SMOC1

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 multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.95835670
2L-phenylalanine catabolic process (GO:0006559)6.95835670
3postsynaptic membrane organization (GO:0001941)6.88599393
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.64881688
5L-phenylalanine metabolic process (GO:0006558)6.64881688
6alpha-linolenic acid metabolic process (GO:0036109)6.11977509
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.04094386
8aromatic amino acid family catabolic process (GO:0009074)5.94557008
9axon ensheathment in central nervous system (GO:0032291)5.92227626
10central nervous system myelination (GO:0022010)5.92227626
11complement activation, alternative pathway (GO:0006957)5.40472738
12negative regulation of fibrinolysis (GO:0051918)5.36634840
13sulfur amino acid catabolic process (GO:0000098)5.34789491
14presynaptic membrane assembly (GO:0097105)5.26658909
15bile acid biosynthetic process (GO:0006699)5.22791145
16eye photoreceptor cell differentiation (GO:0001754)5.18328231
17photoreceptor cell differentiation (GO:0046530)5.18328231
18glyoxylate metabolic process (GO:0046487)5.15887076
19urea metabolic process (GO:0019627)5.15364921
20urea cycle (GO:0000050)5.15364921
21regulation of protein activation cascade (GO:2000257)5.11931784
22kynurenine metabolic process (GO:0070189)5.09887550
23high-density lipoprotein particle remodeling (GO:0034375)5.06825700
24indole-containing compound catabolic process (GO:0042436)5.05741610
25indolalkylamine catabolic process (GO:0046218)5.05741610
26tryptophan catabolic process (GO:0006569)5.05741610
27protein carboxylation (GO:0018214)5.01872801
28peptidyl-glutamic acid carboxylation (GO:0017187)5.01872801
29regulation of fibrinolysis (GO:0051917)5.00674629
30dermatan sulfate biosynthetic process (GO:0030208)4.97275148
31cysteine metabolic process (GO:0006534)4.93524106
32regulation of complement activation (GO:0030449)4.83007679
33neuron cell-cell adhesion (GO:0007158)4.82522286
34regulation of triglyceride catabolic process (GO:0010896)4.79941903
35serine family amino acid catabolic process (GO:0009071)4.76054773
36tryptophan metabolic process (GO:0006568)4.76012646
37plasma lipoprotein particle clearance (GO:0034381)4.73633397
38nitrogen cycle metabolic process (GO:0071941)4.71125840
39presynaptic membrane organization (GO:0097090)4.70006946
40triglyceride homeostasis (GO:0070328)4.65782699
41acylglycerol homeostasis (GO:0055090)4.65782699
42astrocyte differentiation (GO:0048708)4.64666159
43fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.63521239
44bile acid metabolic process (GO:0008206)4.60966070
45reverse cholesterol transport (GO:0043691)4.57732674
46dermatan sulfate metabolic process (GO:0030205)4.55563793
47locomotory exploration behavior (GO:0035641)4.42167239
48tyrosine metabolic process (GO:0006570)4.41292527
49plasma lipoprotein particle remodeling (GO:0034369)4.40304076
50protein-lipid complex remodeling (GO:0034368)4.40304076
51macromolecular complex remodeling (GO:0034367)4.40304076
52homocysteine metabolic process (GO:0050667)4.38591641
53lysine catabolic process (GO:0006554)4.33911421
54lysine metabolic process (GO:0006553)4.33911421
55regulation of cholesterol esterification (GO:0010872)4.30503059
56positive regulation of fatty acid beta-oxidation (GO:0032000)4.30194178
57alpha-amino acid catabolic process (GO:1901606)4.29303625
58amino-acid betaine metabolic process (GO:0006577)4.27900782
59aromatic amino acid family metabolic process (GO:0009072)4.26428441
60Sertoli cell development (GO:0060009)4.09669886
61phospholipid efflux (GO:0033700)4.08423510
62negative regulation of sterol transport (GO:0032372)4.06382293
63negative regulation of cholesterol transport (GO:0032375)4.06382293
64positive regulation of lipid catabolic process (GO:0050996)4.05975830
65cellular amino acid catabolic process (GO:0009063)4.01667584
66oligodendrocyte differentiation (GO:0048709)3.98083906
67coenzyme catabolic process (GO:0009109)3.95912304
68glycine metabolic process (GO:0006544)3.95848295
69low-density lipoprotein particle clearance (GO:0034383)3.92146070
70ethanol oxidation (GO:0006069)3.90867437
71acetyl-CoA metabolic process (GO:0006084)3.89886580
72nephron tubule formation (GO:0072079)3.86921494
73cellular ketone body metabolic process (GO:0046950)3.85283488
74chondroitin sulfate catabolic process (GO:0030207)3.82437857
75cholesterol efflux (GO:0033344)3.82430194
76regulation of plasminogen activation (GO:0010755)3.79781123
77phospholipid homeostasis (GO:0055091)3.78732462
78cellular modified amino acid catabolic process (GO:0042219)3.78685998
79valine metabolic process (GO:0006573)3.76239910
80serine family amino acid metabolic process (GO:0009069)3.76014719
81negative regulation of lipase activity (GO:0060192)3.73492067
82glutamate metabolic process (GO:0006536)3.73282934
83regulation of cholesterol homeostasis (GO:2000188)3.73138222
84neuronal stem cell maintenance (GO:0097150)3.71506109
85imidazole-containing compound metabolic process (GO:0052803)3.69079301
86bile acid and bile salt transport (GO:0015721)3.68914280
87fibrinolysis (GO:0042730)3.68170386
88regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.67592982
89regulation of fatty acid beta-oxidation (GO:0031998)3.67177986
90fatty acid beta-oxidation (GO:0006635)3.66835959
91plasma lipoprotein particle assembly (GO:0034377)3.65524843
92potassium ion import (GO:0010107)3.65296579
93enteric nervous system development (GO:0048484)3.64530118
94benzene-containing compound metabolic process (GO:0042537)3.62763989
95short-chain fatty acid metabolic process (GO:0046459)3.62017085
962-oxoglutarate metabolic process (GO:0006103)3.61596853
97carboxylic acid catabolic process (GO:0046395)3.60812139
98organic acid catabolic process (GO:0016054)3.60812139
99arginine metabolic process (GO:0006525)3.59829977
100serine family amino acid biosynthetic process (GO:0009070)3.59100424
101positive regulation of fatty acid oxidation (GO:0046321)3.58862070
102cholesterol homeostasis (GO:0042632)3.58432580
103fatty acid oxidation (GO:0019395)3.58188602
104complement activation (GO:0006956)3.56399809
105dicarboxylic acid biosynthetic process (GO:0043650)3.54577488
106cellular glucuronidation (GO:0052695)3.54080056
107indolalkylamine metabolic process (GO:0006586)3.52748033
108sterol homeostasis (GO:0055092)3.52732958
109positive regulation of lipoprotein lipase activity (GO:0051006)3.52063302
110positive regulation of triglyceride lipase activity (GO:0061365)3.52063302
111cellular potassium ion homeostasis (GO:0030007)3.51718968
