MMAB

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 encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.17169506
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.17169506
3L-phenylalanine metabolic process (GO:0006558)6.04149268
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.04149268
5alpha-linolenic acid metabolic process (GO:0036109)5.72033768
6aromatic amino acid family catabolic process (GO:0009074)5.49909492
7lysine metabolic process (GO:0006553)5.37676592
8lysine catabolic process (GO:0006554)5.37676592
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.37365053
10glyoxylate metabolic process (GO:0046487)5.30004830
11kynurenine metabolic process (GO:0070189)5.15296487
12tryptophan catabolic process (GO:0006569)4.89577256
13indole-containing compound catabolic process (GO:0042436)4.89577256
14indolalkylamine catabolic process (GO:0046218)4.89577256
15bile acid biosynthetic process (GO:0006699)4.85826088
16cellular ketone body metabolic process (GO:0046950)4.79281823
17behavioral response to nicotine (GO:0035095)4.77996299
18protein complex biogenesis (GO:0070271)4.76865931
192-oxoglutarate metabolic process (GO:0006103)4.67074659
20fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.57468988
21sulfur amino acid catabolic process (GO:0000098)4.55413781
22coenzyme catabolic process (GO:0009109)4.52672067
23tryptophan metabolic process (GO:0006568)4.51365148
24acetyl-CoA metabolic process (GO:0006084)4.45971758
25negative regulation of fibrinolysis (GO:0051918)4.44873032
26high-density lipoprotein particle remodeling (GO:0034375)4.43584871
27mitochondrial respiratory chain complex assembly (GO:0033108)4.36764718
28aspartate family amino acid catabolic process (GO:0009068)4.36360731
29urea cycle (GO:0000050)4.32288295
30urea metabolic process (GO:0019627)4.32288295
31cysteine metabolic process (GO:0006534)4.31852233
32short-chain fatty acid metabolic process (GO:0046459)4.30974728
33mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.27642708
34alpha-amino acid catabolic process (GO:1901606)4.26293722
35regulation of triglyceride catabolic process (GO:0010896)4.25480064
36ATP synthesis coupled proton transport (GO:0015986)4.21108049
37energy coupled proton transport, down electrochemical gradient (GO:0015985)4.21108049
38DNA deamination (GO:0045006)4.17972327
39complement activation, alternative pathway (GO:0006957)4.17657912
40ketone body metabolic process (GO:1902224)4.15488837
41serine family amino acid catabolic process (GO:0009071)4.14368256
42regulation of fibrinolysis (GO:0051917)4.14281430
43establishment of protein localization to mitochondrial membrane (GO:0090151)4.12587934
44mitochondrial respiratory chain complex I assembly (GO:0032981)4.12108381
45NADH dehydrogenase complex assembly (GO:0010257)4.12108381
46mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.12108381
47ethanol oxidation (GO:0006069)4.11459107
48amino-acid betaine metabolic process (GO:0006577)4.10807975
49fatty acid beta-oxidation (GO:0006635)4.07993105
50protein carboxylation (GO:0018214)4.03804592
51peptidyl-glutamic acid carboxylation (GO:0017187)4.03804592
52bile acid metabolic process (GO:0008206)4.02255481
53cellular amino acid catabolic process (GO:0009063)4.00591751
54regulation of protein activation cascade (GO:2000257)4.00480004
55pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.96104053
56nitrogen cycle metabolic process (GO:0071941)3.94506271
57dicarboxylic acid biosynthetic process (GO:0043650)3.91231216
58regulation of cholesterol esterification (GO:0010872)3.90568549
59aromatic amino acid family metabolic process (GO:0009072)3.88359538
60base-excision repair, AP site formation (GO:0006285)3.88340917
61fatty acid oxidation (GO:0019395)3.88309851
62polyketide metabolic process (GO:0030638)3.87959374
63doxorubicin metabolic process (GO:0044598)3.87959374
64daunorubicin metabolic process (GO:0044597)3.87959374
65glutamate metabolic process (GO:0006536)3.87545116
66fatty acid catabolic process (GO:0009062)3.86211104
67cellular modified amino acid catabolic process (GO:0042219)3.85754056
68plasma lipoprotein particle clearance (GO:0034381)3.83134786
69positive regulation of fatty acid beta-oxidation (GO:0032000)3.82474691
70plasma lipoprotein particle remodeling (GO:0034369)3.82339374
71protein-lipid complex remodeling (GO:0034368)3.82339374
72macromolecular complex remodeling (GO:0034367)3.82339374
73branched-chain amino acid catabolic process (GO:0009083)3.82116998
74homocysteine metabolic process (GO:0050667)3.81760530
75lipid oxidation (GO:0034440)3.80834914
76monocarboxylic acid catabolic process (GO:0072329)3.77953675
77glycine metabolic process (GO:0006544)3.77409185
78acylglycerol homeostasis (GO:0055090)3.76446815
79triglyceride homeostasis (GO:0070328)3.76446815
80valine metabolic process (GO:0006573)3.74821480
81mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.71618813
82regulation of complement activation (GO:0030449)3.71583125
83reverse cholesterol transport (GO:0043691)3.71054024
84carboxylic acid catabolic process (GO:0046395)3.67550460
85organic acid catabolic process (GO:0016054)3.67550460
86chaperone-mediated protein transport (GO:0072321)3.64357472
87fatty acid transmembrane transport (GO:1902001)3.64291049
88negative regulation of cholesterol transport (GO:0032375)3.63826106
89negative regulation of sterol transport (GO:0032372)3.63826106
90regulation of mitochondrial translation (GO:0070129)3.63160366
91tyrosine metabolic process (GO:0006570)3.59291715
92cytochrome complex assembly (GO:0017004)3.58904881
93serine family amino acid biosynthetic process (GO:0009070)3.56504820
94drug catabolic process (GO:0042737)3.55541575
95positive regulation of fatty acid oxidation (GO:0046321)3.53691293
96arginine metabolic process (GO:0006525)3.53014251
97positive regulation of lipid catabolic process (GO:0050996)3.51449501
98oxaloacetate metabolic process (GO:0006107)3.51261521
99serine family amino acid metabolic process (GO:0009069)3.49413936
100branched-chain amino acid metabolic process (GO:0009081)3.48581480
101carnitine shuttle (GO:0006853)3.47092682
102indolalkylamine metabolic process (GO:0006586)3.45660844
103imidazole-containing compound metabolic process (GO:0052803)3.41199637
104tricarboxylic acid metabolic process (GO:0072350)3.36785085
105cofactor catabolic process (GO:0051187)3.36091917
