MMACHC

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.88812455
2ATP synthesis coupled proton transport (GO:0015986)6.04396558
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.04396558
4chaperone-mediated protein transport (GO:0072321)5.97551144
5histone H3-K4 trimethylation (GO:0080182)5.57732548
6establishment of protein localization to mitochondrial membrane (GO:0090151)5.54467493
7ribosomal small subunit biogenesis (GO:0042274)5.38253867
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.31535684
9viral transcription (GO:0019083)5.12833768
10translational termination (GO:0006415)4.94913548
11rRNA modification (GO:0000154)4.88703984
12protein complex biogenesis (GO:0070271)4.85227757
13respiratory electron transport chain (GO:0022904)4.83290100
14transcription elongation from RNA polymerase III promoter (GO:0006385)4.80201244
15termination of RNA polymerase III transcription (GO:0006386)4.80201244
16electron transport chain (GO:0022900)4.79035194
17mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.77658176
18mitochondrial respiratory chain complex I assembly (GO:0032981)4.77658176
19NADH dehydrogenase complex assembly (GO:0010257)4.77658176
20mitochondrial respiratory chain complex assembly (GO:0033108)4.74351177
21rRNA methylation (GO:0031167)4.49434511
22presynaptic membrane assembly (GO:0097105)4.45517669
23behavioral response to nicotine (GO:0035095)4.39641772
24ribosomal large subunit biogenesis (GO:0042273)4.32696692
25SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.31497143
26cotranslational protein targeting to membrane (GO:0006613)4.29411321
27protein targeting to ER (GO:0045047)4.26183342
28maturation of SSU-rRNA (GO:0030490)4.24550108
29ribosomal small subunit assembly (GO:0000028)4.20254853
30pseudouridine synthesis (GO:0001522)4.19590591
31DNA replication checkpoint (GO:0000076)4.14216724
32translational elongation (GO:0006414)4.13937002
33establishment of protein localization to endoplasmic reticulum (GO:0072599)4.07868566
34proteasome assembly (GO:0043248)3.99354053
35exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.97524007
36protein localization to endoplasmic reticulum (GO:0070972)3.96645041
37presynaptic membrane organization (GO:0097090)3.89068535
38regulation of mitochondrial translation (GO:0070129)3.88508166
39nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.88272933
40respiratory chain complex IV assembly (GO:0008535)3.84338923
41translation (GO:0006412)3.73317398
42cytochrome complex assembly (GO:0017004)3.70491273
43viral life cycle (GO:0019058)3.67255543
44cellular protein complex disassembly (GO:0043624)3.65326007
45translational initiation (GO:0006413)3.63227592
46protein neddylation (GO:0045116)3.60878531
47startle response (GO:0001964)3.56189840
48cellular component biogenesis (GO:0044085)3.55338812
49protein targeting to mitochondrion (GO:0006626)3.54529169
50positive regulation of protein sumoylation (GO:0033235)3.54514098
51chromatin remodeling at centromere (GO:0031055)3.54360968
52sulfation (GO:0051923)3.52939818
53rRNA processing (GO:0006364)3.52421720
54nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.52309186
55DNA deamination (GO:0045006)3.50694580
56CENP-A containing nucleosome assembly (GO:0034080)3.47801915
57cellular response to ATP (GO:0071318)3.45764580
58rRNA metabolic process (GO:0016072)3.44696702
59establishment of protein localization to mitochondrion (GO:0072655)3.41508775
60intracellular protein transmembrane import (GO:0044743)3.38900120
61ribonucleoprotein complex biogenesis (GO:0022613)3.38674754
62mesenchymal-epithelial cell signaling (GO:0060638)3.35247720
63hydrogen ion transmembrane transport (GO:1902600)3.31306556
64ATP biosynthetic process (GO:0006754)3.30205764
65protein localization to mitochondrion (GO:0070585)3.25520709
66mitochondrion morphogenesis (GO:0070584)3.23213044
67histone H3-K4 methylation (GO:0051568)3.20168340
68postsynaptic membrane organization (GO:0001941)3.18335886
69ionotropic glutamate receptor signaling pathway (GO:0035235)3.18327586
70regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.18245406
71maturation of 5.8S rRNA (GO:0000460)3.17701080
72regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.16763356
73regulation of mitotic spindle checkpoint (GO:1903504)3.16763356
74peptidyl-lysine trimethylation (GO:0018023)3.13176454
75regulation of non-canonical Wnt signaling pathway (GO:2000050)3.09393319
76purine nucleoside triphosphate biosynthetic process (GO:0009145)3.07881777
77protein-cofactor linkage (GO:0018065)3.07729593
78tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.05010670
79RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.05010670
80tRNA processing (GO:0008033)3.03561527
81synaptic transmission, glutamatergic (GO:0035249)3.03475531
82spliceosomal snRNP assembly (GO:0000387)3.03409358
83protein K6-linked ubiquitination (GO:0085020)3.01893635
84purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.01804752
85transcription elongation from RNA polymerase I promoter (GO:0006362)2.99592600
86histone exchange (GO:0043486)2.99105686
87protein complex disassembly (GO:0043241)2.98980627
88proton transport (GO:0015992)2.95359503
89mesenchymal cell differentiation (GO:0048762)2.93757617
90regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.92377256
91transcription from RNA polymerase I promoter (GO:0006360)2.90898692
92hydrogen transport (GO:0006818)2.89698664
93nuclear-transcribed mRNA catabolic process (GO:0000956)2.89163937
94negative regulation of synaptic transmission, GABAergic (GO:0032229)2.87953461
95macromolecular complex disassembly (GO:0032984)2.86667769
96regulation of gene silencing by RNA (GO:0060966)2.86612290
97regulation of posttranscriptional gene silencing (GO:0060147)2.86612290
98regulation of gene silencing by miRNA (GO:0060964)2.86612290
99glutamate receptor signaling pathway (GO:0007215)2.86153906
100membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.85655026
101calcium ion import (GO:0070509)2.85539712
102G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.85331055
103spliceosomal complex assembly (GO:0000245)2.84828776
104ncRNA processing (GO:0034470)2.84094914
105regulation of DNA endoreduplication (GO:0032875)2.83832209
106negative regulation of translation, ncRNA-mediated (GO:0040033)2.82661058
107regulation of translation, ncRNA-mediated (GO:0045974)2.82661058
108negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.82661058
109regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.81559670
110mesenchymal cell differentiation involved in kidney development (GO:0072161)2.80114164