112lipid oxidation (GO:0034440)3.51148921
113neutral lipid catabolic process (GO:0046461)3.49859532
114acylglycerol catabolic process (GO:0046464)3.49859532
115monocarboxylic acid catabolic process (GO:0072329)3.49711387
116regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.48293469
117fatty acid catabolic process (GO:0009062)3.47863638
118triglyceride catabolic process (GO:0019433)3.46481826
119complement activation, classical pathway (GO:0006958)3.45427210
120cytolysis (GO:0019835)3.44732482
121positive regulation of triglyceride metabolic process (GO:0090208)3.44465516
122negative regulation of astrocyte differentiation (GO:0048712)3.42383414
123biotin metabolic process (GO:0006768)3.41987156
124cell-cell signaling involved in cell fate commitment (GO:0045168)3.38620618
125developmental induction (GO:0031128)3.37690183
126positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.30984416
127neurotransmitter-gated ion channel clustering (GO:0072578)3.29511464
128cellular response to cholesterol (GO:0071397)3.29112978
129positive regulation of osteoblast proliferation (GO:0033690)3.24238889
130pyrimidine nucleobase catabolic process (GO:0006208)3.21769230
131exploration behavior (GO:0035640)3.21215313
132amino acid import (GO:0043090)3.20744660
133cGMP-mediated signaling (GO:0019934)3.20070884
134potassium ion homeostasis (GO:0055075)3.18642553
135positive regulation of oligodendrocyte differentiation (GO:0048714)3.17811437
136axonal fasciculation (GO:0007413)3.16215283
137thalamus development (GO:0021794)3.16196308
138neuron recognition (GO:0008038)3.14860292
139regulation of respiratory system process (GO:0044065)3.14847515
140regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.13952227
141glial cell differentiation (GO:0010001)3.10475263
142negative regulation of oligodendrocyte differentiation (GO:0048715)3.03877954
143L-amino acid import (GO:0043092)3.00534856
144auditory behavior (GO:0031223)2.94472370
145nucleobase catabolic process (GO:0046113)2.93288441
146positive regulation of vascular permeability (GO:0043117)2.92849846
147cranial nerve development (GO:0021545)2.92791958
148mechanosensory behavior (GO:0007638)2.91443726
149positive regulation of neurological system process (GO:0031646)2.90528082
150tongue development (GO:0043586)2.89818543
151sodium ion export (GO:0071436)2.85505069
152dendritic spine morphogenesis (GO:0060997)2.84701963
153neurotransmitter catabolic process (GO:0042135)2.83109070
154astrocyte development (GO:0014002)2.82800374
155neurotransmitter uptake (GO:0001504)2.82082514
156neuron fate commitment (GO:0048663)2.81776897
157positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)2.80015428
158positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.79080297
159response to auditory stimulus (GO:0010996)2.78108731
160regulation of oligodendrocyte differentiation (GO:0048713)2.77215399
161negative regulation of glial cell differentiation (GO:0045686)2.72528803
162regulation of neurotransmitter uptake (GO:0051580)2.72229383
163neuron projection regeneration (GO:0031102)2.71416858
164nonmotile primary cilium assembly (GO:0035058)2.67718725
165ionotropic glutamate receptor signaling pathway (GO:0035235)2.63846351
166cellular sodium ion homeostasis (GO:0006883)2.62243970
167calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.60605295
168C4-dicarboxylate transport (GO:0015740)2.60158934
169vocalization behavior (GO:0071625)2.59871935
170positive regulation of gliogenesis (GO:0014015)2.59818198
171auditory receptor cell differentiation (GO:0042491)2.59215088
172regulation of somitogenesis (GO:0014807)2.59083881
173negative regulation of smoothened signaling pathway (GO:0045879)2.55841270
174cAMP-mediated signaling (GO:0019933)2.55459275
175* appendage development (GO:0048736)2.54009046
176* limb development (GO:0060173)2.54009046
177positive regulation of mesonephros development (GO:0061213)2.53602742
178spinal cord development (GO:0021510)2.53565660
179regulation of astrocyte differentiation (GO:0048710)2.50485970
180cellular response to sterol (GO:0036315)2.49555920
181synapse assembly (GO:0007416)2.49124229
182membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.48818682
183positive regulation of synapse assembly (GO:0051965)2.48100964
184positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.48034071
185notochord development (GO:0030903)2.46563740
186regulation of synapse structural plasticity (GO:0051823)2.45978975
187myelination (GO:0042552)2.45040662
188cell proliferation in forebrain (GO:0021846)2.43215111
189cyclic-nucleotide-mediated signaling (GO:0019935)2.43172648
190transmission of nerve impulse (GO:0019226)2.42998599
191positive regulation of neuroblast proliferation (GO:0002052)2.41329522
192regulation of gliogenesis (GO:0014013)2.39252038
193negative regulation of neuron differentiation (GO:0045665)2.38677573
194heart valve formation (GO:0003188)2.37077376
195paraxial mesoderm development (GO:0048339)2.36864764
196cerebellar Purkinje cell layer development (GO:0021680)2.35483575
197establishment of nucleus localization (GO:0040023)2.35409626
198regulation of cholesterol biosynthetic process (GO:0045540)2.34752397
199axon ensheathment (GO:0008366)2.34600072
200ensheathment of neurons (GO:0007272)2.34600072

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.72808795
2* PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.04602471
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.61154188
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.14306865
5EZH2_22144423_ChIP-Seq_EOC_Human5.71542088
6EGR1_23403033_ChIP-Seq_LIVER_Mouse5.63399616
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.83436528
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.30837165
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.93663602
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.27238025
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.11535054
12CLOCK_20551151_ChIP-Seq_293T_Human2.99806141
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.97808509
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.86291321
15JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84805033
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.83803655
17EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76479219
18RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76479219
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.75379248
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.73464372
21SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.66479687
22JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57247297
23SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.53158392
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.51517161
25CBX2_27304074_Chip-Seq_ESCs_Mouse2.45323538
26EZH2_27294783_Chip-Seq_ESCs_Mouse2.44060221
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.42506823
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.39139791
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34866161
30* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.16441558
31RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.15658348
32MTF2_20144788_ChIP-Seq_MESCs_Mouse2.15142751
33SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.13614788
34* RING1B_27294783_Chip-Seq_ESCs_Mouse2.05146796
35PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.02695711
36TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.01688879
37* ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.7999526
38REST_21632747_ChIP-Seq_MESCs_Mouse1.99311382
39EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99228141
40GBX2_23144817_ChIP-Seq_PC3_Human1.96594507
41STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.89388486
42RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.72874654
43RING1B_27294783_Chip-Seq_NPCs_Mouse1.69233277
44REST_18959480_ChIP-ChIP_MESCs_Mouse1.69069475
45HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.64107852
46EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.63093099
47* FOXA2_19822575_ChIP-Seq_HepG2_Human1.62986865
48TP53_20018659_ChIP-ChIP_R1E_Mouse1.61510237
49RBPJ_22232070_ChIP-Seq_NCS_Mouse1.58120348
50* DROSHA_22980978_ChIP-Seq_HELA_Human1.57771110
51RARG_19884340_ChIP-ChIP_MEFs_Mouse1.56170557
52OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.52749199
53ESR1_15608294_ChIP-ChIP_MCF-7_Human1.51285498
54TRIM28_21343339_ChIP-Seq_HEK293_Human1.38369704
55HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38236871
56RARB_27405468_Chip-Seq_BRAIN_Mouse1.36586104
57* HNF4A_19822575_ChIP-Seq_HepG2_Human1.31172782
58RNF2_27304074_Chip-Seq_NSC_Mouse1.29159241
59ZNF263_19887448_ChIP-Seq_K562_Human1.25651957
60AR_21572438_ChIP-Seq_LNCaP_Human1.24529164
61ESR2_21235772_ChIP-Seq_MCF-7_Human1.18307958
62PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.17418380
63* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15941998
64CTBP1_25329375_ChIP-Seq_LNCAP_Human1.15521723
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15416372
66CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.15143433
67* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.14837561
68* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.14694360
69PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13536864
70TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12431329
71ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12347819
72CTCF_27219007_Chip-Seq_Bcells_Human1.11989653
73* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.11519220
74ISL1_27105846_Chip-Seq_CPCs_Mouse1.11364471
75SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.11206529
76* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.07521691
77KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.05957626
78RUNX1_26923725_Chip-Seq_HPCs_Mouse1.03854567
79NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.03712507
80RXRA_24833708_ChIP-Seq_LIVER_Mouse1.03172732
81CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02189656
82SOX2_27498859_Chip-Seq_STOMACH_Mouse1.01373719
83PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01198684
84HTT_18923047_ChIP-ChIP_STHdh_Human1.00502616
85BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98779455
86* SOX3_22085726_ChIP-Seq_NPCs_Mouse0.97653226
87ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95937023
88ESR1_21235772_ChIP-Seq_MCF-7_Human0.95719256
89* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95457490
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94936212
91GATA1_26923725_Chip-Seq_HPCs_Mouse0.93544281
92CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.92287350
93SOX9_26525672_Chip-Seq_HEART_Mouse0.92112595
94YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91876143
95KDM2B_26808549_Chip-Seq_K562_Human0.91592679
96* AR_19668381_ChIP-Seq_PC3_Human0.91431610
97IKZF1_21737484_ChIP-ChIP_HCT116_Human0.90491467
98ERG_21242973_ChIP-ChIP_JURKAT_Human0.89266500
99GATA1_22025678_ChIP-Seq_K562_Human0.89165202
100POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.89129829
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.89053333
102STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.88936349
103NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.88878447
104* SOX2_21211035_ChIP-Seq_LN229_Gbm0.88563283
105GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88097411
106WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87701118
107EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87648477
108* TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.87487145
109LXR_22292898_ChIP-Seq_THP-1_Human0.87274821
110SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.86979941
111NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.85893936
112SMAD3_21741376_ChIP-Seq_EPCs_Human0.85706915
113ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85340965
114KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.85326975
115TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84295393
116ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.81473078
117FOXO3_23340844_ChIP-Seq_DLD1_Human0.81200862
118SMC4_20622854_ChIP-Seq_HELA_Human0.81143596
119CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.80850597
120POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.80697234
121* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.80550855
122SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79105836
123SMAD3_21741376_ChIP-Seq_ESCs_Human0.78989017
124PPAR_26484153_Chip-Seq_NCI-H1993_Human0.78255159
125GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.78128889
126AUTS2_25519132_ChIP-Seq_293T-REX_Human0.78097356
127TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77934066
128ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.77268946
129POU5F1_16153702_ChIP-ChIP_HESCs_Human0.77033613
130SMAD4_21799915_ChIP-Seq_A2780_Human0.76625950
131TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76025507
132STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.76015240
133SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75966125
134GATA4_25053715_ChIP-Seq_YYC3_Human0.75604516
135NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.75480501
136* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.74861616
137SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.74724298
138LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74492680
139* TP53_23651856_ChIP-Seq_MEFs_Mouse0.74472436
140PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.72146187
141AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70184695
142RARA_24833708_ChIP-Seq_LIVER_Mouse0.69917457
143* STAT3_1855785_ChIP-Seq_MESCs_Mouse0.68522798
144NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.65024873
145NRF2_20460467_ChIP-Seq_MEFs_Mouse0.65024873
146TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.63833724
147TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.63056145
148RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62942265
149* GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.61947456
150RARB_24833708_ChIP-Seq_LIVER_Mouse0.61129498
151TCF3_18692474_ChIP-Seq_MEFs_Mouse0.60532765
152RACK7_27058665_Chip-Seq_MCF-7_Human0.60223320
153NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.59421636
154* TBX20_22328084_ChIP-Seq_HEART_Mouse0.55924001
155* TBX20_22080862_ChIP-Seq_HEART_Mouse0.55924001
156P300_27058665_Chip-Seq_ZR-75-30cells_Human0.54865390
157POU5F1_16518401_ChIP-PET_MESCs_Mouse0.54500700
158NFIB_24661679_ChIP-Seq_LUNG_Mouse0.54241024
159ESR1_20079471_ChIP-ChIP_T-47D_Human0.53946979
160CDX2_20551321_ChIP-Seq_CACO-2_Human0.53573940
161SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.52822399
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.52474121
163PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.51848049
164NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.51489250
165* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.51241122
166STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.51129529
167SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.50626582
168FOXA1_25552417_ChIP-Seq_VCAP_Human0.50111635
169CEBPB_22108803_ChIP-Seq_LS180_Human0.49327998
170CREB1_26743006_Chip-Seq_LNCaP_Human0.49248908
171SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.48138502
172KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.47922655
173FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.47770424
174ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.47088340
175NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.46039699
176RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.45812856
177MYC_27129775_Chip-Seq_CORNEA_Mouse0.45646175
178MYC_19915707_ChIP-ChIP_AK7_Human0.45611999
179CSB_26484114_Chip-Seq_FIBROBLAST_Human0.45068835
180SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.44400289
181BCAT_22108803_ChIP-Seq_LS180_Human0.44167173
182* GATA3_24758297_ChIP-Seq_MCF-7_Human0.44016057
183CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.43755475
184GATA1_19941826_ChIP-Seq_K562_Human0.43462791
185BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.43410341
186DNAJC2_21179169_ChIP-ChIP_NT2_Human0.43035521
187OCT4_18692474_ChIP-Seq_MEFs_Mouse0.42631451
188TP63_17297297_ChIP-ChIP_HaCaT_Human0.42199849

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.62486007
2MP0005360_urolithiasis6.79424860
3MP0005365_abnormal_bile_salt5.86083708
4MP0005085_abnormal_gallbladder_physiolo5.66402019
5MP0008875_abnormal_xenobiotic_pharmacok4.43021442
6MP0010329_abnormal_lipoprotein_level3.97224188
7MP0003136_yellow_coat_color3.73191131
8MP0003252_abnormal_bile_duct3.57062516
9MP0003806_abnormal_nucleotide_metabolis3.50286465
10MP0002653_abnormal_ependyma_morphology3.27138066
11MP0004885_abnormal_endolymph3.00838270
12MP0009840_abnormal_foam_cell2.96123203
13MP0005083_abnormal_biliary_tract2.78313039
14MP0003122_maternal_imprinting2.68746987
15MP0005423_abnormal_somatic_nervous2.61357264
16MP0005670_abnormal_white_adipose2.60462945
17MP0000579_abnormal_nail_morphology2.60308021
18MP0003191_abnormal_cellular_cholesterol2.57886263
19MP0000778_abnormal_nervous_system2.57220742
20MP0005332_abnormal_amino_acid2.53418512
21MP0006292_abnormal_olfactory_placode2.41071625
22MP0003705_abnormal_hypodermis_morpholog2.36179900
23MP0001666_abnormal_nutrient_absorption2.33608972
24MP0002118_abnormal_lipid_homeostasis2.31115485
25MP0004859_abnormal_synaptic_plasticity2.31005042
26MP0003880_abnormal_central_pattern2.24485531
27MP0003195_calcinosis2.24113706
28MP0000609_abnormal_liver_physiology2.19528560
29MP0001502_abnormal_circadian_rhythm2.13816799
30MP0000566_synostosis2.13710431
31MP0005646_abnormal_pituitary_gland2.10077889
32MP0009379_abnormal_foot_pigmentation2.01822294
33MP0001984_abnormal_olfaction2.00504713
34MP0008438_abnormal_cutaneous_collagen1.89673239
35MP0010030_abnormal_orbit_morphology1.85809125
36MP0003635_abnormal_synaptic_transmissio1.81127664
37MP0004019_abnormal_vitamin_homeostasis1.75283482
38MP0002736_abnormal_nociception_after1.74708406
39MP0005319_abnormal_enzyme/_coenzyme1.74312470
40MP0001486_abnormal_startle_reflex1.72763934
41MP0005171_absent_coat_pigmentation1.71795048
42MP0002064_seizures1.69330788
43MP0002938_white_spotting1.69062040
44MP0004130_abnormal_muscle_cell1.68722651
45MP0005666_abnormal_adipose_tissue1.67884708
46MP0000955_abnormal_spinal_cord1.64775887
47MP0002063_abnormal_learning/memory/cond1.61330480
48MP0001485_abnormal_pinna_reflex1.56625441
49MP0003868_abnormal_feces_composition1.53776550
50MP0009780_abnormal_chondrocyte_physiolo1.53460933
51MP0000631_abnormal_neuroendocrine_gland1.52954086
52MP0000026_abnormal_inner_ear1.52501151
53MP0002272_abnormal_nervous_system1.50533893
54MP0004142_abnormal_muscle_tone1.50309089
55MP0002734_abnormal_mechanical_nocicepti1.50078133
56MP0008789_abnormal_olfactory_epithelium1.47632983
57MP0003634_abnormal_glial_cell1.47190862
58MP0005584_abnormal_enzyme/coenzyme_acti1.46729691
59MP0004270_analgesia1.46433294
60MP0001968_abnormal_touch/_nociception1.43706855
61MP0003011_delayed_dark_adaptation1.40977277
62MP0002572_abnormal_emotion/affect_behav1.39947015
63MP0001293_anophthalmia1.38188569
64MP0002557_abnormal_social/conspecific_i1.36494920
65MP0005394_taste/olfaction_phenotype1.35712052
66MP0005499_abnormal_olfactory_system1.35712052
67MP0005167_abnormal_blood-brain_barrier1.35651295
68MP0002254_reproductive_system_inflammat1.35479262
69MP0000049_abnormal_middle_ear1.35149840
70MP0001764_abnormal_homeostasis1.33211003
71MP0002233_abnormal_nose_morphology1.31735145
72MP0002697_abnormal_eye_size1.31616599
73MP0002971_abnormal_brown_adipose1.31420769
74MP0009745_abnormal_behavioral_response1.31325847
75MP0001963_abnormal_hearing_physiology1.29358980
76MP0002152_abnormal_brain_morphology1.28970139