106electron transport chain (GO:0022900)3.35736257
107carnitine metabolic process (GO:0009437)3.35404106
108regulation of fatty acid beta-oxidation (GO:0031998)3.33386316
109tricarboxylic acid cycle (GO:0006099)3.33333903
110cellular glucuronidation (GO:0052695)3.32843864
111respiratory electron transport chain (GO:0022904)3.31881329
112regulation of fatty acid oxidation (GO:0046320)3.28086045
113pyrimidine nucleobase catabolic process (GO:0006208)3.27778196
114protein neddylation (GO:0045116)3.26979206
115phospholipid efflux (GO:0033700)3.26922845
116low-density lipoprotein particle remodeling (GO:0034374)3.26691041
117dicarboxylic acid catabolic process (GO:0043649)3.26389925
118succinate metabolic process (GO:0006105)3.26121794
119benzene-containing compound metabolic process (GO:0042537)3.24278507
120negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.23698034
121pyrimidine nucleotide catabolic process (GO:0006244)3.23324213
122bile acid and bile salt transport (GO:0015721)3.23269028
123RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.13523726
124tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.13523726
125ubiquinone biosynthetic process (GO:0006744)3.11429914
126protein polyglutamylation (GO:0018095)3.08762119
127ubiquinone metabolic process (GO:0006743)3.05991224
128respiratory chain complex IV assembly (GO:0008535)3.05338462
129viral transcription (GO:0019083)3.02526894
130response to pheromone (GO:0019236)3.01407864
131pseudouridine synthesis (GO:0001522)2.99858166
132ribosomal small subunit biogenesis (GO:0042274)2.95750045
133mannosylation (GO:0097502)2.95119732
134ribosomal small subunit assembly (GO:0000028)2.94295082
135translational termination (GO:0006415)2.90643286
136GTP biosynthetic process (GO:0006183)2.89481936
137purine nucleoside triphosphate biosynthetic process (GO:0009145)2.88675466
138purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.87938000
139* water-soluble vitamin biosynthetic process (GO:0042364)2.87716460
140ATP biosynthetic process (GO:0006754)2.87450441
141deoxyribonucleotide catabolic process (GO:0009264)2.84552043
142preassembly of GPI anchor in ER membrane (GO:0016254)2.83833500
143cell proliferation in forebrain (GO:0021846)2.83162973
144pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.81319075
145nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.80380134
146somite development (GO:0061053)2.80140218
147L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79176347
148intracellular protein transmembrane import (GO:0044743)2.79161946
149replication fork processing (GO:0031297)2.78612537
150negative regulation of membrane potential (GO:0045837)2.77401745
151positive regulation of fatty acid transport (GO:2000193)2.74193194
152transcription elongation from RNA polymerase III promoter (GO:0006385)2.74136927
153termination of RNA polymerase III transcription (GO:0006386)2.74136927
154negative regulation of transcription regulatory region DNA binding (GO:2000678)2.73191071
155axoneme assembly (GO:0035082)2.72799750
156translational elongation (GO:0006414)2.72128147
157iron-sulfur cluster assembly (GO:0016226)2.68530701
158metallo-sulfur cluster assembly (GO:0031163)2.68530701
159exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.68054828
160SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.67358427
161amino acid salvage (GO:0043102)2.65939519
162L-methionine salvage (GO:0071267)2.65939519
163L-methionine biosynthetic process (GO:0071265)2.65939519
164quinone biosynthetic process (GO:1901663)2.65766767
165cotranslational protein targeting to membrane (GO:0006613)2.64455424
166regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.62405901
167protein targeting to ER (GO:0045047)2.61096962
168platelet dense granule organization (GO:0060155)2.60140050
169protein localization to endoplasmic reticulum (GO:0070972)2.57642343
170aldehyde catabolic process (GO:0046185)2.56886819
171GPI anchor metabolic process (GO:0006505)2.56747207
172resolution of meiotic recombination intermediates (GO:0000712)2.56057393
173deoxyribose phosphate catabolic process (GO:0046386)2.55126522
174ribonucleoside triphosphate biosynthetic process (GO:0009201)2.54550699
175maturation of SSU-rRNA (GO:0030490)2.54183370
176cholesterol biosynthetic process (GO:0006695)2.47453829
177establishment of protein localization to endoplasmic reticulum (GO:0072599)2.47248336
178hydrogen ion transmembrane transport (GO:1902600)2.45110337
179regulation of mesoderm development (GO:2000380)2.42988716
180negative regulation of DNA-templated transcription, elongation (GO:0032785)2.42975259
181epithelial cilium movement (GO:0003351)2.42879841
182tRNA processing (GO:0008033)2.41815784
183intracellular protein transmembrane transport (GO:0065002)2.41778585
184isoprenoid biosynthetic process (GO:0008299)2.41694893
185cellular component biogenesis (GO:0044085)2.41665283
186negative regulation of appetite (GO:0032099)2.41105540
187negative regulation of response to food (GO:0032096)2.41105540
188establishment of protein localization to mitochondrion (GO:0072655)2.41037146

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.29097846
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.03225803
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.00310955
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.26328215
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.60876447
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.51224615
7FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.89002442
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.62553831
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.22762526
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.21066797
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.20648848
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.19810445
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.10083659
14* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.02078876
15* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.01621365
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.76156832
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.59995366
18TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.56513102
19ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.46367899
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.46019067