111mesenchymal cell differentiation involved in renal system development (GO:2001012)2.80114164
112inner ear receptor stereocilium organization (GO:0060122)2.79868144
113mitochondrial transport (GO:0006839)2.79145224
114negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.77313165
115ncRNA metabolic process (GO:0034660)2.76235976
116termination of RNA polymerase I transcription (GO:0006363)2.75802867
117mRNA catabolic process (GO:0006402)2.75475435
118urinary tract smooth muscle contraction (GO:0014848)2.75431673
119pharyngeal system development (GO:0060037)2.74877228
120neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.74462865
121detection of calcium ion (GO:0005513)2.73882589
122cranial nerve structural organization (GO:0021604)2.73341811
123peptidyl-histidine modification (GO:0018202)2.73034430
124detection of light stimulus involved in visual perception (GO:0050908)2.71915164
125detection of light stimulus involved in sensory perception (GO:0050962)2.71915164
126recombinational repair (GO:0000725)2.71867760
127transcription from RNA polymerase III promoter (GO:0006383)2.71041102
128replication fork processing (GO:0031297)2.70891818
129double-strand break repair via homologous recombination (GO:0000724)2.70581735
130negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.70328412
131ribonucleoside triphosphate biosynthetic process (GO:0009201)2.68880375
132protein targeting to membrane (GO:0006612)2.68004290
133somite development (GO:0061053)2.66567705
134negative regulation of osteoblast proliferation (GO:0033689)2.66557194
135lateral sprouting from an epithelium (GO:0060601)2.66464374
136inner mitochondrial membrane organization (GO:0007007)2.65577512
137sequestering of extracellular ligand from receptor (GO:0035581)2.64386122
138cyclic nucleotide catabolic process (GO:0009214)2.63986458
139response to redox state (GO:0051775)2.63983775
140regulation of timing of cell differentiation (GO:0048505)2.63679109
141cAMP catabolic process (GO:0006198)2.62904653
142regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.58168045
143interkinetic nuclear migration (GO:0022027)2.57163430
144positive regulation of cellular amide metabolic process (GO:0034250)2.57152657
145inner ear receptor cell development (GO:0060119)2.55854151
146eye photoreceptor cell development (GO:0042462)2.55488758
147extracellular regulation of signal transduction (GO:1900115)2.54859627
148extracellular negative regulation of signal transduction (GO:1900116)2.54859627
149male sex determination (GO:0030238)2.54642612
150photoreceptor cell maintenance (GO:0045494)2.51448650
151regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.48256685
152cerebellar Purkinje cell differentiation (GO:0021702)2.45543157
153response to epinephrine (GO:0071871)2.45327649
154negative regulation of DNA-dependent DNA replication (GO:2000104)2.44116978
155import into cell (GO:0098657)2.44071166
156prostate gland growth (GO:0060736)2.43451392
157limb development (GO:0060173)2.41037194
158appendage development (GO:0048736)2.41037194
159auditory receptor cell stereocilium organization (GO:0060088)2.40698871
160regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.40678857
161regulation of pigment cell differentiation (GO:0050932)2.38453443
162developmental pigmentation (GO:0048066)2.38359711
163spinal cord motor neuron differentiation (GO:0021522)2.38189724
164photoreceptor cell development (GO:0042461)2.35054549
165regulation of nuclear cell cycle DNA replication (GO:0033262)2.34392057
166neuron-neuron synaptic transmission (GO:0007270)2.34066683
167limb bud formation (GO:0060174)2.33607407
168regulation of skeletal muscle contraction (GO:0014819)2.33596319
169regulation of keratinocyte proliferation (GO:0010837)2.32358079
170replicative senescence (GO:0090399)2.31183124
171positive regulation of action potential (GO:0045760)2.30655276
172lactate metabolic process (GO:0006089)2.30201893
173cell differentiation involved in kidney development (GO:0061005)2.29409544
174anatomical structure arrangement (GO:0048532)2.28040891
175negative regulation of keratinocyte proliferation (GO:0010839)2.27463234
176ganglion development (GO:0061548)2.27080744
177G-protein coupled receptor internalization (GO:0002031)2.26258011
178adenine nucleotide transport (GO:0051503)2.24324307
179sarcoplasmic reticulum calcium ion transport (GO:0070296)2.23400325
180cellular response to epinephrine stimulus (GO:0071872)2.21612583
181neurotransmitter-gated ion channel clustering (GO:0072578)2.21380748
182negative regulation of exocytosis (GO:0045920)2.20460039
183dendrite development (GO:0016358)2.19470957
184eye photoreceptor cell differentiation (GO:0001754)2.19317694
185photoreceptor cell differentiation (GO:0046530)2.19317694
186membrane depolarization during action potential (GO:0086010)2.19208738
187poly(A)+ mRNA export from nucleus (GO:0016973)2.18552460
188protein heterotetramerization (GO:0051290)2.17902106
189positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.17804466
190central nervous system projection neuron axonogenesis (GO:0021952)2.17293996
191reflex (GO:0060004)2.16942988
192retina layer formation (GO:0010842)2.16903418
193regulation of development, heterochronic (GO:0040034)2.16322710
194epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.15981379
195cell differentiation involved in metanephros development (GO:0072202)2.15722670
196dendrite morphogenesis (GO:0048813)2.15110917
197daunorubicin metabolic process (GO:0044597)2.14838309
198doxorubicin metabolic process (GO:0044598)2.14838309

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.91712478
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.76519127
3GBX2_23144817_ChIP-Seq_PC3_Human4.43323825
4* EST1_17652178_ChIP-ChIP_JURKAT_Human4.43200360
5EZH2_22144423_ChIP-Seq_EOC_Human3.90993290
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.84616546
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.66870642
8* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.57217004
9* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.55441372
10* ETS1_20019798_ChIP-Seq_JURKAT_Human3.31768639
11* MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.27220291
12MYC_18555785_ChIP-Seq_MESCs_Mouse3.23408434
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.85625575
14* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.78036346
15ELK1_19687146_ChIP-ChIP_HELA_Human2.76325476
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.73071552
17SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.70358393
18* VDR_23849224_ChIP-Seq_CD4+_Human2.52676956
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.48658475