77MP0000762_abnormal_tongue_morphology1.27932890
78MP0005551_abnormal_eye_electrophysiolog1.26091043
79MP0002138_abnormal_hepatobiliary_system1.25949584
80MP0002638_abnormal_pupillary_reflex1.25104130
81MP0003186_abnormal_redox_activity1.24670270
82MP0004133_heterotaxia1.24289791
83MP0005647_abnormal_sex_gland1.24063367
84MP0003632_abnormal_nervous_system1.20643644
85MP0005379_endocrine/exocrine_gland_phen1.19969167
86MP0003938_abnormal_ear_development1.18965932
87MP0002882_abnormal_neuron_morphology1.18543282
88MP0001661_extended_life_span1.17404124
89MP0004185_abnormal_adipocyte_glucose1.17371962
90MP0003861_abnormal_nervous_system1.17175109
91MP0005275_abnormal_skin_tensile1.17004544
92MP0003123_paternal_imprinting1.16944755
93MP0005334_abnormal_fat_pad1.14247630
94MP0000598_abnormal_liver_morphology1.13891894
95MP0002234_abnormal_pharynx_morphology1.13852791
96MP0000920_abnormal_myelination1.12335264
97MP0005375_adipose_tissue_phenotype1.11234972
98MP0002876_abnormal_thyroid_physiology1.10991905
99MP0001529_abnormal_vocalization1.10438023
100MP0009643_abnormal_urine_homeostasis1.09926754
101MP0002733_abnormal_thermal_nociception1.07383032
102MP0010368_abnormal_lymphatic_system1.02051190
103MP0002067_abnormal_sensory_capabilities1.01983783
104MP0003283_abnormal_digestive_organ1.00191053
105MP0002909_abnormal_adrenal_gland0.99764689
106MP0003937_abnormal_limbs/digits/tail_de0.99490082
107MP0003121_genomic_imprinting0.99200438
108MP0003690_abnormal_glial_cell0.98986410
109MP0009053_abnormal_anal_canal0.98892466
110MP0005391_vision/eye_phenotype0.98627498
111MP0003879_abnormal_hair_cell0.97474691
112MP0009697_abnormal_copulation0.96353918
113MP0001970_abnormal_pain_threshold0.96052209
114MP0002116_abnormal_craniofacial_bone0.95998548
115MP0005253_abnormal_eye_physiology0.95530867
116MP0002092_abnormal_eye_morphology0.95053949
117MP0002752_abnormal_somatic_nervous0.93364108
118MP0005195_abnormal_posterior_eye0.93186139
119MP0002837_dystrophic_cardiac_calcinosis0.93107843
120MP0003119_abnormal_digestive_system0.93102275
121MP0009115_abnormal_fat_cell0.93093191
122MP0002078_abnormal_glucose_homeostasis0.92943005
123MP0000604_amyloidosis0.92275063
124MP0002735_abnormal_chemical_nociception0.92179724
125MP0003755_abnormal_palate_morphology0.92058531
126MP0002184_abnormal_innervation0.92052967
127MP0001299_abnormal_eye_distance/0.91973198
128MP0000428_abnormal_craniofacial_morphol0.91893014
129MP0001905_abnormal_dopamine_level0.90441592
130MP0003633_abnormal_nervous_system0.90432845
131MP0009763_increased_sensitivity_to0.90236213
132MP0004811_abnormal_neuron_physiology0.87781379
133MP0003942_abnormal_urinary_system0.87242702
134MP0003787_abnormal_imprinting0.85788096
135MP0005448_abnormal_energy_balance0.83538269
136MP0001286_abnormal_eye_development0.83114423
137MP0003631_nervous_system_phenotype0.82323570
138MP0002970_abnormal_white_adipose0.81714112
139MP0005220_abnormal_exocrine_pancreas0.81080088
140MP0008569_lethality_at_weaning0.80929686
141MP0002066_abnormal_motor_capabilities/c0.79917781
142MP0006276_abnormal_autonomic_nervous0.79668973
143MP0003656_abnormal_erythrocyte_physiolo0.78840682
144MP0005535_abnormal_body_temperature0.78422562
145MP0005451_abnormal_body_composition0.76192929
146MP0009642_abnormal_blood_homeostasis0.75326679
147MP0000639_abnormal_adrenal_gland0.73865664
148MP0005376_homeostasis/metabolism_phenot0.72358519
149MP0002089_abnormal_postnatal_growth/wei0.71079861
150MP0005377_hearing/vestibular/ear_phenot0.70851645
151MP0004272_abnormal_basement_membrane0.69136783
152MP0003959_abnormal_lean_body0.67449319
153MP0009384_cardiac_valve_regurgitation0.66518127
154MP0009672_abnormal_birth_weight0.65974477
155MP0001756_abnormal_urination0.65800767
156MP0009764_decreased_sensitivity_to0.65714689
157MP0006036_abnormal_mitochondrial_physio0.64886047
158MP0005248_abnormal_Harderian_gland0.64793374
159MP0002060_abnormal_skin_morphology0.63454534
160MP0000003_abnormal_adipose_tissue0.61815625
161MP0001881_abnormal_mammary_gland0.60460669
162MP0005636_abnormal_mineral_homeostasis0.59725326
163MP0003329_amyloid_beta_deposits0.59667826
164MP0009765_abnormal_xenobiotic_induced0.55005201
165MP0002168_other_aberrant_phenotype0.54635279
166MP0004883_abnormal_blood_vessel0.54227561
167MP0005266_abnormal_metabolism0.53691333
168MP0008469_abnormal_protein_level0.53218727
169MP0005164_abnormal_response_to0.52793274
170MP0003953_abnormal_hormone_level0.52406350
171MP0002249_abnormal_larynx_morphology0.52249884
172MP0005084_abnormal_gallbladder_morpholo0.52196915
173MP0002295_abnormal_pulmonary_circulatio0.50274487
174MP0000013_abnormal_adipose_tissue0.49418047
175MP0005408_hypopigmentation0.48848918
176MP0002282_abnormal_trachea_morphology0.47559974
177MP0002796_impaired_skin_barrier0.44559013
178MP0005395_other_phenotype0.44380387
179MP0005452_abnormal_adipose_tissue0.44049528
180MP0005503_abnormal_tendon_morphology0.43418089
181MP0002108_abnormal_muscle_morphology0.42199791
182MP0000249_abnormal_blood_vessel0.41219152
183MP0002090_abnormal_vision0.39177175
184MP0004858_abnormal_nervous_system0.37123777
185MP0005595_abnormal_vascular_smooth0.36720279
186MP0001243_abnormal_dermal_layer0.36687018
187MP0000230_abnormal_systemic_arterial0.36641568
188MP0002269_muscular_atrophy0.36383592
189MP0002928_abnormal_bile_duct0.34653091
190MP0002136_abnormal_kidney_physiology0.34592402
191MP0005023_abnormal_wound_healing0.33669122
192MP0003638_abnormal_response/metabolism_0.32632695

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.38620269
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.69254494
3Intrahepatic cholestasis (HP:0001406)6.44944806
4Xanthomatosis (HP:0000991)6.05968873
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.03643992
6Hypobetalipoproteinemia (HP:0003563)5.74182555
7Complement deficiency (HP:0004431)5.70064970
8Prolonged partial thromboplastin time (HP:0003645)5.52284513
9Hyperlipoproteinemia (HP:0010980)5.51195669
10Hypolipoproteinemia (HP:0010981)4.70649129
11Hyperammonemia (HP:0001987)4.54484132
12Hypoalphalipoproteinemia (HP:0003233)4.49792400
13Hyperglycinemia (HP:0002154)4.49276485
14Epidermoid cyst (HP:0200040)4.47954031
15Hyperglycinuria (HP:0003108)4.42700441
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.36742085
17Abnormality of glycine metabolism (HP:0010895)4.33520209
18Abnormality of serine family amino acid metabolism (HP:0010894)4.33520209
19Ketosis (HP:0001946)4.28132307
20Abnormality of the common coagulation pathway (HP:0010990)4.15538027
21Abnormality of complement system (HP:0005339)4.08597783
22Joint hemorrhage (HP:0005261)3.98719234
