501.60958391
38Basal transcription factors_Homo sapiens_hsa030221.60205816
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.57507260
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.56928569
41Drug metabolism - other enzymes_Homo sapiens_hsa009831.56855505
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.54986012
43Fat digestion and absorption_Homo sapiens_hsa049751.54836097
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.51024563
45Pyruvate metabolism_Homo sapiens_hsa006201.48867797
46Phenylalanine metabolism_Homo sapiens_hsa003601.48849678
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.47961369
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.46153446
49Arginine and proline metabolism_Homo sapiens_hsa003301.43096534
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.41393631
51Bile secretion_Homo sapiens_hsa049761.35180545
52Starch and sucrose metabolism_Homo sapiens_hsa005001.32371250
53Folate biosynthesis_Homo sapiens_hsa007901.31180853
54RNA polymerase_Homo sapiens_hsa030201.29264215
55Biosynthesis of amino acids_Homo sapiens_hsa012301.29173746
56Tyrosine metabolism_Homo sapiens_hsa003501.28255242
57Nicotine addiction_Homo sapiens_hsa050331.24038664
58RNA degradation_Homo sapiens_hsa030181.22846464
59ABC transporters_Homo sapiens_hsa020101.22805152
60Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.19385164
61Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.18380928
62Olfactory transduction_Homo sapiens_hsa047401.14901805
63Caffeine metabolism_Homo sapiens_hsa002321.11455348
64Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.07920332
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.07883563
66Lysine degradation_Homo sapiens_hsa003101.07206077
67Maturity onset diabetes of the young_Homo sapiens_hsa049501.07051275
68Regulation of autophagy_Homo sapiens_hsa041401.03074779
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.02225889
70Selenocompound metabolism_Homo sapiens_hsa004501.01534387
71Carbon metabolism_Homo sapiens_hsa012001.01366597
72Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.99042860
73Huntingtons disease_Homo sapiens_hsa050160.98079176
74Sulfur relay system_Homo sapiens_hsa041220.96289503
75Cyanoamino acid metabolism_Homo sapiens_hsa004600.96057069
76Alzheimers disease_Homo sapiens_hsa050100.92510927
77Glycerolipid metabolism_Homo sapiens_hsa005610.91124243
78Cysteine and methionine metabolism_Homo sapiens_hsa002700.90636806
79Sulfur metabolism_Homo sapiens_hsa009200.87646635
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86774827
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85961096
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.84770062
83Mineral absorption_Homo sapiens_hsa049780.83080199
84Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76021641
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74627797
86RNA transport_Homo sapiens_hsa030130.73228639
87Purine metabolism_Homo sapiens_hsa002300.71204783
88Linoleic acid metabolism_Homo sapiens_hsa005910.70600904
89Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70088840
90Vitamin digestion and absorption_Homo sapiens_hsa049770.67893947
91Primary immunodeficiency_Homo sapiens_hsa053400.67435030
92Glutathione metabolism_Homo sapiens_hsa004800.66476268
93Serotonergic synapse_Homo sapiens_hsa047260.66009109
94DNA replication_Homo sapiens_hsa030300.63081008
95Taste transduction_Homo sapiens_hsa047420.63050150
96Collecting duct acid secretion_Homo sapiens_hsa049660.62847950
97Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.62814394
98Pyrimidine metabolism_Homo sapiens_hsa002400.59271143
99Sphingolipid metabolism_Homo sapiens_hsa006000.58002346
100Mismatch repair_Homo sapiens_hsa034300.57654199
101Nucleotide excision repair_Homo sapiens_hsa034200.55425734
102Vitamin B6 metabolism_Homo sapiens_hsa007500.52239552
103Cardiac muscle contraction_Homo sapiens_hsa042600.49666627
104Morphine addiction_Homo sapiens_hsa050320.47248297
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45882685
106Salivary secretion_Homo sapiens_hsa049700.45526298
107Oocyte meiosis_Homo sapiens_hsa041140.45076649
108One carbon pool by folate_Homo sapiens_hsa006700.41453707
109Fructose and mannose metabolism_Homo sapiens_hsa000510.40832452
110Pentose phosphate pathway_Homo sapiens_hsa000300.39667034
111Renin-angiotensin system_Homo sapiens_hsa046140.38084250
112Metabolic pathways_Homo sapiens_hsa011000.36204056
113Insulin secretion_Homo sapiens_hsa049110.35574538
114Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33898149
115GABAergic synapse_Homo sapiens_hsa047270.33128153
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.32251095
117Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.25832878
118Galactose metabolism_Homo sapiens_hsa000520.23365567
119Circadian rhythm_Homo sapiens_hsa047100.23048318
120Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21384349
121Insulin resistance_Homo sapiens_hsa049310.20729378
122AMPK signaling pathway_Homo sapiens_hsa041520.18758093
123Adipocytokine signaling pathway_Homo sapiens_hsa049200.18749420
124Bladder cancer_Homo sapiens_hsa052190.16516839
125Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.13074131
126Insulin signaling pathway_Homo sapiens_hsa049100.13029745
127Glucagon signaling pathway_Homo sapiens_hsa049220.12191833
128Base excision repair_Homo sapiens_hsa034100.11861246
129Ovarian steroidogenesis_Homo sapiens_hsa049130.11820586
130Arachidonic acid metabolism_Homo sapiens_hsa005900.10751079
131Notch signaling pathway_Homo sapiens_hsa043300.07974680
132Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.06093512
133Longevity regulating pathway - mammal_Homo sapiens_hsa042110.04651047
134Adherens junction_Homo sapiens_hsa045200.02380135
135Ether lipid metabolism_Homo sapiens_hsa005650.01908998
136mTOR signaling pathway_Homo sapiens_hsa041500.01702991
137Basal cell carcinoma_Homo sapiens_hsa052170.01326508
138Prion diseases_Homo sapiens_hsa05020-0.0950645
139Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0854743
140TGF-beta signaling pathway_Homo sapiens_hsa04350-0.0730210
141Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.0574184
142Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0376740
143Hedgehog signaling pathway_Homo sapiens_hsa04340-0.0333842
144VEGF signaling pathway_Homo sapiens_hsa04370-0.0286541
145Hippo signaling pathway_Homo sapiens_hsa04390-0.0015583

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