21ZNF274_21170338_ChIP-Seq_K562_Hela2.39954203
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.36831455
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.19982155
24VDR_22108803_ChIP-Seq_LS180_Human2.08850704
25IRF1_19129219_ChIP-ChIP_H3396_Human2.08194389
26SRF_21415370_ChIP-Seq_HL-1_Mouse2.01616017
27TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.01594330
28ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.2935857
29MYC_18940864_ChIP-ChIP_HL60_Human1.99271329
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.87317652
31SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.85088778
32HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.73378088
33CLOCK_20551151_ChIP-Seq_293T_Human1.70153372
34ESR1_20079471_ChIP-ChIP_T-47D_Human1.69883679
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.68971738
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.60656586
37CREB1_15753290_ChIP-ChIP_HEK293T_Human1.59410402
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.58601515
39VDR_23849224_ChIP-Seq_CD4+_Human1.57873870
40RARG_19884340_ChIP-ChIP_MEFs_Mouse1.55753122
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.54989748
42CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.53031500
43CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.50807342
44GABP_19822575_ChIP-Seq_HepG2_Human1.50666215
45MYC_18555785_ChIP-Seq_MESCs_Mouse1.49173348
46* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.48259960
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.47135957
48IGF1R_20145208_ChIP-Seq_DFB_Human1.46377838
49CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.46220221
50ESR1_15608294_ChIP-ChIP_MCF-7_Human1.44648357
51FOXP3_21729870_ChIP-Seq_TREG_Human1.42381256
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.41059659
53LXR_22292898_ChIP-Seq_THP-1_Human1.39197891
54HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.38209527
55YY1_21170310_ChIP-Seq_MESCs_Mouse1.38196456
56CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.38001520
57HTT_18923047_ChIP-ChIP_STHdh_Human1.37804664
58* FOXA2_19822575_ChIP-Seq_HepG2_Human1.36788216
59ELF1_17652178_ChIP-ChIP_JURKAT_Human1.34160288
60EZH2_22144423_ChIP-Seq_EOC_Human1.33794961
61NCOR_22424771_ChIP-Seq_293T_Human1.32511844
62EZH2_27304074_Chip-Seq_ESCs_Mouse1.31975057
63SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.31558472
64THAP11_20581084_ChIP-Seq_MESCs_Mouse1.27433778
65XRN2_22483619_ChIP-Seq_HELA_Human1.27185905
66RNF2_27304074_Chip-Seq_NSC_Mouse1.25594868
67ZNF263_19887448_ChIP-Seq_K562_Human1.25507023
68MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.24429511
69CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24008328
70ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.23774334
71ERA_21632823_ChIP-Seq_H3396_Human1.23039338
72TP53_22573176_ChIP-Seq_HFKS_Human1.23034863
73FUS_26573619_Chip-Seq_HEK293_Human1.22509085
74GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20735896
75TTF2_22483619_ChIP-Seq_HELA_Human1.20093682
76HNF4A_19822575_ChIP-Seq_HepG2_Human1.19846366
77REST_21632747_ChIP-Seq_MESCs_Mouse1.19476745
78EWS_26573619_Chip-Seq_HEK293_Human1.18619813
79MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.15865205
80DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14777265
81JARID2_20064375_ChIP-Seq_MESCs_Mouse1.13769730
82ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13755832
83NOTCH1_21737748_ChIP-Seq_TLL_Human1.13492358
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.13209299
85EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.11792583
86TP63_19390658_ChIP-ChIP_HaCaT_Human1.10730303
87CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09532394
88PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.08818170
89P53_21459846_ChIP-Seq_SAOS-2_Human1.07530281
90CTCF_20526341_ChIP-Seq_ESCs_Human1.07342052
91FOXA1_25329375_ChIP-Seq_VCAP_Human1.06943629
92FOXA1_27270436_Chip-Seq_PROSTATE_Human1.06943629
93NANOG_20526341_ChIP-Seq_ESCs_Human1.06697580
94STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06550170
95TBX20_22328084_ChIP-Seq_HEART_Mouse1.06357920
96TBX20_22080862_ChIP-Seq_HEART_Mouse1.06357920
97CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.06291054
98RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05182828
99ELK1_19687146_ChIP-ChIP_HELA_Human1.04242335
100GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.04234712
101POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.03486300
102PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03380366
103GATA3_21878914_ChIP-Seq_MCF-7_Human1.03084346
104SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01969832
105SUZ12_27294783_Chip-Seq_ESCs_Mouse1.01249614
106RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.00828840
107ETV2_25802403_ChIP-Seq_MESCs_Mouse1.00751464
108ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.00636664
109EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.99912195
110ERG_21242973_ChIP-ChIP_JURKAT_Human0.98940261
111YY1_22570637_ChIP-Seq_MALME-3M_Human0.98724759
112* AR_20517297_ChIP-Seq_VCAP_Human0.98700597
113GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98060019
114PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.97909107
115MYC_19829295_ChIP-Seq_ESCs_Human0.95178215
116FOXP1_21924763_ChIP-Seq_HESCs_Human0.95010818
117* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.94829340
118CTCF_18555785_ChIP-Seq_MESCs_Mouse0.94490203
119LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.94112060
120GATA1_19941827_ChIP-Seq_MEL_Mouse0.92377117
121EP300_21415370_ChIP-Seq_HL-1_Mouse0.92284892
122SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.90278740
123FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90214185
124DROSHA_22980978_ChIP-Seq_HELA_Human0.89326649
125SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89197868
126HOXB7_26014856_ChIP-Seq_BT474_Human0.88229447
127GATA1_22025678_ChIP-Seq_K562_Human0.87611490
128SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.83323952
129CTCF_27219007_Chip-Seq_Bcells_Human0.83319102
130TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82496593
131RXRA_24833708_ChIP-Seq_LIVER_Mouse0.81721879
132BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80183837
133MTF2_20144788_ChIP-Seq_MESCs_Mouse0.79523133
134NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.76419744