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.96283078
24Hypoglycemic coma (HP:0001325)3.95675597
25Abnormality of the diencephalon (HP:0010662)3.80332569
26Abnormality of sulfur amino acid metabolism (HP:0004339)3.79106507
27Hypercholesterolemia (HP:0003124)3.63070462
28Abnormality of methionine metabolism (HP:0010901)3.62043460
29Fat malabsorption (HP:0002630)3.52929933
30Abnormality of aspartate family amino acid metabolism (HP:0010899)3.52449210
31Abnormality of the intrinsic pathway (HP:0010989)3.50888939
32Rib fusion (HP:0000902)3.50470579
33Morphological abnormality of the inner ear (HP:0011390)3.46889764
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.41379668
35Septo-optic dysplasia (HP:0100842)3.37410329
36Abnormality of fatty-acid metabolism (HP:0004359)3.31772764
37Abnormality of cochlea (HP:0000375)3.21874060
38Myocardial infarction (HP:0001658)3.16853197
39Ketoacidosis (HP:0001993)3.12555675
40Abnormality of the ischium (HP:0003174)3.10234117
41Abnormality of pyrimidine metabolism (HP:0004353)3.04890812
42Skin nodule (HP:0200036)3.02913198
43Spastic diplegia (HP:0001264)2.94594569
44Spontaneous abortion (HP:0005268)2.88375453
45Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.86593159
46Absent epiphyses (HP:0010577)2.86593159
47Abnormality of serum amino acid levels (HP:0003112)2.84907800
48Missing ribs (HP:0000921)2.82427936
49Conjugated hyperbilirubinemia (HP:0002908)2.80725404
50Delayed CNS myelination (HP:0002188)2.79267896
51Hyperbilirubinemia (HP:0002904)2.78622524
52Esophageal atresia (HP:0002032)2.78349754
53Hepatocellular carcinoma (HP:0001402)2.77900407
54Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.73730634
55Increased circulating renin level (HP:0000848)2.68792204
56Abnormality of nucleobase metabolism (HP:0010932)2.66765326
57Urethral obstruction (HP:0000796)2.65311191
58Steatorrhea (HP:0002570)2.62199583
59Hypoplastic ischia (HP:0003175)2.59815180
60Systemic lupus erythematosus (HP:0002725)2.56251217
61Vertebral clefting (HP:0008428)2.54870050
62Hemorrhage of the eye (HP:0011885)2.53824960
63Hypochromic microcytic anemia (HP:0004840)2.52796156
64Split foot (HP:0001839)2.52085393
65Hemiparesis (HP:0001269)2.51836279
66Abnormal cartilage morphology (HP:0002763)2.49628621
67Hypoglycemic seizures (HP:0002173)2.48497807
68Abnormality of purine metabolism (HP:0004352)2.47702582
69Dicarboxylic aciduria (HP:0003215)2.45925877
70Abnormality of dicarboxylic acid metabolism (HP:0010995)2.45925877
71Hypertriglyceridemia (HP:0002155)2.45657433
72Gastrointestinal atresia (HP:0002589)2.45538639
73Mitral stenosis (HP:0001718)2.45408755
74Renal duplication (HP:0000075)2.43922575
75Amyloidosis (HP:0011034)2.42885844
76Metabolic acidosis (HP:0001942)2.40680971
77Neurofibrillary tangles (HP:0002185)2.39216571
78Arthropathy (HP:0003040)2.37548358
79Megalencephaly (HP:0001355)2.35452879
80Hemivertebrae (HP:0002937)2.30644593
81Hydroxyprolinuria (HP:0003080)2.29738171
82Abnormality of proline metabolism (HP:0010907)2.29738171
83Abnormal gallbladder morphology (HP:0012437)2.29670463
84Action tremor (HP:0002345)2.29582174
85Lethargy (HP:0001254)2.27887879
86Esophageal varix (HP:0002040)2.27372500
87Neonatal onset (HP:0003623)2.26829671
88Cholelithiasis (HP:0001081)2.25454798
89Cholecystitis (HP:0001082)2.24817446
90Abnormal gallbladder physiology (HP:0012438)2.24817446
91Hypoplasia of the ulna (HP:0003022)2.23965931
92Supernumerary ribs (HP:0005815)2.23598050
93Back pain (HP:0003418)2.23552230
94Anomalous pulmonary venous return (HP:0010772)2.22597239
95Turricephaly (HP:0000262)2.22415671
96Supernumerary bones of the axial skeleton (HP:0009144)2.20064317
97Vascular calcification (HP:0004934)2.17159927
98Cutaneous finger syndactyly (HP:0010554)2.14508019
99Partial duplication of thumb phalanx (HP:0009944)2.10973228
100Cardiovascular calcification (HP:0011915)2.10968801
101Irritability (HP:0000737)2.10332183
102Elfin facies (HP:0004428)2.09849480
103Abnormality of the aortic arch (HP:0012303)2.08854889
104Malnutrition (HP:0004395)2.08585487
105Pancreatitis (HP:0001733)2.08527959
106Brushfield spots (HP:0001088)2.07880828
107Intestinal atresia (HP:0011100)2.07687928
108Myokymia (HP:0002411)2.07181376
109Gout (HP:0001997)2.07108428
110Glomerulonephritis (HP:0000099)2.05411036
111Short 4th metacarpal (HP:0010044)2.04881873
112Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.04881873
113Oligomenorrhea (HP:0000876)2.04761832
114Hyperinsulinemic hypoglycemia (HP:0000825)2.03071686
115Cutaneous syndactyly (HP:0012725)2.02745597
116Overriding aorta (HP:0002623)2.02175169
117Peripheral hypomyelination (HP:0007182)2.01585792
118Double outlet right ventricle (HP:0001719)2.01311569
119Congenital malformation of the right heart (HP:0011723)2.01311569
120Maternal diabetes (HP:0009800)2.00971121
121Sensorimotor neuropathy (HP:0007141)2.00282048
122Hyperglycemia (HP:0003074)2.00143237
123Late onset (HP:0003584)2.00082880
12411 pairs of ribs (HP:0000878)1.99690474
125Enlarged kidneys (HP:0000105)1.98122905
126Renovascular hypertension (HP:0100817)1.96992182
127Pseudobulbar signs (HP:0002200)1.96496419
128Abnormal eating behavior (HP:0100738)1.96380263
129Vitreoretinal degeneration (HP:0000655)1.96077671
130* Anophthalmia (HP:0000528)1.94391219
131Renal dysplasia (HP:0000110)1.92824323
132Acanthosis nigricans (HP:0000956)1.92720046
133True hermaphroditism (HP:0010459)1.92044364
134Acanthocytosis (HP:0001927)1.91711782
135Cerebellar dysplasia (HP:0007033)1.90422366
136Focal motor seizures (HP:0011153)1.87997617
137Vomiting (HP:0002013)1.87174561
138Cerebral edema (HP:0002181)1.86252638
139Hyperacusis (HP:0010780)1.85767006
140Abnormality of the pulmonary veins (HP:0011718)1.85220301
141Abnormality of the gallbladder (HP:0005264)1.84818813
142Preaxial foot polydactyly (HP:0001841)1.84141666
143Optic nerve hypoplasia (HP:0000609)1.83927634
144Aplasia/Hypoplasia of the sternum (HP:0006714)1.83706707
145Aplasia/Hypoplasia of the ulna (HP:0006495)1.83542645
146Abnormality of the nasal septum (HP:0000419)1.82604518
147Metabolic alkalosis (HP:0200114)1.82534493
148Sclerocornea (HP:0000647)1.79985532
149Broad thumb (HP:0011304)1.79689776
150Hepatoblastoma (HP:0002884)1.79039165
151Opisthotonus (HP:0002179)1.77674287
152Insomnia (HP:0100785)1.77287452
153Gingival bleeding (HP:0000225)1.75097986
154Nephritis (HP:0000123)1.74695228
155Abnormality of the intervertebral disk (HP:0005108)1.74456531
156Abnormality of the Achilles tendon (HP:0005109)1.74172031
157Nephronophthisis (HP:0000090)1.73766063
158Polydipsia (HP:0001959)1.73313698