20ZFP57_27257070_Chip-Seq_ESCs_Mouse2.38626623
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.35313343
22MYC_18940864_ChIP-ChIP_HL60_Human2.32904896
23FOXP3_21729870_ChIP-Seq_TREG_Human2.25112284
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.19587245
25SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.18959302
26* HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.15125230
27FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.14349605
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.14069718
29POU3F2_20337985_ChIP-ChIP_501MEL_Human2.12249111
30* SRF_21415370_ChIP-Seq_HL-1_Mouse2.11576956
31XRN2_22483619_ChIP-Seq_HELA_Human2.09877278
32SMAD_19615063_ChIP-ChIP_OVARY_Human2.07398138
33* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.05328607
34PCGF2_27294783_Chip-Seq_ESCs_Mouse2.04473645
35* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.04045147
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.02564504
37NOTCH1_21737748_ChIP-Seq_TLL_Human1.99440829
38FLI1_27457419_Chip-Seq_LIVER_Mouse1.96988918
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.95710283
40* TTF2_22483619_ChIP-Seq_HELA_Human1.94278095
41SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.93332126
42EED_16625203_ChIP-ChIP_MESCs_Mouse1.92904514
43ZNF274_21170338_ChIP-Seq_K562_Hela1.90987297
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.90777437
45SUZ12_27294783_Chip-Seq_NPCs_Mouse1.89919688
46SMAD4_21799915_ChIP-Seq_A2780_Human1.88521985
47DCP1A_22483619_ChIP-Seq_HELA_Human1.87695096
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.87318183
49SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.84669389
50P300_19829295_ChIP-Seq_ESCs_Human1.84145403
51* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83354656
52SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.81219049
53JARID2_20064375_ChIP-Seq_MESCs_Mouse1.80371454
54PCGF2_27294783_Chip-Seq_NPCs_Mouse1.78130590
55SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.76730098
56NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.72324031
57NFE2_27457419_Chip-Seq_LIVER_Mouse1.70885939
58DROSHA_22980978_ChIP-Seq_HELA_Human1.69433979
59NANOG_18555785_Chip-Seq_ESCs_Mouse1.69131028
60TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.68654667
61VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.67880135
62EZH2_27304074_Chip-Seq_ESCs_Mouse1.66413306
63RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.65430189
64EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.65428452
65YY1_21170310_ChIP-Seq_MESCs_Mouse1.65356376
66FUS_26573619_Chip-Seq_HEK293_Human1.64151625
67TAF15_26573619_Chip-Seq_HEK293_Human1.64033274
68STAT3_23295773_ChIP-Seq_U87_Human1.62604848
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.62486102
70E2F1_18555785_Chip-Seq_ESCs_Mouse1.61333461
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.59887302
72FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.58234009
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.56441798
74CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55658176
75ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.55656737
76SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.53756052
77SMAD3_21741376_ChIP-Seq_EPCs_Human1.53198986
78P53_22387025_ChIP-Seq_ESCs_Mouse1.53004519
79BMI1_23680149_ChIP-Seq_NPCS_Mouse1.52073942
80JARID2_20075857_ChIP-Seq_MESCs_Mouse1.51420055
81E2F7_22180533_ChIP-Seq_HELA_Human1.50439314
82TCF4_23295773_ChIP-Seq_U87_Human1.49130311
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49105615
84POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.49105615
85AR_21572438_ChIP-Seq_LNCaP_Human1.48745670
86EZH2_27294783_Chip-Seq_NPCs_Mouse1.48215794
87GABP_19822575_ChIP-Seq_HepG2_Human1.48061540
88* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.47433026
89ELF1_17652178_ChIP-ChIP_JURKAT_Human1.46743455
90EZH2_18974828_ChIP-Seq_MESCs_Mouse1.46304167
91RNF2_18974828_ChIP-Seq_MESCs_Mouse1.46304167
92SUZ12_18555785_Chip-Seq_ESCs_Mouse1.45980728
93ZNF217_24962896_ChIP-Seq_MCF-7_Human1.45950726
94RNF2_27304074_Chip-Seq_ESCs_Mouse1.44817711
95YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44772217
96* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44103879
97CBX2_27304074_Chip-Seq_ESCs_Mouse1.43940396
98CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.42294586
99STAT3_18555785_Chip-Seq_ESCs_Mouse1.41292618
100CMYC_18555785_Chip-Seq_ESCs_Mouse1.41017460
101TP53_16413492_ChIP-PET_HCT116_Human1.40658578
102VDR_22108803_ChIP-Seq_LS180_Human1.40238003
103RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39551407
104MTF2_20144788_ChIP-Seq_MESCs_Mouse1.38977524
105CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37644226
106POU5F1_16153702_ChIP-ChIP_HESCs_Human1.36837573
107MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.36725072
108ARNT_22903824_ChIP-Seq_MCF-7_Human1.35988431
109EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.34359904
110AHR_22903824_ChIP-Seq_MCF-7_Human1.34285353
111TP53_18474530_ChIP-ChIP_U2OS_Human1.33798031
112P300_18555785_Chip-Seq_ESCs_Mouse1.33759820
113NR3C1_21868756_ChIP-Seq_MCF10A_Human1.33558085
114ELK1_22589737_ChIP-Seq_MCF10A_Human1.32859842
115EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31544954
116PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.31144430
117AR_25329375_ChIP-Seq_VCAP_Human1.30936553
118SOX2_18555785_Chip-Seq_ESCs_Mouse1.30822073
119NMYC_18555785_Chip-Seq_ESCs_Mouse1.30790537
120TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30289177
121* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.30150734
122TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.29601492
123SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29593320
124EWS_26573619_Chip-Seq_HEK293_Human1.28595945
125SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.28570178
126CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26664173
127OCT4_18555785_Chip-Seq_ESCs_Mouse1.25914777
128ER_23166858_ChIP-Seq_MCF-7_Human1.24925221
129PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.24576505
130CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.24530183
131RUNX1_27457419_Chip-Seq_LIVER_Mouse1.24444168
132OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23103824
133ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.22889019
134PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22436826
135SOX2_16153702_ChIP-ChIP_HESCs_Human1.21310937
136POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.20971836
137NANOG_16153702_ChIP-ChIP_HESCs_Human1.20236983
138PU1_27457419_Chip-Seq_LIVER_Mouse1.19986040
139CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.19611286
140EZH2_27294783_Chip-Seq_ESCs_Mouse1.19186347
141RUNX2_22187159_ChIP-Seq_PCA_Human1.18686802
142MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.18031713
143SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17834134
144E2F1_21310950_ChIP-Seq_MCF-7_Human1.17484063
145HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.16812732
146ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.16399300
147TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15813793
148UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.15264396
149CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.14972144
150ZFX_18555785_Chip-Seq_ESCs_Mouse1.14288498
151TP63_19390658_ChIP-ChIP_HaCaT_Human1.12799228
152SOX2_21211035_ChIP-Seq_LN229_Gbm1.12646876
153FOXM1_23109430_ChIP-Seq_U2OS_Human1.11171740
154LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11097486
155ESRRB_18555785_Chip-Seq_ESCs_Mouse1.10991058
156HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.10617230
157* TP53_22573176_ChIP-Seq_HFKS_Human1.10263309
158NELFA_20434984_ChIP-Seq_ESCs_Mouse1.10180841
159SUZ12_27294783_Chip-Seq_ESCs_Mouse1.09139614
160BCAT_22108803_ChIP-Seq_LS180_Human1.09099156
161CTCF_18555785_Chip-Seq_ESCs_Mouse1.08874618
162POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.06269373
163TDRD3_21172665_ChIP-Seq_MCF-7_Human1.05932353
164HOXB4_20404135_ChIP-ChIP_EML_Mouse1.01012924
165IRF1_19129219_ChIP-ChIP_H3396_Human0.98723791
166KDM5A_27292631_Chip-Seq_BREAST_Human0.98095197
167* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97720133
168STAT6_21828071_ChIP-Seq_BEAS2B_Human0.94419506
169EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.93644733
170BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.90909634
171FOXA1_25329375_ChIP-Seq_VCAP_Human0.87959087
172FOXA1_27270436_Chip-Seq_PROSTATE_Human0.87959087
173GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.85676461
174NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.85206554
175AUTS2_25519132_ChIP-Seq_293T-REX_Human0.84097434
176NCOR_22424771_ChIP-Seq_293T_Human0.81231024
177AR_20517297_ChIP-Seq_VCAP_Human0.81052978
178SOX2_18555785_ChIP-Seq_MESCs_Mouse0.80483141
179EGR1_23403033_ChIP-Seq_LIVER_Mouse0.79063152
180P53_21459846_ChIP-Seq_SAOS-2_Human0.78835040
181SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75683078
182ERG_20517297_ChIP-Seq_VCAP_Human0.75408083
183ELF5_23300383_ChIP-Seq_T47D_Human0.74694821
184CBP_20019798_ChIP-Seq_JUKART_Human0.73596987

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.09282931
2MP0000566_synostosis3.93529613
3MP0003787_abnormal_imprinting3.59839571
4MP0005409_darkened_coat_color3.08155541
5MP0005171_absent_coat_pigmentation3.00561312
6MP0003806_abnormal_nucleotide_metabolis2.81975937
7MP0003693_abnormal_embryo_hatching2.81673119
8MP0001188_hyperpigmentation2.70554977
9MP0006292_abnormal_olfactory_placode2.64516777
10MP0003136_yellow_coat_color2.52812671
11MP0003718_maternal_effect2.39832163
12MP0005646_abnormal_pituitary_gland2.26940677
13MP0005174_abnormal_tail_pigmentation2.26684775
14MP0003045_fibrosis2.25455416
15MP0003195_calcinosis2.23089314
16MP0008058_abnormal_DNA_repair2.15940355
17MP0002735_abnormal_chemical_nociception2.13927037
18MP0002160_abnormal_reproductive_system2.13681672
19MP0001986_abnormal_taste_sensitivity2.11671359
20MP0001486_abnormal_startle_reflex2.10563228
21MP0002876_abnormal_thyroid_physiology2.04582848
22MP0003183_abnormal_peptide_metabolism2.04419729
23MP0010094_abnormal_chromosome_stability2.04405423
24MP0004957_abnormal_blastocyst_morpholog2.04356884
25MP0002938_white_spotting1.96587451
26MP0005503_abnormal_tendon_morphology1.95571996
27MP0009780_abnormal_chondrocyte_physiolo1.92371915
28MP0002837_dystrophic_cardiac_calcinosis1.90459089
29MP0000569_abnormal_digit_pigmentation1.87726315
30MP0005257_abnormal_intraocular_pressure1.85767361
31MP0001299_abnormal_eye_distance/1.82744483
32MP0003111_abnormal_nucleus_morphology1.82643219
33MP0005670_abnormal_white_adipose1.81232550
34MP0008872_abnormal_physiological_respon1.76509225
35MP0008875_abnormal_xenobiotic_pharmacok1.75730615
36MP0005084_abnormal_gallbladder_morpholo1.72379610
37MP0004859_abnormal_synaptic_plasticity1.67913275
38MP0001502_abnormal_circadian_rhythm1.67526757
39MP0003011_delayed_dark_adaptation1.66987419
40MP0005551_abnormal_eye_electrophysiolog1.63417346
41MP0001501_abnormal_sleep_pattern1.63017576
42MP0005645_abnormal_hypothalamus_physiol1.62689099
43MP0005389_reproductive_system_phenotype1.60800210
44MP0006036_abnormal_mitochondrial_physio1.60499119
45MP0006072_abnormal_retinal_apoptosis1.59201918
46MP0002638_abnormal_pupillary_reflex1.52420920
47MP0009745_abnormal_behavioral_response1.52368852
48MP0003950_abnormal_plasma_membrane1.49688028
49MP0003646_muscle_fatigue1.47076238
50MP0003880_abnormal_central_pattern1.45453006
51MP0001293_anophthalmia1.45304733
52MP0002102_abnormal_ear_morphology1.44542789
53MP0003077_abnormal_cell_cycle1.42477148
54MP0002572_abnormal_emotion/affect_behav1.39868616
55MP0003186_abnormal_redox_activity1.39713699
56MP0005253_abnormal_eye_physiology1.37490783
57MP0001440_abnormal_grooming_behavior1.35427668
58MP0009046_muscle_twitch1.34618854
59MP0004215_abnormal_myocardial_fiber1.33759697
60MP0003941_abnormal_skin_development1.33534643
61MP0010386_abnormal_urinary_bladder1.32743930
62MP0008007_abnormal_cellular_replicative1.31483059
63MP0003635_abnormal_synaptic_transmissio1.27824485
64MP0002067_abnormal_sensory_capabilities1.27658381
65MP0000015_abnormal_ear_pigmentation1.26499564
66MP0004145_abnormal_muscle_electrophysio1.26268512
67MP0005377_hearing/vestibular/ear_phenot1.25188438
68MP0003878_abnormal_ear_physiology1.25188438
69MP0005332_abnormal_amino_acid1.22697116
70MP0001968_abnormal_touch/_nociception1.22513848
71MP0002557_abnormal_social/conspecific_i1.21411510
72MP0001984_abnormal_olfaction1.20547934
73MP0001919_abnormal_reproductive_system1.20354529
74MP0003868_abnormal_feces_composition1.18925550
75MP0002272_abnormal_nervous_system1.18813206
76MP0002138_abnormal_hepatobiliary_system1.18769252
77MP0001177_atelectasis1.18203135
78MP0004134_abnormal_chest_morphology1.17324282
79MP0000678_abnormal_parathyroid_gland1.17078235
80MP0003122_maternal_imprinting1.16206606
81MP0000462_abnormal_digestive_system1.15497240
82MP0002064_seizures1.14185716
83MP0000049_abnormal_middle_ear1.14027722
84MP0001905_abnormal_dopamine_level1.13775524
85MP0009697_abnormal_copulation1.12692338
86MP0009250_abnormal_appendicular_skeleto1.12609375
87MP0005379_endocrine/exocrine_gland_phen1.11894463