135GATA1_19941826_ChIP-Seq_K562_Human0.76388330
136ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.76334815
137* AUTS2_25519132_ChIP-Seq_293T-REX_Human0.75870474
138* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.75804699
139SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75517086
140SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.74774351
141RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74700179
142EZH2_18974828_ChIP-Seq_MESCs_Mouse0.74203991
143RNF2_18974828_ChIP-Seq_MESCs_Mouse0.74203991
144TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.73248580
145TET1_21451524_ChIP-Seq_MESCs_Mouse0.72154280
146ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.71575450
147PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.71446492
148ZFP281_18757296_ChIP-ChIP_E14_Mouse0.69161280
149P68_20966046_ChIP-Seq_HELA_Human0.68038807
150SPI1_20517297_ChIP-Seq_HL60_Human0.66741702
151EZH2_27294783_Chip-Seq_ESCs_Mouse0.64504711
152REST_18959480_ChIP-ChIP_MESCs_Mouse0.63459253
153SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.63168404
154RARB_27405468_Chip-Seq_BRAIN_Mouse0.61976803
155NRF2_20460467_ChIP-Seq_MEFs_Mouse0.61306872
156NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.61306872
157JARID2_20075857_ChIP-Seq_MESCs_Mouse0.61201800
158BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60589770
159SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.60488945
160NR3C1_23031785_ChIP-Seq_PC12_Mouse0.60437239
161TAF2_19829295_ChIP-Seq_ESCs_Human0.58508446
162OCT4_20526341_ChIP-Seq_ESCs_Human0.58285294
163GATA4_21415370_ChIP-Seq_HL-1_Mouse0.57674315
164EED_16625203_ChIP-ChIP_MESCs_Mouse0.57088957
165SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.57041196
166BCL6_27268052_Chip-Seq_Bcells_Human0.56485564
167GATA2_19941826_ChIP-Seq_K562_Human0.56384995
168STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.55799153
169SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.55424050
170SMC3_22415368_ChIP-Seq_MEFs_Mouse0.54386552
171KLF4_19829295_ChIP-Seq_ESCs_Human0.54319652
172* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.54256836
173GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.53984311
174GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.53967434
175CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.53838188
176E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.53761726
177TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.53510863
178CBP_21632823_ChIP-Seq_H3396_Human0.53167361
179SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.52595146
180NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.52010304
181ELF1_20517297_ChIP-Seq_JURKAT_Human0.51573773
182MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.51382222
183CREB1_26743006_Chip-Seq_LNCaP_Human0.50814340
184RACK7_27058665_Chip-Seq_MCF-7_Human0.50599811
185TP53_20018659_ChIP-ChIP_R1E_Mouse0.49493271

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.99087939
2MP0005360_urolithiasis6.39645975
3MP0005085_abnormal_gallbladder_physiolo5.41426022
4MP0005365_abnormal_bile_salt5.20974832
5MP0003806_abnormal_nucleotide_metabolis4.34690416
6MP0008875_abnormal_xenobiotic_pharmacok3.83884074
7MP0006292_abnormal_olfactory_placode3.32537925
8MP0003252_abnormal_bile_duct3.25320433
9MP0010329_abnormal_lipoprotein_level3.21226341
10MP0003646_muscle_fatigue3.07352973
11MP0002837_dystrophic_cardiac_calcinosis2.91685150
12MP0009840_abnormal_foam_cell2.67798227
13MP0005083_abnormal_biliary_tract2.62790596
14MP0005646_abnormal_pituitary_gland2.60000015
15MP0005332_abnormal_amino_acid2.53686779
16MP0004130_abnormal_muscle_cell2.34796286
17MP0000751_myopathy2.12280720
18MP0002118_abnormal_lipid_homeostasis2.06344106
19MP0002736_abnormal_nociception_after2.04628157
20MP0001968_abnormal_touch/_nociception1.98444096
21MP0008789_abnormal_olfactory_epithelium1.94416752
22MP0002938_white_spotting1.91856815
23MP0003122_maternal_imprinting1.89079778
24MP0003195_calcinosis1.88826595
25MP0002160_abnormal_reproductive_system1.87425356
26MP0002102_abnormal_ear_morphology1.86924840
27MP0000609_abnormal_liver_physiology1.84297231
28MP0001529_abnormal_vocalization1.81817959
29MP0004133_heterotaxia1.81380723
30MP0006036_abnormal_mitochondrial_physio1.80681584
31MP0003283_abnormal_digestive_organ1.79465440
32MP0001666_abnormal_nutrient_absorption1.78130096
33MP0005584_abnormal_enzyme/coenzyme_acti1.74650475
34MP0005319_abnormal_enzyme/_coenzyme1.73038588
35MP0002653_abnormal_ependyma_morphology1.71583763
36MP0009379_abnormal_foot_pigmentation1.69019491
37MP0003868_abnormal_feces_composition1.65471932
38MP0009697_abnormal_copulation1.65259095
39MP0006072_abnormal_retinal_apoptosis1.64697738
40MP0008872_abnormal_physiological_respon1.62266874
41MP0000049_abnormal_middle_ear1.61357811
42MP0005551_abnormal_eye_electrophysiolog1.61304944
43MP0000631_abnormal_neuroendocrine_gland1.58369794
44MP0003191_abnormal_cellular_cholesterol1.55794559
45MP0002234_abnormal_pharynx_morphology1.50598568
46MP0005389_reproductive_system_phenotype1.48111631
47MP0001485_abnormal_pinna_reflex1.47492554
48MP0004036_abnormal_muscle_relaxation1.46875146
49MP0004142_abnormal_muscle_tone1.44138275
50MP0003121_genomic_imprinting1.42243378
51MP0005330_cardiomyopathy1.41321056
52MP0000749_muscle_degeneration1.40691917
53MP0003656_abnormal_erythrocyte_physiolo1.39818583
54MP0004084_abnormal_cardiac_muscle1.37190147
55MP0000372_irregular_coat_pigmentation1.36160002
56MP0005645_abnormal_hypothalamus_physiol1.35628861
57MP0008877_abnormal_DNA_methylation1.33293043
58MP0002269_muscular_atrophy1.31479064
59MP0004885_abnormal_endolymph1.29194025
60MP0005670_abnormal_white_adipose1.27275479
61MP0004087_abnormal_muscle_fiber1.26514379
62MP0005666_abnormal_adipose_tissue1.26165016
63MP0004215_abnormal_myocardial_fiber1.26087993
64MP0002272_abnormal_nervous_system1.25665957
65MP0001764_abnormal_homeostasis1.25188421
66MP0004147_increased_porphyrin_level1.25031161
67MP0001905_abnormal_dopamine_level1.24437685
68MP0000747_muscle_weakness1.22875942
69MP0001293_anophthalmia1.22407150
70MP0003938_abnormal_ear_development1.21073504
71MP0010030_abnormal_orbit_morphology1.19715786
72MP0008058_abnormal_DNA_repair1.18608405
73MP0003880_abnormal_central_pattern1.17866109
74MP0009053_abnormal_anal_canal1.16615797
75MP0002822_catalepsy1.14488873
76MP0003787_abnormal_imprinting1.13500907
