ALS2

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





Description: The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.62411076
2L-phenylalanine catabolic process (GO:0006559)6.62411076
3L-phenylalanine metabolic process (GO:0006558)6.41838898
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.41838898
5aromatic amino acid family catabolic process (GO:0009074)6.06700204
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.98068531
7kynurenine metabolic process (GO:0070189)5.66971018
8indole-containing compound catabolic process (GO:0042436)5.58987173
9indolalkylamine catabolic process (GO:0046218)5.58987173
10tryptophan catabolic process (GO:0006569)5.58987173
11urea metabolic process (GO:0019627)5.42210653
12urea cycle (GO:0000050)5.42210653
13sulfur amino acid catabolic process (GO:0000098)5.41457175
14serine family amino acid catabolic process (GO:0009071)5.40465376
15alpha-linolenic acid metabolic process (GO:0036109)5.38682169
16coenzyme catabolic process (GO:0009109)5.29218168
17bile acid biosynthetic process (GO:0006699)5.22441375
18tryptophan metabolic process (GO:0006568)5.22014395
19glyoxylate metabolic process (GO:0046487)5.14058171
20high-density lipoprotein particle remodeling (GO:0034375)5.11757768
21negative regulation of fibrinolysis (GO:0051918)5.03999606
22cysteine metabolic process (GO:0006534)5.02158372
23cellular modified amino acid catabolic process (GO:0042219)4.91469434
24nitrogen cycle metabolic process (GO:0071941)4.86013612
25regulation of protein activation cascade (GO:2000257)4.80666315
26glycine metabolic process (GO:0006544)4.77333711
27regulation of fibrinolysis (GO:0051917)4.67288753
28peptidyl-glutamic acid carboxylation (GO:0017187)4.65608644
29protein carboxylation (GO:0018214)4.65608644
30homocysteine metabolic process (GO:0050667)4.61386101
31bile acid metabolic process (GO:0008206)4.58320854
32complement activation, alternative pathway (GO:0006957)4.58305557
33reverse cholesterol transport (GO:0043691)4.47553555
34aromatic amino acid family metabolic process (GO:0009072)4.46744340
35regulation of complement activation (GO:0030449)4.45477833
36dicarboxylic acid biosynthetic process (GO:0043650)4.43113109
37alpha-amino acid catabolic process (GO:1901606)4.42015170
38negative regulation of cholesterol transport (GO:0032375)4.38772355
39negative regulation of sterol transport (GO:0032372)4.38772355
40regulation of cholesterol esterification (GO:0010872)4.36850321
41plasma lipoprotein particle remodeling (GO:0034369)4.33328123
42protein-lipid complex remodeling (GO:0034368)4.33328123
43macromolecular complex remodeling (GO:0034367)4.33328123
44triglyceride homeostasis (GO:0070328)4.31311844
45acylglycerol homeostasis (GO:0055090)4.31311844
46phospholipid efflux (GO:0033700)4.25586695
47serine family amino acid metabolic process (GO:0009069)4.25335092
48lysine metabolic process (GO:0006553)4.24599174
49lysine catabolic process (GO:0006554)4.24599174
50amino-acid betaine metabolic process (GO:0006577)4.24141475
51fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.22260987
52glutamate metabolic process (GO:0006536)4.21273997
53cellular amino acid catabolic process (GO:0009063)4.19597876
54synaptic vesicle docking involved in exocytosis (GO:0016081)4.18853671
55tyrosine metabolic process (GO:0006570)4.17150926
56regulation of triglyceride catabolic process (GO:0010896)4.06596662
57synaptic vesicle maturation (GO:0016188)4.05555167
58regulation of cholesterol homeostasis (GO:2000188)4.04511416
59drug catabolic process (GO:0042737)4.03504095
60plasma lipoprotein particle clearance (GO:0034381)4.02489763
61imidazole-containing compound metabolic process (GO:0052803)3.97769177
62serine family amino acid biosynthetic process (GO:0009070)3.96649526
63regulation of bile acid biosynthetic process (GO:0070857)3.95603793
64regulation of short-term neuronal synaptic plasticity (GO:0048172)3.94817460
65cholesterol efflux (GO:0033344)3.93335466
66cellular ketone body metabolic process (GO:0046950)3.93067676
67bile acid and bile salt transport (GO:0015721)3.90573004
68heme transport (GO:0015886)3.89656936
69indolalkylamine metabolic process (GO:0006586)3.86680513
70cofactor catabolic process (GO:0051187)3.84240466
71plasma lipoprotein particle assembly (GO:0034377)3.72556908
72drug metabolic process (GO:0017144)3.71651299
73low-density lipoprotein particle remodeling (GO:0034374)3.63671256
74epoxygenase P450 pathway (GO:0019373)3.62326676
75amine catabolic process (GO:0009310)3.59887537
76cellular biogenic amine catabolic process (GO:0042402)3.59887537
77ethanol oxidation (GO:0006069)3.59735111
78cellular glucuronidation (GO:0052695)3.59455691
79phospholipid homeostasis (GO:0055091)3.54154673