88MP0003937_abnormal_limbs/digits/tail_de1.11525658
89MP0004142_abnormal_muscle_tone1.11510473
90MP0004885_abnormal_endolymph1.09878678
91MP0003786_premature_aging1.08583849
92MP0002063_abnormal_learning/memory/cond1.08548278
93MP0002653_abnormal_ependyma_morphology1.07794025
94MP0002736_abnormal_nociception_after1.07688630
95MP0006035_abnormal_mitochondrial_morpho1.07615407
96MP0000751_myopathy1.07384224
97MP0001963_abnormal_hearing_physiology1.07048763
98MP0001661_extended_life_span1.04919539
99MP0002277_abnormal_respiratory_mucosa1.03864429
100MP0008877_abnormal_DNA_methylation1.02675657
101MP0001485_abnormal_pinna_reflex1.01893413
102MP0000579_abnormal_nail_morphology0.99989365
103MP0000778_abnormal_nervous_system0.99882210
104MP0003890_abnormal_embryonic-extraembry0.99562610
105MP0003121_genomic_imprinting0.98498696
106MP0002210_abnormal_sex_determination0.98137230
107MP0002108_abnormal_muscle_morphology0.98040344
108MP0000026_abnormal_inner_ear0.97753863
109MP0008932_abnormal_embryonic_tissue0.97423311
110MP0001764_abnormal_homeostasis0.96867105
111MP0004133_heterotaxia0.96241101
112MP0003567_abnormal_fetal_cardiomyocyte0.95414175
113MP0002168_other_aberrant_phenotype0.93387347
114MP0002734_abnormal_mechanical_nocicepti0.93368249
115MP0005075_abnormal_melanosome_morpholog0.92870169
116MP0003119_abnormal_digestive_system0.91886444
117MP0004510_myositis0.91389156
118MP0000749_muscle_degeneration0.90980469
119MP0000372_irregular_coat_pigmentation0.90259014
120MP0002177_abnormal_outer_ear0.90048245
121MP0000631_abnormal_neuroendocrine_gland0.88632361
122MP0001529_abnormal_vocalization0.88229907
123MP0004270_analgesia0.86454887
124MP0003137_abnormal_impulse_conducting0.84894222
125MP0001145_abnormal_male_reproductive0.83147033
126MP0000383_abnormal_hair_follicle0.82617570
127MP0002116_abnormal_craniofacial_bone0.82213658
128MP0002095_abnormal_skin_pigmentation0.80952631
129MP0002693_abnormal_pancreas_physiology0.80835615
130MP0005195_abnormal_posterior_eye0.80069583
131MP0000762_abnormal_tongue_morphology0.80065701
132MP0003755_abnormal_palate_morphology0.80063936
133MP0002928_abnormal_bile_duct0.78598636
134MP0003938_abnormal_ear_development0.77807977
135MP0001970_abnormal_pain_threshold0.77369708
136MP0003315_abnormal_perineum_morphology0.77120079
137MP0002109_abnormal_limb_morphology0.77071405
138MP0002127_abnormal_cardiovascular_syste0.76317719
139MP0005423_abnormal_somatic_nervous0.76241776
140MP0000653_abnormal_sex_gland0.76056621
141MP0002139_abnormal_hepatobiliary_system0.76046424
142MP0003385_abnormal_body_wall0.76027518
143MP0001324_abnormal_eye_pigmentation0.75402667
144MP0005248_abnormal_Harderian_gland0.75055838
145MP0001186_pigmentation_phenotype0.73889145
146MP0002751_abnormal_autonomic_nervous0.73743544
147MP0002163_abnormal_gland_morphology0.72603650
148MP0001756_abnormal_urination0.72138668
149MP0004019_abnormal_vitamin_homeostasis0.71867285
150MP0003638_abnormal_response/metabolism_0.71820236
151MP0001286_abnormal_eye_development0.70731758
152MP0003283_abnormal_digestive_organ0.70153550
153MP0001929_abnormal_gametogenesis0.68004045
154MP0000538_abnormal_urinary_bladder0.67897060
155MP0008789_abnormal_olfactory_epithelium0.66991006
156MP0004742_abnormal_vestibular_system0.66888038
157MP0004043_abnormal_pH_regulation0.66107743
158MP0002752_abnormal_somatic_nervous0.65232723
159MP0005410_abnormal_fertilization0.64810397

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.57452266
2Abnormal number of erythroid precursors (HP:0012131)4.44106948
3Abnormality of cells of the erythroid lineage (HP:0012130)4.24859357
4Increased hepatocellular lipid droplets (HP:0006565)4.19626233
5Mitochondrial inheritance (HP:0001427)4.18174335
6Abnormal mitochondria in muscle tissue (HP:0008316)4.05355098
7Lipid accumulation in hepatocytes (HP:0006561)3.97837411
8Acute encephalopathy (HP:0006846)3.87202515
9Progressive macrocephaly (HP:0004481)3.80355655
10Chronic hepatic failure (HP:0100626)3.80070729
11Increased CSF lactate (HP:0002490)3.79264564
12Congenital, generalized hypertrichosis (HP:0004540)3.77254125
133-Methylglutaconic aciduria (HP:0003535)3.68253485
14Decreased circulating renin level (HP:0003351)3.64928944
15Renal Fanconi syndrome (HP:0001994)3.52893761
16Pendular nystagmus (HP:0012043)3.45250262
17Febrile seizures (HP:0002373)3.37228270
18Hepatocellular necrosis (HP:0001404)3.23658059
19Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.23198344
20Abnormality of the parietal bone (HP:0002696)3.03235220
21White forelock (HP:0002211)3.00828636
22Abnormality of the nasal septum (HP:0000419)3.00139824
23Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.97377709
24Decreased activity of mitochondrial respiratory chain (HP:0008972)2.97377709
25Reticulocytopenia (HP:0001896)2.96293458
26Hepatic necrosis (HP:0002605)2.95111886
27Tubulointerstitial nephritis (HP:0001970)2.90153675
28Focal motor seizures (HP:0011153)2.86771471
29Cerebral edema (HP:0002181)2.85226175
30Patchy hypopigmentation of hair (HP:0011365)2.85170016
31Abnormality of incisor morphology (HP:0011063)2.84117553
32* Macrocytic anemia (HP:0001972)2.82093143
33Absent thumb (HP:0009777)2.79570707
34Nasolacrimal duct obstruction (HP:0000579)2.79070954
35Oral leukoplakia (HP:0002745)2.78952523
36Midline defect of the nose (HP:0004122)2.77886916
37Stomach cancer (HP:0012126)2.74390982
38Epileptic encephalopathy (HP:0200134)2.72258949
39Protruding tongue (HP:0010808)2.68513607
40Congenital stationary night blindness (HP:0007642)2.66369844
41Increased serum lactate (HP:0002151)2.62330241
42Congenital sensorineural hearing impairment (HP:0008527)2.59832577
43Exertional dyspnea (HP:0002875)2.59176017
44Lip pit (HP:0100267)2.58142744
45Aplasia cutis congenita (HP:0001057)2.57899741
46Birth length less than 3rd percentile (HP:0003561)2.56509253
47Genetic anticipation (HP:0003743)2.54715951
48Hypoplasia of the pons (HP:0012110)2.54166347
49Increased intramyocellular lipid droplets (HP:0012240)2.53593871
50Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.52359750
51Abnormality of alanine metabolism (HP:0010916)2.52359750
52Hyperalaninemia (HP:0003348)2.52359750
53Abnormal hair whorl (HP:0010721)2.51379180
54Hyperkalemia (HP:0002153)2.50963333
55Alacrima (HP:0000522)2.46804287
56Rib fusion (HP:0000902)2.46675292
57Lactic acidosis (HP:0003128)2.46241794
58Abnormality of the pons (HP:0007361)2.45092866
59Abnormality of renal resorption (HP:0011038)2.44656307
60Decreased lacrimation (HP:0000633)2.41724368
61Abnormality of the lacrimal duct (HP:0011481)2.39980648
62Progressive cerebellar ataxia (HP:0002073)2.39351058