77MP0002557_abnormal_social/conspecific_i1.13320572
78MP0002163_abnormal_gland_morphology1.13074438
79MP0005394_taste/olfaction_phenotype1.12857668
80MP0005499_abnormal_olfactory_system1.12857668
81MP0000026_abnormal_inner_ear1.12825252
82MP0004233_abnormal_muscle_weight1.11715488
83MP0005253_abnormal_eye_physiology1.09979813
84MP0009046_muscle_twitch1.09074612
85MP0000566_synostosis1.08697536
86MP0001919_abnormal_reproductive_system1.08601645
87MP0003221_abnormal_cardiomyocyte_apopto1.07587657
88MP0005379_endocrine/exocrine_gland_phen1.06119192
89MP0009745_abnormal_behavioral_response1.05556352
90MP0000537_abnormal_urethra_morphology1.04849484
91MP0002638_abnormal_pupillary_reflex1.04578808
92MP0003705_abnormal_hypodermis_morpholog1.04280840
93MP0003937_abnormal_limbs/digits/tail_de1.03852611
94MP0004742_abnormal_vestibular_system1.03425998
95MP0002078_abnormal_glucose_homeostasis1.03390085
96MP0002971_abnormal_brown_adipose1.02422868
97MP0001984_abnormal_olfaction1.01396828
98MP0003186_abnormal_redox_activity1.00773292
99MP0006035_abnormal_mitochondrial_morpho1.00636740
100MP0006138_congestive_heart_failure0.99721163
101MP0003136_yellow_coat_color0.99090837
102MP0003119_abnormal_digestive_system0.98575355
103MP0005620_abnormal_muscle_contractility0.98326280
104MP0002249_abnormal_larynx_morphology0.96648266
105MP0008995_early_reproductive_senescence0.96112441
106MP0000598_abnormal_liver_morphology0.95899775
107MP0005195_abnormal_posterior_eye0.95566741
108MP0003329_amyloid_beta_deposits0.95252753
109MP0004185_abnormal_adipocyte_glucose0.94407852
110MP0000759_abnormal_skeletal_muscle0.94300108
111MP0005385_cardiovascular_system_phenoty0.94226522
112MP0001544_abnormal_cardiovascular_syste0.94226522
113MP0004019_abnormal_vitamin_homeostasis0.93953735
114MP0002972_abnormal_cardiac_muscle0.91462785
115MP0003123_paternal_imprinting0.91015092
116MP0005334_abnormal_fat_pad0.90123569
117MP0010368_abnormal_lymphatic_system0.89711365
118MP0003942_abnormal_urinary_system0.89418102
119MP0002277_abnormal_respiratory_mucosa0.89360816
120MP0009643_abnormal_urine_homeostasis0.89033850
121MP0004145_abnormal_muscle_electrophysio0.89002555
122MP0005266_abnormal_metabolism0.88824946
123MP0003878_abnormal_ear_physiology0.88542733
124MP0005377_hearing/vestibular/ear_phenot0.88542733
125MP0008775_abnormal_heart_ventricle0.88271883
126MP0002106_abnormal_muscle_physiology0.87183362
127MP0002752_abnormal_somatic_nervous0.86602264
128MP0001963_abnormal_hearing_physiology0.85768045
129MP0005535_abnormal_body_temperature0.85073787
130MP0002735_abnormal_chemical_nociception0.84727747
131MP0003890_abnormal_embryonic-extraembry0.83895841
132MP0003718_maternal_effect0.83083510
133MP0010630_abnormal_cardiac_muscle0.82132854
134MP0000778_abnormal_nervous_system0.82005141
135MP0003137_abnormal_impulse_conducting0.81492755
136MP0003567_abnormal_fetal_cardiomyocyte0.79991693
137MP0009780_abnormal_chondrocyte_physiolo0.79739425
138MP0003315_abnormal_perineum_morphology0.79364304
139MP0002572_abnormal_emotion/affect_behav0.78548269
140MP0003011_delayed_dark_adaptation0.78213332
141MP0001970_abnormal_pain_threshold0.78125417
142MP0008874_decreased_physiological_sensi0.77388568
143MP0002733_abnormal_thermal_nociception0.77186217
144MP0002282_abnormal_trachea_morphology0.76767105
145MP0005410_abnormal_fertilization0.76730959
146MP0003786_premature_aging0.76325616
147MP0009250_abnormal_appendicular_skeleto0.75957993
148MP0004859_abnormal_synaptic_plasticity0.75058601
149MP0000604_amyloidosis0.73736099
150MP0009642_abnormal_blood_homeostasis0.73303104
151MP0005376_homeostasis/metabolism_phenot0.72401174
152MP0002138_abnormal_hepatobiliary_system0.69480584
153MP0005369_muscle_phenotype0.69427034
154MP0005647_abnormal_sex_gland0.68733079
155MP0009763_increased_sensitivity_to0.68612199
156MP0005451_abnormal_body_composition0.68563385
157MP0005448_abnormal_energy_balance0.65473328
158MP0004085_abnormal_heartbeat0.63096564
159MP0001348_abnormal_lacrimal_gland0.61790409
160MP0001661_extended_life_span0.61067399
161MP0005375_adipose_tissue_phenotype0.61055826
162MP0000750_abnormal_muscle_regeneration0.60884052
163MP0006276_abnormal_autonomic_nervous0.59472241
164MP0002876_abnormal_thyroid_physiology0.56901722
165MP0003690_abnormal_glial_cell0.55077606
166MP0000230_abnormal_systemic_arterial0.54412591
167MP0005636_abnormal_mineral_homeostasis0.54402875
168MP0005423_abnormal_somatic_nervous0.53712822
169MP0000639_abnormal_adrenal_gland0.53619023
170MP0005084_abnormal_gallbladder_morpholo0.52967346
171MP0009115_abnormal_fat_cell0.50414834
172MP0009764_decreased_sensitivity_to0.50152108
173MP0002970_abnormal_white_adipose0.49943297
174MP0004043_abnormal_pH_regulation0.47460768
175MP0003953_abnormal_hormone_level0.45571035
176MP0005220_abnormal_exocrine_pancreas0.43469874
177MP0009672_abnormal_birth_weight0.42510018
178MP0003959_abnormal_lean_body0.41961381

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)5.69860077
2Abnormality of aromatic amino acid family metabolism (HP:0004338)5.52360995
3Intrahepatic cholestasis (HP:0001406)5.31857966
4Xanthomatosis (HP:0000991)4.94410633
5Hypobetalipoproteinemia (HP:0003563)4.87881615
6* Ketosis (HP:0001946)4.63044663
7Abnormality of monocarboxylic acid metabolism (HP:0010996)4.48466945
8Hyperlipoproteinemia (HP:0010980)4.47607316
9* Hyperammonemia (HP:0001987)4.40961738
10Prolonged partial thromboplastin time (HP:0003645)4.33188222
11Hypoglycemic coma (HP:0001325)4.08956213
12* Abnormality of serine family amino acid metabolism (HP:0010894)3.96073263
13* Abnormality of glycine metabolism (HP:0010895)3.96073263
14Hyperglycinuria (HP:0003108)3.92863077
15* Hyperglycinemia (HP:0002154)3.83439209
16Abnormality of fatty-acid metabolism (HP:0004359)3.77116646
17Hypolipoproteinemia (HP:0010981)3.76125480
18Acute necrotizing encephalopathy (HP:0006965)3.75075968
19Ketoacidosis (HP:0001993)3.65626607
20Complement deficiency (HP:0004431)3.60048458
21Mitochondrial inheritance (HP:0001427)3.50937960
22Myoglobinuria (HP:0002913)3.48213830
23Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.43322341
24Delayed CNS myelination (HP:0002188)3.39654170
25* Abnormality of dicarboxylic acid metabolism (HP:0010995)3.36874557
26* Dicarboxylic aciduria (HP:0003215)3.36874557
27Epidermoid cyst (HP:0200040)3.36568705
28Exercise-induced myalgia (HP:0003738)3.36441134