80glutamate secretion (GO:0014047)3.52887043
81benzene-containing compound metabolic process (GO:0042537)3.51793314
82cholesterol homeostasis (GO:0042632)3.47679763
83arginine metabolic process (GO:0006525)3.47404307
84paraxial mesoderm development (GO:0048339)3.45573681
85hormone catabolic process (GO:0042447)3.44288019
86ketone body metabolic process (GO:1902224)3.43188537
87sterol homeostasis (GO:0055092)3.41668564
88biotin metabolic process (GO:0006768)3.40038118
89carboxylic acid catabolic process (GO:0046395)3.39964892
90organic acid catabolic process (GO:0016054)3.39964892
91positive regulation of lipid catabolic process (GO:0050996)3.38130410
92lipoprotein metabolic process (GO:0042157)3.37382857
93exogenous drug catabolic process (GO:0042738)3.37094643
94flavonoid metabolic process (GO:0009812)3.36658997
95protein-lipid complex assembly (GO:0065005)3.36309178
96very-low-density lipoprotein particle assembly (GO:0034379)3.35789360
97complement activation, classical pathway (GO:0006958)3.35377610
98negative regulation of fatty acid biosynthetic process (GO:0045717)3.34730586
99acetyl-CoA metabolic process (GO:0006084)3.31227462
100positive regulation of lipoprotein lipase activity (GO:0051006)3.30481851
101positive regulation of triglyceride lipase activity (GO:0061365)3.30481851
102cytolysis (GO:0019835)3.23090903
103short-chain fatty acid metabolic process (GO:0046459)3.22534474
104membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.22448368
105positive regulation of fatty acid beta-oxidation (GO:0032000)3.22304456
106complement activation (GO:0006956)3.21767596
107regulation of synaptic vesicle exocytosis (GO:2000300)3.07328866
108postsynaptic membrane organization (GO:0001941)2.95495622
109presynaptic membrane organization (GO:0097090)2.83551356
110embryonic retina morphogenesis in camera-type eye (GO:0060059)2.79940766
111presynaptic membrane assembly (GO:0097105)2.78002446
112regulation of neuronal synaptic plasticity (GO:0048168)2.76816942
113vocalization behavior (GO:0071625)2.74634607
114locomotory exploration behavior (GO:0035641)2.71195762
115cell communication by electrical coupling (GO:0010644)2.68879513
116neurotransmitter-gated ion channel clustering (GO:0072578)2.68219645
117positive regulation of dendritic spine morphogenesis (GO:0061003)2.67030031
118neuronal action potential propagation (GO:0019227)2.61340531
119cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.58567927
120regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.58203842
121neuronal ion channel clustering (GO:0045161)2.56667947
122cerebral cortex radially oriented cell migration (GO:0021799)2.53824186
123sodium ion export (GO:0071436)2.53733756
124neuron recognition (GO:0008038)2.53231404
125positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.51073550
126regulation of synaptic vesicle transport (GO:1902803)2.50138922
127negative regulation of dendrite morphogenesis (GO:0050774)2.49234401
128negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.49159055
129C4-dicarboxylate transport (GO:0015740)2.47695263
130axonal fasciculation (GO:0007413)2.44885224
131neurotransmitter secretion (GO:0007269)2.44637669
132* regulation of Rac protein signal transduction (GO:0035020)2.44566842
133negative regulation of neurotransmitter secretion (GO:0046929)2.44324032
134negative regulation of synaptic transmission, GABAergic (GO:0032229)2.42159642
135layer formation in cerebral cortex (GO:0021819)2.41933794
136negative regulation of potassium ion transmembrane transport (GO:1901380)2.41559680
137establishment of nucleus localization (GO:0040023)2.41262388
138cellular potassium ion homeostasis (GO:0030007)2.39993330
139cell communication involved in cardiac conduction (GO:0086065)2.39624972
140suckling behavior (GO:0001967)2.39562133
141exploration behavior (GO:0035640)2.38903191
142positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.37511503
143positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.35983046
144protein localization to synapse (GO:0035418)2.35740072
145regulation of long-term neuronal synaptic plasticity (GO:0048169)2.33308409
146positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.32519683
147negative regulation of cytosolic calcium ion concentration (GO:0051481)2.30772555
148apical protein localization (GO:0045176)2.29687491
149regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.29405086
150embryonic foregut morphogenesis (GO:0048617)2.26630533
151synaptic vesicle endocytosis (GO:0048488)2.26368783
152regulation of vesicle fusion (GO:0031338)2.24702185
153righting reflex (GO:0060013)2.24156655
154central nervous system myelination (GO:0022010)2.23361824