159Abnormal drinking behavior (HP:0030082)1.73313698
160* Synostosis of carpal bones (HP:0005048)1.71941671
161Hypoplasia of the capital femoral epiphysis (HP:0003090)1.71932935
162Thrombophlebitis (HP:0004418)1.71179573
163Truncus arteriosus (HP:0001660)1.70082809
164Stroke (HP:0001297)1.68950493
165Myoglobinuria (HP:0002913)1.68924751
166Partial duplication of the phalanx of hand (HP:0009999)1.68697308
167* Abnormality of the 4th metacarpal (HP:0010012)1.68484776
168Type II lissencephaly (HP:0007260)1.68473807
169Pigmentary retinal degeneration (HP:0001146)1.68436757
170Bronchomalacia (HP:0002780)1.68331067
171Menorrhagia (HP:0000132)1.68299241
172Laryngomalacia (HP:0001601)1.68092856
173Peritonitis (HP:0002586)1.66843666
174Diplopia (HP:0000651)1.66104951
175Abnormality of binocular vision (HP:0011514)1.66104951
176Tracheomalacia (HP:0002779)1.66041507
177Aplasia of the phalanges of the hand (HP:0009802)1.63165331
178Aplasia involving bones of the extremities (HP:0009825)1.63165331
179Aplasia involving bones of the upper limbs (HP:0009823)1.63165331
180Rickets (HP:0002748)1.61843537
181Bowel incontinence (HP:0002607)1.61550828
182Supernumerary spleens (HP:0009799)1.60521482
183Ectopia lentis (HP:0001083)1.60318637
184Abnormal sex determination (HP:0012244)1.58463610
185Sex reversal (HP:0012245)1.58463610
186Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.57716850
187Vertebral hypoplasia (HP:0008417)1.57716850
188Polyphagia (HP:0002591)1.57502742
189Sleep apnea (HP:0010535)1.57093068
190Milia (HP:0001056)1.55628736
191Broad phalanges of the hand (HP:0009768)1.54096079
192Limb dystonia (HP:0002451)1.53843162
193Absent septum pellucidum (HP:0001331)1.52651103
194Abnormality of the vitreous humor (HP:0004327)1.51548988
195Broad finger (HP:0001500)1.51297671
196Dysdiadochokinesis (HP:0002075)1.51212666
197Glossoptosis (HP:0000162)1.50789869

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.79078035
2SIK15.06057759
3NTRK24.15275256
4TRIB34.14582318
5ERN14.11485579
6NTRK33.87632458
7MARK13.72459696
8FGFR43.58728240
9CASK3.16450047
10EPHA43.05584690
11MAPK152.67171736
12CAMK1D2.65239643
13PKN22.61923334
14LATS12.52418346
15PNCK2.48375322
16ERBB42.24829913
17PRKD32.15559085
18INSRR1.98493115
19CAMK1G1.86842903
20RIPK11.83557191
21PDGFRA1.75263049
22MST1R1.74419537
23FGFR21.70712877
24UHMK11.69339776
25PTK61.65307395
26EPHA31.44761978
27MAP2K41.44292007
28ICK1.43488758
29NEK61.40855073
30MKNK11.40549382
31DYRK21.36559963
32MAPKAPK51.35926204
33MAPK111.34620787
34MET1.34548368
35DDR21.30731726
36PKN11.28734289
37FLT31.25418603
38PRKAA21.22302047
39CDK61.21982502
40LATS21.20432038
41SGK4941.17264562
42SGK2231.17264562
43WNK41.13944592
44EPHB21.13264507
45MAP3K101.11945042
46ERBB21.11304324
47EPHB11.10544250
48PDK31.07825471
49PDK41.07825471
50NEK91.06661665
51PRKCG1.06641187
52MAPK131.04336609
53PIK3CG1.03498767
54CAMK2D1.03395430
55CDK31.02870756
56MTOR1.00547319
57CAMK2B1.00345322
58TAOK30.98593922
59TYRO30.97836580
60JAK20.94270825
61MAP3K40.93636548
62DAPK20.91990675
63MAP3K70.89229580
64GSK3A0.88412389
65TNK20.86631041
66BMX0.86588318
67STK38L0.86391255
68MKNK20.86355434
69DYRK1B0.86034936
70SGK20.84739393
71FER0.84697675
72FGFR30.84523568
73PTK20.82858467
74LMTK20.80457361
75RET0.78735653
76MAP2K20.78585862
77SGK10.77898835
78ABL20.77817501
79FGFR10.77100063
80FRK0.75828008
81PRKAA10.74916268
82ROCK20.71977620
83PRKCZ0.71111327
84STK110.70709211
85PAK20.69661376
86MARK20.69466227
87WNK30.69190549
88MAP2K10.67583647
89PAK30.67099766
90CAMK2A0.66375642
91MAP2K70.65455376
92TTN0.65288925
93DYRK1A0.65114863
94PRKACG0.64998036
95CDK50.64985003
96PAK60.62698917
97CAMK10.61040419
98TGFBR20.61032970
99CAMKK10.60951212
100PLK20.59487235
101MAPK100.58510636
102CDK40.58425651
103RPS6KB10.58342081
104CSNK1G10.57418272
105CDK120.57314217
106PDGFRB0.57000543
107CSK0.56432085
108ROCK10.56386044
109JAK10.55850650
110EEF2K0.54977529
111NTRK10.54502113
112STK390.53161635
113FES0.52965300
114IGF1R0.52266010
115TYK20.52086405
116PRKDC0.51396716
117PINK10.51286414
118PIK3CA0.51257343
119BMPR1B0.48309491
120CSNK1E0.47824687
121GRK60.47437077
122KDR0.47084043
123TAOK20.46212476
124MAP3K90.45928197
125CSNK1D0.45802354
126MAPK120.45207995
127TSSK60.43859526
128RPS6KA30.42169862
129MAP2K30.42102457
130KSR20.42041258
131MAPK40.42000802
132TNIK0.41892425
133CAMK40.41018547
134ARAF0.40653329
135CSNK1A10.40538215
136SIK20.40113945
137PRKACA0.40103263
138PDPK10.39920968
139RPS6KA10.38134326
140PRKCH0.37485110
141PDK20.37298534
142CAMK2G0.36972299
143STK30.36575172
144AKT20.36147148
145PRKD10.34821117
146IRAK10.34627103
147CDK90.33988428
148PHKG10.32972005
149PHKG20.32972005
150TIE10.31470030
151MAP3K60.30524060
152IRAK20.28984062
153INSR0.28124845
154CSNK1G20.28079922
155CSNK1A1L0.27674449
156MYLK0.26129743
157CSNK1G30.26047682
158MAPK70.25331251
159SGK30.25094883
160SRC0.24377212

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.05199348
2Nitrogen metabolism_Homo sapiens_hsa009103.86971979
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.03007468
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.98020792
5Arginine biosynthesis_Homo sapiens_hsa002202.96316472
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.80752512
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.69192795
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.65816611
9Complement and coagulation cascades_Homo sapiens_hsa046102.65750851
10Fatty acid degradation_Homo sapiens_hsa000712.62311778
11Tryptophan metabolism_Homo sapiens_hsa003802.52073514
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.48457655
13PPAR signaling pathway_Homo sapiens_hsa033202.38040325
14Propanoate metabolism_Homo sapiens_hsa006402.34004193
15Fatty acid metabolism_Homo sapiens_hsa012122.19659008
16Butanoate metabolism_Homo sapiens_hsa006502.11072746
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.98546515
18Peroxisome_Homo sapiens_hsa041461.93906609
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.91748171
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.87758625
21Notch signaling pathway_Homo sapiens_hsa043301.80037903
22beta-Alanine metabolism_Homo sapiens_hsa004101.77744610
23Chemical carcinogenesis_Homo sapiens_hsa052041.77011045
24Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.76226152
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.76055758
26Caffeine metabolism_Homo sapiens_hsa002321.74568706
27Nicotine addiction_Homo sapiens_hsa050331.73490741
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.70935077
29Insulin secretion_Homo sapiens_hsa049111.68412791
30Histidine metabolism_Homo sapiens_hsa003401.65298972