29Hypoalphalipoproteinemia (HP:0003233)3.34380587
30Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.33444614
31True hermaphroditism (HP:0010459)3.28781276
32Pancreatic cysts (HP:0001737)3.27473400
33Abnormality of glutamine family amino acid metabolism (HP:0010902)3.25823136
34Progressive macrocephaly (HP:0004481)3.19749620
35Pancreatic fibrosis (HP:0100732)3.17604112
36Abnormality of aspartate family amino acid metabolism (HP:0010899)3.10737529
37Abnormality of midbrain morphology (HP:0002418)3.09305653
38Molar tooth sign on MRI (HP:0002419)3.09305653
39Abnormality of methionine metabolism (HP:0010901)3.07599168
40Abnormality of sulfur amino acid metabolism (HP:0004339)3.04843071
41Cerebral edema (HP:0002181)3.03556004
42* Metabolic acidosis (HP:0001942)2.99676095
43Cutaneous melanoma (HP:0012056)2.99045342
44Nephronophthisis (HP:0000090)2.96579413
45Hepatic necrosis (HP:0002605)2.94047092
46Abnormality of the common coagulation pathway (HP:0010990)2.92141780
47Congenital stationary night blindness (HP:0007642)2.92004246
48Hyperbilirubinemia (HP:0002904)2.90401556
49Ragged-red muscle fibers (HP:0003200)2.84647338
50Joint hemorrhage (HP:0005261)2.81708278
51Hypercholesterolemia (HP:0003124)2.79930285
52Pendular nystagmus (HP:0012043)2.78127078
53Rhabdomyolysis (HP:0003201)2.77959285
54Skin nodule (HP:0200036)2.74757301
55Cholelithiasis (HP:0001081)2.72402331
56Increased serum pyruvate (HP:0003542)2.72137667
57Abnormality of glycolysis (HP:0004366)2.72137667
58* Abnormality of serum amino acid levels (HP:0003112)2.70548272
59Abnormal gallbladder morphology (HP:0012437)2.67652661
60Increased muscle lipid content (HP:0009058)2.66204807
61* Lethargy (HP:0001254)2.62998875
62Fat malabsorption (HP:0002630)2.59131388
63Cystic liver disease (HP:0006706)2.54906038
64Increased hepatocellular lipid droplets (HP:0006565)2.52539583
65Generalized aminoaciduria (HP:0002909)2.51384175
66Exercise-induced muscle cramps (HP:0003710)2.50645211
67Sclerocornea (HP:0000647)2.49441908
68Hypoplasia of the uterus (HP:0000013)2.45239530
69Abnormality of complement system (HP:0005339)2.43527621
70Renal Fanconi syndrome (HP:0001994)2.42027023
71Abnormal number of erythroid precursors (HP:0012131)2.41685178
72Abnormal gallbladder physiology (HP:0012438)2.40152184
73Cholecystitis (HP:0001082)2.40152184
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.40090477
75Abnormality of alanine metabolism (HP:0010916)2.40090477
76Hyperalaninemia (HP:0003348)2.40090477
77Abnormality of pyrimidine metabolism (HP:0004353)2.40001511
783-Methylglutaconic aciduria (HP:0003535)2.39422877
79Type II lissencephaly (HP:0007260)2.39417476
80Hepatocellular carcinoma (HP:0001402)2.38779006
81Hypoglycemic seizures (HP:0002173)2.36398295
82Abnormality of cells of the erythroid lineage (HP:0012130)2.35339467
83Hepatocellular necrosis (HP:0001404)2.34926666
84Chronic hepatic failure (HP:0100626)2.34370616
85Abnormality of the renal medulla (HP:0100957)2.32371821
86* Neonatal onset (HP:0003623)2.32063353
87Aplasia/hypoplasia of the uterus (HP:0008684)2.29918103
88Conjugated hyperbilirubinemia (HP:0002908)2.29583761
89Late onset (HP:0003584)2.29477217
90Sudden death (HP:0001699)2.29308644
91Increased serum lactate (HP:0002151)2.28881360
92* Vomiting (HP:0002013)2.28351794
93Reticulocytopenia (HP:0001896)2.24523099
94Congenital, generalized hypertrichosis (HP:0004540)2.22408417
95Optic disc pallor (HP:0000543)2.22290609
96Medial flaring of the eyebrow (HP:0010747)2.22227693
97Abnormality of the intrinsic pathway (HP:0010989)2.20552767
98Acute encephalopathy (HP:0006846)2.20413377
99Increased intramyocellular lipid droplets (HP:0012240)2.19297325
100Decreased activity of mitochondrial respiratory chain (HP:0008972)2.17385271
101Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.17385271
102Concave nail (HP:0001598)2.15662396
103Decreased electroretinogram (ERG) amplitude (HP:0000654)2.14985232
104Gout (HP:0001997)2.13070793
105Abnormality of the renal cortex (HP:0011035)2.12670795
106Abnormality of the proximal phalanges of the hand (HP:0009834)2.12020119
107Lactic acidosis (HP:0003128)2.11479650
108Abnormality of the labia minora (HP:0012880)2.10870013
109Abnormality of nucleobase metabolism (HP:0010932)2.10104033
110Hyperinsulinemic hypoglycemia (HP:0000825)2.09248007
111Abolished electroretinogram (ERG) (HP:0000550)2.08887661
112Male pseudohermaphroditism (HP:0000037)2.08743879
113Absent rod-and cone-mediated responses on ERG (HP:0007688)2.06987529
114Abnormality of the gallbladder (HP:0005264)2.06795610
115Absent thumb (HP:0009777)2.05286355
116Abnormality of urine glucose concentration (HP:0011016)2.03532486
117Glycosuria (HP:0003076)2.03532486
118* Methylmalonic aciduria (HP:0012120)2.01824792
119Mitral stenosis (HP:0001718)2.01360543
120Renal cortical cysts (HP:0000803)2.00256205
121Anencephaly (HP:0002323)2.00211610
122Aplasia/Hypoplasia of the patella (HP:0006498)1.97746259
123Aplasia/Hypoplasia of the tongue (HP:0010295)1.97246182
124Abnormal rod and cone electroretinograms (HP:0008323)1.95731948
125Abnormality of purine metabolism (HP:0004352)1.95155294
126Hydroxyprolinuria (HP:0003080)1.94426592
127Abnormality of proline metabolism (HP:0010907)1.94426592
128Spontaneous abortion (HP:0005268)1.94270402
129Spastic diplegia (HP:0001264)1.93535613
130Severe muscular hypotonia (HP:0006829)1.92685657
131Postaxial foot polydactyly (HP:0001830)1.91426375
132Respiratory failure (HP:0002878)1.90814586
133Palpitations (HP:0001962)1.87322153
134Opisthotonus (HP:0002179)1.86461603
135Lymphangioma (HP:0100764)1.85536243
136Muscle stiffness (HP:0003552)1.85002119
137Decreased central vision (HP:0007663)1.83529849
138Patellar aplasia (HP:0006443)1.83274506
139Brushfield spots (HP:0001088)1.83040831
140Steatorrhea (HP:0002570)1.82388969
141Abnormal respiratory motile cilium morphology (HP:0005938)1.82242488
142Abnormal respiratory epithelium morphology (HP:0012253)1.82242488
143Irritability (HP:0000737)1.82119993
144Macrocytic anemia (HP:0001972)1.81337394
145Abnormality of the Achilles tendon (HP:0005109)1.80657493
146Rib fusion (HP:0000902)1.79684943
147Asymmetric septal hypertrophy (HP:0001670)1.79357709
148Furrowed tongue (HP:0000221)1.78918216
149Adrenal hypoplasia (HP:0000835)1.78827092
150Meningioma (HP:0002858)1.78774513
151Delayed myelination (HP:0012448)1.78342995
152Aplasia/Hypoplasia of the spleen (HP:0010451)1.78067106