155axon ensheathment in central nervous system (GO:0032291)2.23361824
156regulation of dendritic spine morphogenesis (GO:0061001)2.23217354
157ionotropic glutamate receptor signaling pathway (GO:0035235)2.21175127
158cerebellar Purkinje cell differentiation (GO:0021702)2.20592876
159dendrite morphogenesis (GO:0048813)2.20142656
160peripheral nervous system axon ensheathment (GO:0032292)2.20044293
161myelination in peripheral nervous system (GO:0022011)2.20044293
162auditory behavior (GO:0031223)2.16874391
163proline transport (GO:0015824)2.14464222
164cardiac myofibril assembly (GO:0055003)2.13622480
165gamma-aminobutyric acid transport (GO:0015812)2.12916755
166cell migration in hindbrain (GO:0021535)2.12031561
167regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.10364778
168cytoskeletal anchoring at plasma membrane (GO:0007016)2.09865025
169establishment of mitochondrion localization (GO:0051654)2.09806191
170hippo signaling (GO:0035329)2.09586206
171pyrimidine nucleobase catabolic process (GO:0006208)2.09308728
172synaptic vesicle exocytosis (GO:0016079)2.08835613
173negative regulation of neurotransmitter transport (GO:0051589)2.07871808
174innervation (GO:0060384)2.07664633
175nucleus localization (GO:0051647)2.06923945
176regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.06541446
177regulation of glutamate receptor signaling pathway (GO:1900449)2.06409807
178regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.06322578
179detection of calcium ion (GO:0005513)2.06195915
180regulation of neurotransmitter secretion (GO:0046928)2.04634288
181regulation of membrane repolarization (GO:0060306)2.03557284
182central nervous system projection neuron axonogenesis (GO:0021952)2.02704168
183positive regulation of dendritic spine development (GO:0060999)2.02550393
184vesicle transport along microtubule (GO:0047496)2.02161077
185neuron cell-cell adhesion (GO:0007158)2.02059612
186neurotransmitter transport (GO:0006836)2.01999249
187glutamate receptor signaling pathway (GO:0007215)2.01564144
188axon cargo transport (GO:0008088)2.01523154
189membrane depolarization during action potential (GO:0086010)2.01485740
190transmission of nerve impulse (GO:0019226)2.01266083
191neuromuscular process controlling balance (GO:0050885)2.01262691
192axon extension (GO:0048675)2.00786189
193cellular sodium ion homeostasis (GO:0006883)2.00668905
194regulation of NFAT protein import into nucleus (GO:0051532)2.00261280
195organelle transport along microtubule (GO:0072384)1.99768189
196cerebellar granule cell differentiation (GO:0021707)1.99167794
197regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)1.98304680
198* synaptic transmission, glutamatergic (GO:0035249)1.98262184
199mechanosensory behavior (GO:0007638)1.96117064
200positive regulation of synapse maturation (GO:0090129)1.95998080

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.66900981
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.06387915
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.12622882
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.58621076
5EGR1_23403033_ChIP-Seq_LIVER_Mouse5.26260044
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.32624973
7* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.93946896
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.58872052
9GBX2_23144817_ChIP-Seq_PC3_Human3.28650222
10PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.19803780
11KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.05992160
12KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.05992160
13KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.05992160
14CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.99101567
15EZH2_22144423_ChIP-Seq_EOC_Human2.88212278
16RBPJ_22232070_ChIP-Seq_NCS_Mouse2.83043281
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.29203421
18SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.19897566
19NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.14846873
20* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.13293541
21POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.10195742
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.08569927
23SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.06150988
24WT1_19549856_ChIP-ChIP_CCG9911_Human2.06035310
25FUS_26573619_Chip-Seq_HEK293_Human1.88507406
26EP300_21415370_ChIP-Seq_HL-1_Mouse1.84379374
27IGF1R_20145208_ChIP-Seq_DFB_Human1.80749918
28P300_19829295_ChIP-Seq_ESCs_Human1.78100216
29* SMAD4_21799915_ChIP-Seq_A2780_Human1.75713328
30SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.73486001
31TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.71107180
32SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.70504862