63Abnormality of the columella (HP:0009929)2.34705344
64Blue irides (HP:0000635)2.31955685
65Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.30701791
66Bell-shaped thorax (HP:0001591)2.28345693
67Toxemia of pregnancy (HP:0100603)2.27998057
68Renal cortical cysts (HP:0000803)2.27886928
69Optic disc pallor (HP:0000543)2.27578852
70Anal stenosis (HP:0002025)2.27154261
71Abnormality of the nasolacrimal system (HP:0000614)2.26472652
72Aplasia/Hypoplasia of the patella (HP:0006498)2.25787733
73Respiratory failure (HP:0002878)2.21604016
74Osteomalacia (HP:0002749)2.20556107
75Meckel diverticulum (HP:0002245)2.18968127
76Abnormality of the renal medulla (HP:0100957)2.17794413
77Pancreatic fibrosis (HP:0100732)2.17022559
78Aplastic anemia (HP:0001915)2.16535637
79Abnormality of urine glucose concentration (HP:0011016)2.16238636
80Glycosuria (HP:0003076)2.16238636
81Leukodystrophy (HP:0002415)2.14940102
82True hermaphroditism (HP:0010459)2.13639706
83Trigonocephaly (HP:0000243)2.13314510
84Increased muscle lipid content (HP:0009058)2.13245035
85Hyperactive renin-angiotensin system (HP:0000841)2.13029975
86Abnormality of the renal cortex (HP:0011035)2.12022908
87Patellar aplasia (HP:0006443)2.11837573
88Abolished electroretinogram (ERG) (HP:0000550)2.11552590
89Abnormality of the ileum (HP:0001549)2.11489088
90Congenital hepatic fibrosis (HP:0002612)2.10734098
91* Pallor (HP:0000980)2.08480897
92Median cleft lip (HP:0000161)2.08366798
93Exercise intolerance (HP:0003546)2.07179649
94Attenuation of retinal blood vessels (HP:0007843)2.07054861
95Type I transferrin isoform profile (HP:0003642)2.03421657
96Abnormality of the incisor (HP:0000676)2.02434615
97Aplasia/Hypoplasia of the uvula (HP:0010293)2.01838917
98Hypoplastic ischia (HP:0003175)2.01055968
99Septo-optic dysplasia (HP:0100842)2.00737623
100Aplasia involving bones of the upper limbs (HP:0009823)2.00586000
101Aplasia of the phalanges of the hand (HP:0009802)2.00586000
102Aplasia involving bones of the extremities (HP:0009825)2.00586000
103Neoplasm of the adrenal cortex (HP:0100641)2.00272636
104Optic nerve hypoplasia (HP:0000609)1.99963921
105Aplasia/Hypoplasia of the sacrum (HP:0008517)1.99685363
106Abnormality of chromosome stability (HP:0003220)1.99476766
107Flat capital femoral epiphysis (HP:0003370)1.97156284
108Sclerocornea (HP:0000647)1.94644693
109Chromosomal breakage induced by crosslinking agents (HP:0003221)1.94636512
110Volvulus (HP:0002580)1.93591692
111Respiratory difficulties (HP:0002880)1.93543272
112Chorioretinal atrophy (HP:0000533)1.92813734
113Abnormality of the right ventricle (HP:0001707)1.92488302
114Abnormality of placental membranes (HP:0011409)1.92405538
115Amniotic constriction ring (HP:0009775)1.92405538
116Hyperaldosteronism (HP:0000859)1.92141182
117Hypoplasia of the fovea (HP:0007750)1.92031134
118Aplasia/Hypoplasia of the fovea (HP:0008060)1.92031134
119Abnormality of the ischium (HP:0003174)1.91149723
120Symptomatic seizures (HP:0011145)1.91146278
121Abnormality of the fingertips (HP:0001211)1.90751826
122Hypoplastic pelvis (HP:0008839)1.90446338
123Furrowed tongue (HP:0000221)1.89552750
124* Lethargy (HP:0001254)1.89523088
125Male pseudohermaphroditism (HP:0000037)1.89423432
126Reduced antithrombin III activity (HP:0001976)1.88952293
127Decreased central vision (HP:0007663)1.87640986
128Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.87044978
129Poor head control (HP:0002421)1.86869451
130Small hand (HP:0200055)1.86766791
131Supernumerary ribs (HP:0005815)1.85979903
132Hyperventilation (HP:0002883)1.85584303
133Cleft eyelid (HP:0000625)1.84524974
134Limited hip movement (HP:0008800)1.82661170
135Colon cancer (HP:0003003)1.82263529
136Atrial fibrillation (HP:0005110)1.80780742
137Testicular atrophy (HP:0000029)1.80215950
138Nephronophthisis (HP:0000090)1.80177303
139Bradycardia (HP:0001662)1.80018361
140Aplasia/Hypoplasia involving the musculature (HP:0001460)1.79653305
141Hypoplasia of the radius (HP:0002984)1.79449356
142Pancreatic cysts (HP:0001737)1.78497086
143Abnormality of renin-angiotensin system (HP:0000847)1.78494144
144Prolonged QT interval (HP:0001657)1.78399790
145Abnormality of midbrain morphology (HP:0002418)1.78259922
146Molar tooth sign on MRI (HP:0002419)1.78259922
147Conjunctival hamartoma (HP:0100780)1.78240009
148Aplasia/hypoplasia of the uterus (HP:0008684)1.77796436
149Hypothermia (HP:0002045)1.77612427
150Hyperinsulinemic hypoglycemia (HP:0000825)1.77418406
151Abnormality of the preputium (HP:0100587)1.76797722
152Mixed hearing impairment (HP:0000410)1.76265787
153Abnormality of the renal collecting system (HP:0004742)1.75956538
154Enlarged kidneys (HP:0000105)1.75568683
155Broad-based gait (HP:0002136)1.75521820
156Thyroid-stimulating hormone excess (HP:0002925)1.75030555
157Cutaneous finger syndactyly (HP:0010554)1.74923901
158Fair hair (HP:0002286)1.74157313
159Bilateral microphthalmos (HP:0007633)1.74150763
160Chromsome breakage (HP:0040012)1.73913273
161Absent rod-and cone-mediated responses on ERG (HP:0007688)1.72895498
162Increased number of teeth (HP:0011069)1.72787444
163Tinnitus (HP:0000360)1.72694974
164Supernumerary bones of the axial skeleton (HP:0009144)1.71798273
165Abnormal number of incisors (HP:0011064)1.71699606
166Generalized hypopigmentation of hair (HP:0011358)1.71570624
167Rectal fistula (HP:0100590)1.71087485
168Rectovaginal fistula (HP:0000143)1.71087485
169Hyperglycinemia (HP:0002154)1.70922944
170Anteriorly placed anus (HP:0001545)1.70669126
171Generalized aminoaciduria (HP:0002909)1.70287503
172Gaze-evoked nystagmus (HP:0000640)1.70018628
173Preaxial hand polydactyly (HP:0001177)1.67692967
174Renal dysplasia (HP:0000110)1.67453161
175Split foot (HP:0001839)1.66329706
176Submucous cleft hard palate (HP:0000176)1.65968177
177Abnormal lung lobation (HP:0002101)1.65534422
178Syncope (HP:0001279)1.65418263
179Ectopic anus (HP:0004397)1.64757265
180Intestinal atresia (HP:0011100)1.63979913
181Anophthalmia (HP:0000528)1.63578655
182Humeroradial synostosis (HP:0003041)1.63562168
183Synostosis involving the elbow (HP:0003938)1.63562168
184Absent speech (HP:0001344)1.63177098
185Cystic liver disease (HP:0006706)1.61828218
186Postaxial foot polydactyly (HP:0001830)1.61256587
187Widely spaced teeth (HP:0000687)1.60936943
188Cutaneous syndactyly (HP:0012725)1.60011371
189Occipital encephalocele (HP:0002085)1.59960119
190Conical tooth (HP:0000698)1.59187994

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK4.41946794
2TLK14.39400061
3INSRR4.26604763
4ZAK4.01154631
5CASK3.57065809
6VRK23.56800028
7BUB13.33843089
8CDC72.87668932
9MST42.72397139
10PBK2.63593497
11NME12.52127074