153Hyporeflexia of lower limbs (HP:0002600)1.77989505
154Abnormal ciliary motility (HP:0012262)1.77596317
155Hyperthyroidism (HP:0000836)1.77240426
156Attenuation of retinal blood vessels (HP:0007843)1.76886865
157Chorioretinal atrophy (HP:0000533)1.76073763
158Abnormal mitochondria in muscle tissue (HP:0008316)1.75893728
159Calf muscle hypertrophy (HP:0008981)1.75835200
160Increased CSF lactate (HP:0002490)1.74687785
161Lipoatrophy (HP:0100578)1.74527656
162Symphalangism affecting the phalanges of the hand (HP:0009773)1.73666833
163Lipid accumulation in hepatocytes (HP:0006561)1.73640706
164Atrioventricular block (HP:0001678)1.73466616
165Enlarged kidneys (HP:0000105)1.73330242
166Muscle hypertrophy of the lower extremities (HP:0008968)1.71465310
167Abnormality of renal resorption (HP:0011038)1.71203496
168Hypoplasia of the pons (HP:0012110)1.70542374
169Absent/shortened dynein arms (HP:0200106)1.70229191
170Dynein arm defect of respiratory motile cilia (HP:0012255)1.70229191
171Pancreatitis (HP:0001733)1.69848037
172Asplenia (HP:0001746)1.69657409
173Gait imbalance (HP:0002141)1.69572978
174Polydipsia (HP:0001959)1.69553835
175Abnormal drinking behavior (HP:0030082)1.69553835
176Cerebral palsy (HP:0100021)1.69343774
177Abnormality of cochlea (HP:0000375)1.69340866
178Abnormality of the middle phalanges of the toes (HP:0010183)1.68823234
179Hypertriglyceridemia (HP:0002155)1.68798886
180Short femoral neck (HP:0100864)1.68749525
181Retinal dysplasia (HP:0007973)1.67238073
182Status epilepticus (HP:0002133)1.66827356

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.86875056
2FRK4.30088188
3SIK14.10660763
4TRIB34.09785358
5TLK13.74266362
6PKN23.58581348
7VRK23.01945208
8ZAK2.96898189
9PHKG12.85263695
10PHKG22.85263695
11FLT32.60119059
12GRK12.44244372
13ERN12.42769943
14MAP2K42.38932156
15WNK42.34046452
16TTN2.30392398
17ADRBK22.29436045
18STK162.16334564
19MAP4K22.14234124
20MAP3K72.12647898
21SIK32.02931651
22INSRR1.84435544
23BUB11.83856230
24NUAK11.83371428
25WNK31.83057666
26NEK11.83027809
27DYRK21.82654624
28VRK11.79966399
29BMPR1B1.76672518
30FGFR41.73903075
31MAP3K131.71707579
32SIK21.67151386
33LATS21.57128007
34EPHA41.55154452
35OBSCN1.45078107
36LMTK21.44429154
37NME11.41145606
38PIK3CA1.38150659
39PINK11.37658534
40CSNK1G31.34318433
41TESK21.32058005
42STK391.28473244
43CSNK1G21.24168830
44CDC71.23061799
45MUSK1.23008313
46MAP2K31.21200132
47PDK31.18628905
48PDK41.18628905
49LIMK11.15747254
50PLK41.15583349
51CASK1.15162851
52MARK11.14920364
53MAPKAPK31.13783873
54MAPK111.13456224
55MAP3K61.12648819
56PAK61.11809967
57CSNK1G11.11763564
58DAPK21.10598567
59MYLK1.09699006
60MINK11.05607685
61PLK11.04518594
62OXSR11.02362883
63MAPK151.01860690
64STK38L0.99225979
65PRKD30.97959851
66AURKA0.97905951
67MAP3K90.95799381
68CSNK1A1L0.95699680
69TAOK20.95220647
70RET0.93609806
71MAP2K60.91518908
72PRKAA20.90790467
73ABL20.90075778
74SRPK10.89143663
75PAK30.88320571
76RPS6KA50.87031755
77ILK0.86518333
78PDGFRA0.86447337
79MAPK120.84520706
80MAP3K120.83650774
81ATR0.83365209
82TIE10.83265461
83MAP3K40.83126035
84MAPKAPK50.81996837
85DMPK0.81898380
86CDK190.81725702
87CAMK1D0.81653430
88NME20.81329671
89ADRBK10.79649417
90RIPK10.78640907
91MAP2K20.75716199
92TNIK0.75144409
93STK240.72898650
94NTRK10.72680427
95MAP3K110.72095410
96PIM20.71906381
97PRKCI0.71242731
98MAP3K50.71069565
99ACVR1B0.69201387
100CAMK10.68923430
101PLK30.68898401
102DYRK30.67399092
103PDK20.67311820
104PRKAA10.66981599
105LATS10.64877422
106CAMKK10.64651994
107CHEK20.64210610
108CSNK1A10.63385479
109NTRK30.62052538
110KSR20.61402739
111PLK20.60614135
112CAMK40.60539883
113NEK20.59275413
114CSNK2A10.57773743
115PRKACA0.57535857
116TAF10.56769124
117PIK3CG0.54970562
118PTK60.54563108
119PRKCH0.54288100
120WEE10.54070362
121AURKB0.52787470
122DAPK30.52459855
123DAPK10.52454802
124MAP2K70.51368329
125EPHB10.50986396
126PRKD10.50702688
127PRPF4B0.49692845
128STK380.49669519
129PRKACG0.49550043
130CSNK2A20.48956482
131KSR10.48824455
132IKBKB0.48693602
133PRKCZ0.47785037
134CCNB10.47508119
135PRKCE0.45719576
136PKN10.45513246
137CDK80.45474363
138CAMK1G0.44280013
139BRSK20.43065548
140PRKCQ0.41325525
141CDK40.40978558
142AKT20.40755517
143BRSK10.40201981
144MAPK40.39903141
145EEF2K0.39567626
146MAP2K10.39436766
147PRKCA0.39361985
148TXK0.39358882
149PAK40.39264548
150TGFBR10.38052850
151FGFR20.36996847
152CAMK2A0.36996152
153NTRK20.36610801
154GRK50.36238534
155UHMK10.33279733
156TAOK30.33108815
157MARK20.31600807
158RAF10.29899454
159KDR0.29367425
160MAPK130.29303762
161PDPK10.28668460
162ERBB40.28292218
163ICK0.28044889
164FGFR10.27310457
165EPHB20.26639375
166MAP3K100.26503701
167PRKCG0.25795135
168CAMK2G0.24968509

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.72196123
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.49706425
3Nitrogen metabolism_Homo sapiens_hsa009103.26583198
4Fatty acid degradation_Homo sapiens_hsa000713.10761576
5Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.05742311
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.99311704
7Propanoate metabolism_Homo sapiens_hsa006402.97536950
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.89345893
9Arginine biosynthesis_Homo sapiens_hsa002202.83972045
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.81654011
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.79041117
12Ribosome_Homo sapiens_hsa030102.78454565
13Tryptophan metabolism_Homo sapiens_hsa003802.59760209
14Butanoate metabolism_Homo sapiens_hsa006502.59411705
15Fatty acid metabolism_Homo sapiens_hsa012122.46485044
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.36471202
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.24972074
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.21978423
19Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.16294779
20Peroxisome_Homo sapiens_hsa041462.05773812
21PPAR signaling pathway_Homo sapiens_hsa033202.01952130
22RNA polymerase_Homo sapiens_hsa030201.94156479
23Homologous recombination_Homo sapiens_hsa034401.92953484
24Complement and coagulation cascades_Homo sapiens_hsa046101.91377928
25Pyruvate metabolism_Homo sapiens_hsa006201.87803819
26Protein export_Homo sapiens_hsa030601.87373635
27Carbon metabolism_Homo sapiens_hsa012001.80922240
28beta-Alanine metabolism_Homo sapiens_hsa004101.77693366
29Pentose and glucuronate interconversions_Homo sapiens_hsa000401.77493665