31Staphylococcus aureus infection_Homo sapiens_hsa051501.64715874
32GABAergic synapse_Homo sapiens_hsa047271.61593257
33Glutamatergic synapse_Homo sapiens_hsa047241.61504154
34Pyruvate metabolism_Homo sapiens_hsa006201.59933691
35Phenylalanine metabolism_Homo sapiens_hsa003601.58740820
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.53936432
37Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.48692859
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.47837692
39Tyrosine metabolism_Homo sapiens_hsa003501.47472325
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.46977210
41Retinol metabolism_Homo sapiens_hsa008301.46521387
42Fat digestion and absorption_Homo sapiens_hsa049751.43707923
43Bile secretion_Homo sapiens_hsa049761.42462067
44Selenocompound metabolism_Homo sapiens_hsa004501.39074099
45Circadian entrainment_Homo sapiens_hsa047131.37424260
46Hedgehog signaling pathway_Homo sapiens_hsa043401.36240512
47Morphine addiction_Homo sapiens_hsa050321.35808298
48Axon guidance_Homo sapiens_hsa043601.34989782
49Carbon metabolism_Homo sapiens_hsa012001.31582044
50Biosynthesis of amino acids_Homo sapiens_hsa012301.29766800
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29640251
52Fatty acid elongation_Homo sapiens_hsa000621.29412175
53Fatty acid biosynthesis_Homo sapiens_hsa000611.23374700
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.22016870
55Starch and sucrose metabolism_Homo sapiens_hsa005001.18808901
56Hippo signaling pathway_Homo sapiens_hsa043901.17984860
57Cysteine and methionine metabolism_Homo sapiens_hsa002701.16491292
58Sulfur metabolism_Homo sapiens_hsa009201.16074327
59Vitamin B6 metabolism_Homo sapiens_hsa007501.13332841
60ABC transporters_Homo sapiens_hsa020101.10533848
61Glycerolipid metabolism_Homo sapiens_hsa005611.06848841
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.06318466
63Steroid biosynthesis_Homo sapiens_hsa001001.06062992
64Folate biosynthesis_Homo sapiens_hsa007901.01165678
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.00516514
66Lysine degradation_Homo sapiens_hsa003100.97659303
67Gastric acid secretion_Homo sapiens_hsa049710.97290357
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.95645054
69cAMP signaling pathway_Homo sapiens_hsa040240.92927485
70Cocaine addiction_Homo sapiens_hsa050300.92129078
71Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.90466777
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90187953
73Arginine and proline metabolism_Homo sapiens_hsa003300.89020004
74Cardiac muscle contraction_Homo sapiens_hsa042600.87865790
75Cyanoamino acid metabolism_Homo sapiens_hsa004600.83660675
76Maturity onset diabetes of the young_Homo sapiens_hsa049500.82686670
77Sulfur relay system_Homo sapiens_hsa041220.81617796
78Ribosome_Homo sapiens_hsa030100.80966808
79Dopaminergic synapse_Homo sapiens_hsa047280.80069704
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79298929
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.77509215
82Amphetamine addiction_Homo sapiens_hsa050310.75656812
83Melanogenesis_Homo sapiens_hsa049160.75608762
84Renin secretion_Homo sapiens_hsa049240.74544337
85Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.74091882
86Wnt signaling pathway_Homo sapiens_hsa043100.73584423
87Long-term depression_Homo sapiens_hsa047300.71896289
88Ether lipid metabolism_Homo sapiens_hsa005650.71612937
89Vitamin digestion and absorption_Homo sapiens_hsa049770.68582785
90Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67344167
91Thyroid hormone signaling pathway_Homo sapiens_hsa049190.66941477
92Cholinergic synapse_Homo sapiens_hsa047250.66674350
93Pentose phosphate pathway_Homo sapiens_hsa000300.66373716
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.66284949
95Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.65068580
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58987524
97One carbon pool by folate_Homo sapiens_hsa006700.58413034
98Serotonergic synapse_Homo sapiens_hsa047260.58232985
99Glutathione metabolism_Homo sapiens_hsa004800.56002442
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55713923
101Estrogen signaling pathway_Homo sapiens_hsa049150.55311285
102Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.54947798
103Aldosterone synthesis and secretion_Homo sapiens_hsa049250.52663799
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.50636831
105Oxytocin signaling pathway_Homo sapiens_hsa049210.48949674
106Salivary secretion_Homo sapiens_hsa049700.45232719
107Insulin resistance_Homo sapiens_hsa049310.44983526
108Dorso-ventral axis formation_Homo sapiens_hsa043200.43784294
109AMPK signaling pathway_Homo sapiens_hsa041520.41801351
110Prion diseases_Homo sapiens_hsa050200.40090862
111Metabolic pathways_Homo sapiens_hsa011000.38383525
112alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35194578
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32766051
114Fructose and mannose metabolism_Homo sapiens_hsa000510.27855522
115Glucagon signaling pathway_Homo sapiens_hsa049220.25108345
116Linoleic acid metabolism_Homo sapiens_hsa005910.23186425
117Galactose metabolism_Homo sapiens_hsa000520.23143224
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.20665679
119Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17020134
120Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.16209653
121Insulin signaling pathway_Homo sapiens_hsa049100.14668543
122Central carbon metabolism in cancer_Homo sapiens_hsa052300.14156605
123Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.09168444
124Ovarian steroidogenesis_Homo sapiens_hsa049130.05628899
125Protein digestion and absorption_Homo sapiens_hsa049740.03729328
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.00758654
127Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1817336
128mTOR signaling pathway_Homo sapiens_hsa04150-0.1809250
129Focal adhesion_Homo sapiens_hsa04510-0.1791989
130Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1775711
131Type II diabetes mellitus_Homo sapiens_hsa04930-0.1715012
132Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1355367
133Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1133206
134Amoebiasis_Homo sapiens_hsa05146-0.1123021
135Basal cell carcinoma_Homo sapiens_hsa05217-0.0876474
136Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0796709
137Bladder cancer_Homo sapiens_hsa05219-0.0731352
138Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0656770
139Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.0468462
140ECM-receptor interaction_Homo sapiens_hsa04512-0.0213551

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