12NTRK32.41913126
13MKNK22.31848569
14NUAK12.24776330
15VRK12.24048038
16TAF12.03658985
17ACVR1B2.02447287
18WNK41.99159067
19AKT31.91523238
20BRD41.86113997
21MAP2K71.79674598
22IRAK31.79599789
23SRPK11.79196496
24SIK31.76909077
25PIK3CA1.72120181
26CDK31.70218659
27PRPF4B1.63132066
28NEK61.61893005
29MUSK1.58920375
30MAPK131.57154001
31SGK21.54293202
32EPHA41.52101591
33MARK21.51088051
34CAMK1G1.49187703
35DYRK21.43967544
36LATS11.42503883
37OXSR11.40313401
38OBSCN1.40109402
39EIF2AK21.34602583
40MAP3K61.34389800
41PLK31.34211648
42TXK1.30837512
43YES11.27777002
44SGK31.26984351
45EIF2AK11.25977286
46BRSK21.25333045
47PLK41.22679358
48CAMK1D1.22132164
49IRAK41.20028388
50IRAK11.18514369
51PLK11.16332762
52PNCK1.15033945
53BMPR1B1.11385759
54DMPK1.09906806
55MAP3K141.09299109
56STK391.08960971
57CDK121.08328752
58CDC42BPA1.08007968
59MAP4K21.07410678
60WEE11.06107761
61CHEK21.00526977
62PRKCE0.99536638
63NME20.98884887
64PRKAA20.97728994
65ADRBK20.96965557
66TTK0.96716667
67GRK70.95740805
68MKNK10.95370612
69EIF2AK30.93751591
70SGK2230.93565330
71SGK4940.93565330
72PDK20.91466499
73PHKG10.90105886
74PHKG20.90105886
75STK160.89000856
76CDK190.87072769
77EPHA30.86747470
78CAMK10.86009311
79NLK0.82877440
80ADRBK10.82799643
81MAPK150.82460200
82MAP3K40.80072548
83AURKB0.79560486
84CAMK2D0.78944866
85NEK20.76919175
86PIK3CG0.76547846
87CAMK40.76447735
88IRAK20.76014995
89PRKCG0.75857188
90MAPK70.75409411
91BCKDK0.75302083
92DYRK30.74302717
93TEC0.74157301
94SGK10.74001247
95RPS6KA50.72370146
96CSNK1G10.72263801
97GRK10.72002129
98SIK10.71981631
99BMPR20.71205088
100AURKA0.70134200
101PKN10.70087199
102NEK10.69317723
103FRK0.69062358
104TAOK30.66599539
105FGFR20.64578167
106CAMK2A0.63565959
107JAK10.62663103
108WNK10.61620582
109PRKG10.61468321
110CSNK2A10.60274634
111PLK20.59866853
112ABL20.59197026
113NTRK20.59186026
114TIE10.58342295
115CAMK2B0.58124198
116RPS6KB20.58002751
117CSNK1G20.56833213
118CSNK1G30.56792820
119WNK30.55103944
120STK38L0.54914785
121CSNK2A20.53071765
122STK240.52993515
123TGFBR10.52381557
124TNK20.51967125
125MAP3K70.51867537
126CHUK0.50761701
127CDK80.48554930
128MAPKAPK50.47499761
129ERBB30.46069144
130PINK10.44984847
131IGF1R0.44632648
132PRKCI0.44583844
133DYRK1A0.44036031
134CSNK1E0.43680387
135MAP2K60.42755220
136TAOK20.41559532
137CSNK1A1L0.40254090
138TRPM70.39890721
139STK40.37489786
140GSK3B0.37150483
141ATM0.36937740
142CSNK1A10.35538868
143TSSK60.35474023
144PRKCQ0.34574158
145PRKD20.34035993
146CHEK10.33715756
147CAMKK20.33229927
148RPS6KB10.33144064
149PRKACA0.32582164
150HIPK20.31921664
151STK30.31847367
152MAP3K120.31726305
153IKBKE0.30789782
154FER0.30140647
155GRK60.30072574
156IKBKB0.29801732
157DAPK20.29732279
158CLK10.29679351
159MARK30.28922398
160MAPK140.27951275
161SIK20.27879659
162FGFR30.27769880
163ATR0.27673495
164PAK30.26414730
165PIM10.24125810

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.86342458
2Oxidative phosphorylation_Homo sapiens_hsa001904.35979393
3Parkinsons disease_Homo sapiens_hsa050123.54223627
4RNA polymerase_Homo sapiens_hsa030203.40727605
5Nicotine addiction_Homo sapiens_hsa050333.39958077
6Homologous recombination_Homo sapiens_hsa034403.01702312
7Proteasome_Homo sapiens_hsa030502.95098494
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.74528300
9Circadian rhythm_Homo sapiens_hsa047102.56836344
10Huntingtons disease_Homo sapiens_hsa050162.55341784
11Alzheimers disease_Homo sapiens_hsa050102.42279352
12Circadian entrainment_Homo sapiens_hsa047132.35702351
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.28452399
14DNA replication_Homo sapiens_hsa030302.23156870
15Taste transduction_Homo sapiens_hsa047422.13522973
16Mismatch repair_Homo sapiens_hsa034302.09729023
17Insulin secretion_Homo sapiens_hsa049112.09071533
18Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.08312466
19Glutamatergic synapse_Homo sapiens_hsa047241.99243071
20Phototransduction_Homo sapiens_hsa047441.94317744
21Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.92305609
22Morphine addiction_Homo sapiens_hsa050321.92138604
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.87767201
24One carbon pool by folate_Homo sapiens_hsa006701.86746091
25Basal transcription factors_Homo sapiens_hsa030221.86619254
26Nucleotide excision repair_Homo sapiens_hsa034201.86408313
27Cardiac muscle contraction_Homo sapiens_hsa042601.84057966
28Amphetamine addiction_Homo sapiens_hsa050311.79323258
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.73021600
30Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.67501554
31RNA degradation_Homo sapiens_hsa030181.67494476
32Spliceosome_Homo sapiens_hsa030401.63665411
33cAMP signaling pathway_Homo sapiens_hsa040241.63164236
34Sulfur relay system_Homo sapiens_hsa041221.59042317
35Calcium signaling pathway_Homo sapiens_hsa040201.59009295
36Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.56877330
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.51635441
38Pyrimidine metabolism_Homo sapiens_hsa002401.50761906
39Cocaine addiction_Homo sapiens_hsa050301.48525511
40GABAergic synapse_Homo sapiens_hsa047271.48457481
41Serotonergic synapse_Homo sapiens_hsa047261.47279788
42Type II diabetes mellitus_Homo sapiens_hsa049301.43929410
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.43638388
44Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.41611789
45Selenocompound metabolism_Homo sapiens_hsa004501.35639637
46Dilated cardiomyopathy_Homo sapiens_hsa054141.31714009
47RNA transport_Homo sapiens_hsa030131.31547952
48Sphingolipid metabolism_Homo sapiens_hsa006001.29555358
49Lysine degradation_Homo sapiens_hsa003101.26914404
50SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21384682
51Long-term potentiation_Homo sapiens_hsa047201.18539160
52Salivary secretion_Homo sapiens_hsa049701.16769310
53Purine metabolism_Homo sapiens_hsa002301.15199445
54Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13832389
55Base excision repair_Homo sapiens_hsa034101.12013626
56Cholinergic synapse_Homo sapiens_hsa047251.11613459
57Chemical carcinogenesis_Homo sapiens_hsa052041.11172050
58NF-kappa B signaling pathway_Homo sapiens_hsa040641.09357026
59Caffeine metabolism_Homo sapiens_hsa002321.08333903
60Aldosterone synthesis and secretion_Homo sapiens_hsa049251.07771274
61Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.07356139
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04029084
63Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02777858
64Tryptophan metabolism_Homo sapiens_hsa003801.02625431
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02460015
66Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02308076