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.73772059
31Proteasome_Homo sapiens_hsa030501.61084455
32Phototransduction_Homo sapiens_hsa047441.55434486
33Fatty acid elongation_Homo sapiens_hsa000621.53541077
34Biosynthesis of amino acids_Homo sapiens_hsa012301.53231597
35Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.48987567
36Steroid hormone biosynthesis_Homo sapiens_hsa001401.46015013
37Fanconi anemia pathway_Homo sapiens_hsa034601.45968146
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.45541659
39Chemical carcinogenesis_Homo sapiens_hsa052041.42472805
40Linoleic acid metabolism_Homo sapiens_hsa005911.42066803
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.40214603
42Bile secretion_Homo sapiens_hsa049761.39392811
43DNA replication_Homo sapiens_hsa030301.35934976
44Drug metabolism - other enzymes_Homo sapiens_hsa009831.32725394
45Base excision repair_Homo sapiens_hsa034101.32697958
46Histidine metabolism_Homo sapiens_hsa003401.32471419
47Starch and sucrose metabolism_Homo sapiens_hsa005001.31019066
48Phenylalanine metabolism_Homo sapiens_hsa003601.29110601
49Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.28510576
50Steroid biosynthesis_Homo sapiens_hsa001001.25750548
51Caffeine metabolism_Homo sapiens_hsa002321.23251874
52Pyrimidine metabolism_Homo sapiens_hsa002401.22348067
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.22188350
54Tyrosine metabolism_Homo sapiens_hsa003501.18226125
55Cysteine and methionine metabolism_Homo sapiens_hsa002701.13690034
56Mismatch repair_Homo sapiens_hsa034301.12118228
57Nucleotide excision repair_Homo sapiens_hsa034201.07035632
58Retinol metabolism_Homo sapiens_hsa008301.04619304
59Arginine and proline metabolism_Homo sapiens_hsa003301.01263936
60Sulfur metabolism_Homo sapiens_hsa009200.98196299
61Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.97721873
62Nicotine addiction_Homo sapiens_hsa050330.97520403
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.97370409
64Staphylococcus aureus infection_Homo sapiens_hsa051500.95165033
65RNA degradation_Homo sapiens_hsa030180.91601002
66Selenocompound metabolism_Homo sapiens_hsa004500.90574138
67Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89411151
68Lysine degradation_Homo sapiens_hsa003100.89128470
69Fat digestion and absorption_Homo sapiens_hsa049750.88926338
70Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88629730
71* Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87342847
72Fatty acid biosynthesis_Homo sapiens_hsa000610.86645848
73Purine metabolism_Homo sapiens_hsa002300.86323479
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.82705032
75ABC transporters_Homo sapiens_hsa020100.82548118
76Basal transcription factors_Homo sapiens_hsa030220.82030125
77Folate biosynthesis_Homo sapiens_hsa007900.77681876
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.75782735
79Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.71906586
80Sulfur relay system_Homo sapiens_hsa041220.70307588
81Arachidonic acid metabolism_Homo sapiens_hsa005900.65571062
82Glycerolipid metabolism_Homo sapiens_hsa005610.61102643
83Pentose phosphate pathway_Homo sapiens_hsa000300.60868250
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.59217905
85Ether lipid metabolism_Homo sapiens_hsa005650.58104598
86Basal cell carcinoma_Homo sapiens_hsa052170.53418057
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52634736
88Collecting duct acid secretion_Homo sapiens_hsa049660.52627079
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52226556
90Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.51663932
91Insulin resistance_Homo sapiens_hsa049310.49880338
92Galactose metabolism_Homo sapiens_hsa000520.48154636
93Adipocytokine signaling pathway_Homo sapiens_hsa049200.48083853
94One carbon pool by folate_Homo sapiens_hsa006700.47111887
95* Metabolic pathways_Homo sapiens_hsa011000.45643857
96Parkinsons disease_Homo sapiens_hsa050120.44055506
97Olfactory transduction_Homo sapiens_hsa047400.43452438
98Glucagon signaling pathway_Homo sapiens_hsa049220.43309607
99Cardiac muscle contraction_Homo sapiens_hsa042600.43122287
100Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.41531992
101Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.40455378
102Fructose and mannose metabolism_Homo sapiens_hsa000510.39820852
103Spliceosome_Homo sapiens_hsa030400.36657365
104Hedgehog signaling pathway_Homo sapiens_hsa043400.34283872
105Morphine addiction_Homo sapiens_hsa050320.33809456
106Glutathione metabolism_Homo sapiens_hsa004800.32713943
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32071174
108Insulin signaling pathway_Homo sapiens_hsa049100.30980609
109AMPK signaling pathway_Homo sapiens_hsa041520.30855118
110Oxidative phosphorylation_Homo sapiens_hsa001900.29709390
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.23861020
112Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.23052338
113Maturity onset diabetes of the young_Homo sapiens_hsa049500.22774298
114Alzheimers disease_Homo sapiens_hsa050100.22638174
115Prion diseases_Homo sapiens_hsa050200.21690134
116Dilated cardiomyopathy_Homo sapiens_hsa054140.19558952
117Vitamin B6 metabolism_Homo sapiens_hsa007500.18434353
118Vitamin digestion and absorption_Homo sapiens_hsa049770.17057497
119Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.11873596
120Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.05881939
121GABAergic synapse_Homo sapiens_hsa047270.05695446
122Aldosterone synthesis and secretion_Homo sapiens_hsa049250.04808795
123Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.02845685
124Ovarian steroidogenesis_Homo sapiens_hsa049130.02532708
125alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0743225
126Calcium signaling pathway_Homo sapiens_hsa04020-0.0730252
127Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0607999
128Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412-0.0535749
129Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0527590
130Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.0380746
131Type II diabetes mellitus_Homo sapiens_hsa04930-0.0280599
132Huntingtons disease_Homo sapiens_hsa05016-0.0268761
133Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0230266
134Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.0171651

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