67Olfactory transduction_Homo sapiens_hsa047401.01390449
68Sulfur metabolism_Homo sapiens_hsa009201.01322990
69Adherens junction_Homo sapiens_hsa045200.99061299
70Folate biosynthesis_Homo sapiens_hsa007900.97445450
71Wnt signaling pathway_Homo sapiens_hsa043100.96008527
72Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.95313606
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.94489737
74Axon guidance_Homo sapiens_hsa043600.93852627
75Dopaminergic synapse_Homo sapiens_hsa047280.93851980
76Vascular smooth muscle contraction_Homo sapiens_hsa042700.93785046
77Rheumatoid arthritis_Homo sapiens_hsa053230.93678218
78Fanconi anemia pathway_Homo sapiens_hsa034600.93555504
79Renin secretion_Homo sapiens_hsa049240.93043736
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92953840
81Ovarian steroidogenesis_Homo sapiens_hsa049130.92859922
82Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.91989895
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91351229
84cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91283767
85Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.91215981
86Long-term depression_Homo sapiens_hsa047300.91011319
87Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90519789
88Collecting duct acid secretion_Homo sapiens_hsa049660.89803955
89Basal cell carcinoma_Homo sapiens_hsa052170.89222056
90Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.88803270
91Pyruvate metabolism_Homo sapiens_hsa006200.87967347
92Melanoma_Homo sapiens_hsa052180.87573554
93Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.87065302
94Oxytocin signaling pathway_Homo sapiens_hsa049210.86493296
95Mineral absorption_Homo sapiens_hsa049780.86175576
96Other glycan degradation_Homo sapiens_hsa005110.83527310
97Retinol metabolism_Homo sapiens_hsa008300.83507065
98Pentose and glucuronate interconversions_Homo sapiens_hsa000400.83360864
99Autoimmune thyroid disease_Homo sapiens_hsa053200.82598614
100Nitrogen metabolism_Homo sapiens_hsa009100.80514058
101Pancreatic secretion_Homo sapiens_hsa049720.79940256
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79593811
103Inositol phosphate metabolism_Homo sapiens_hsa005620.79573529
104Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79556695
105Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.78150178
106Ras signaling pathway_Homo sapiens_hsa040140.77992031
107Linoleic acid metabolism_Homo sapiens_hsa005910.77273812
108Metabolic pathways_Homo sapiens_hsa011000.75781701
109Ether lipid metabolism_Homo sapiens_hsa005650.74349797
110Synaptic vesicle cycle_Homo sapiens_hsa047210.74296632
111Steroid hormone biosynthesis_Homo sapiens_hsa001400.72462752
112MAPK signaling pathway_Homo sapiens_hsa040100.71900509
113Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.71718129
114Protein export_Homo sapiens_hsa030600.71332843
115ABC transporters_Homo sapiens_hsa020100.71053681
116Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70458873
117Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68113970
118Cysteine and methionine metabolism_Homo sapiens_hsa002700.67271899
119Vibrio cholerae infection_Homo sapiens_hsa051100.67142574
120Arachidonic acid metabolism_Homo sapiens_hsa005900.65340271
121Drug metabolism - other enzymes_Homo sapiens_hsa009830.65042386
122Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64280234
123Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.64151755
124Toll-like receptor signaling pathway_Homo sapiens_hsa046200.62231324
125African trypanosomiasis_Homo sapiens_hsa051430.61013581
126Hedgehog signaling pathway_Homo sapiens_hsa043400.60700677
127Peroxisome_Homo sapiens_hsa041460.60622173
128Prostate cancer_Homo sapiens_hsa052150.59801847
129Hematopoietic cell lineage_Homo sapiens_hsa046400.59634166
130Propanoate metabolism_Homo sapiens_hsa006400.59323384
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57833670
132Glutathione metabolism_Homo sapiens_hsa004800.57308218
133Choline metabolism in cancer_Homo sapiens_hsa052310.56811576
134Regulation of actin cytoskeleton_Homo sapiens_hsa048100.55489201
135Cell cycle_Homo sapiens_hsa041100.55037275
136Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.54565363
137Intestinal immune network for IgA production_Homo sapiens_hsa046720.54332157
138Systemic lupus erythematosus_Homo sapiens_hsa053220.54296349
139Butanoate metabolism_Homo sapiens_hsa006500.54114903
140alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53912439
141Gastric acid secretion_Homo sapiens_hsa049710.53756107
142Jak-STAT signaling pathway_Homo sapiens_hsa046300.53559536
143Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.53482622
144Rap1 signaling pathway_Homo sapiens_hsa040150.52179683
145Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50872955
146Primary bile acid biosynthesis_Homo sapiens_hsa001200.50355873
147ECM-receptor interaction_Homo sapiens_hsa045120.50284907
148RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.50139453
149ErbB signaling pathway_Homo sapiens_hsa040120.50062689
150Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49749383
151Dorso-ventral axis formation_Homo sapiens_hsa043200.45188520
152Primary immunodeficiency_Homo sapiens_hsa053400.44973257
153Vitamin B6 metabolism_Homo sapiens_hsa007500.43905027
154Fatty acid degradation_Homo sapiens_hsa000710.43662848
155Measles_Homo sapiens_hsa051620.43119080
156Type I diabetes mellitus_Homo sapiens_hsa049400.42235499
157TNF signaling pathway_Homo sapiens_hsa046680.42029397
158Regulation of autophagy_Homo sapiens_hsa041400.41373930
159Non-homologous end-joining_Homo sapiens_hsa034500.41331328
160Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.39980617
161Melanogenesis_Homo sapiens_hsa049160.39174899
162Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.38050814
163Herpes simplex infection_Homo sapiens_hsa051680.37299480
164beta-Alanine metabolism_Homo sapiens_hsa004100.36833822
165Steroid biosynthesis_Homo sapiens_hsa001000.35687421
166Asthma_Homo sapiens_hsa053100.35049169
167Fat digestion and absorption_Homo sapiens_hsa049750.27961921
168* Vitamin digestion and absorption_Homo sapiens_hsa049770.27621924
169mRNA surveillance pathway_Homo sapiens_hsa030150.26159440
170Tyrosine metabolism_Homo sapiens_hsa003500.22519793
171Glycerolipid metabolism_Homo sapiens_hsa005610.20895760
172p53 signaling pathway_Homo sapiens_hsa041150.20054014
173TGF-beta signaling pathway_Homo sapiens_hsa043500.17451944
174Histidine metabolism_Homo sapiens_hsa003400.16659837
175Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.14638517

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