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70434900
34MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.70145339
35TAF15_26573619_Chip-Seq_HEK293_Human1.70098437
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.68762691
37* FOXA2_19822575_ChIP-Seq_HepG2_Human1.68163886
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.66108654
39TCF3_18692474_ChIP-Seq_MESCs_Mouse1.64815441
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.61764103
41ESR1_15608294_ChIP-ChIP_MCF-7_Human1.61724447
42CDX2_19796622_ChIP-Seq_MESCs_Mouse1.61714367
43STAT3_23295773_ChIP-Seq_U87_Human1.61214811
44NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.61069188
45CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56808552
46NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.56620313
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56499740
48TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.55767505
49HNF4A_19822575_ChIP-Seq_HepG2_Human1.54210558
50REST_21632747_ChIP-Seq_MESCs_Mouse1.53493119
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.52889840
52* FLI1_27457419_Chip-Seq_LIVER_Mouse1.51112886
53CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.49192663
54ZNF217_24962896_ChIP-Seq_MCF-7_Human1.45360397
55TCF3_18692474_ChIP-Seq_MEFs_Mouse1.45037555
56POU5F1_16518401_ChIP-PET_MESCs_Mouse1.44358563
57SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.44214233
58THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.42101764
59STAT3_1855785_ChIP-Seq_MESCs_Mouse1.41435345
60TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.39979173
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39737203
62SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.39446979
63TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37873164
64RNF2_18974828_ChIP-Seq_MESCs_Mouse1.36903907
65EZH2_18974828_ChIP-Seq_MESCs_Mouse1.36903907
66* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.35524157
67TCF4_23295773_ChIP-Seq_U87_Human1.35088778
68SMAD3_21741376_ChIP-Seq_HESCs_Human1.34754054
69JARID2_20064375_ChIP-Seq_MESCs_Mouse1.34547832
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34364453
71* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.34234660
72* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.33417120
73SOX9_26525672_Chip-Seq_HEART_Mouse1.32582570
74SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.32553540
75RXRA_24833708_ChIP-Seq_LIVER_Mouse1.31820834
76STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.31133343
77EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30743766
78EZH2_27304074_Chip-Seq_ESCs_Mouse1.29599882
79TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28941515
80ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.27732051
81STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.26956016
82* NANOG_18555785_Chip-Seq_ESCs_Mouse1.26610832
83* SMAD4_21741376_ChIP-Seq_HESCs_Human1.26156727
84SOX2_21211035_ChIP-Seq_LN229_Gbm1.25114844
85* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24959714
86NANOG_16518401_ChIP-PET_MESCs_Mouse1.23402401
87RARB_27405468_Chip-Seq_BRAIN_Mouse1.22571553
88LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21601728
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.20932582
90CTNNB1_20460455_ChIP-Seq_HCT116_Human1.20838201
91CTBP1_25329375_ChIP-Seq_LNCAP_Human1.20496443
92RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20422024
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.18970053
94GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17889177
95NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17315227
96HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.16964367
97HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.16962056
98* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.16873420
99* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.16873420
100* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.16332116
101TP53_18474530_ChIP-ChIP_U2OS_Human1.16224953
102PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.15439262
103EWS_26573619_Chip-Seq_HEK293_Human1.14268785
104EED_16625203_ChIP-ChIP_MESCs_Mouse1.14050447
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13818024
106POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13818024
107TP53_16413492_ChIP-PET_HCT116_Human1.13619402
108AR_19668381_ChIP-Seq_PC3_Human1.12596773
109ISL1_27105846_Chip-Seq_CPCs_Mouse1.11602105
110RNF2_27304074_Chip-Seq_ESCs_Mouse1.11233549
111GATA1_22025678_ChIP-Seq_K562_Human1.10900303
112CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.10268722
113AR_25329375_ChIP-Seq_VCAP_Human1.08545208
114UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07923667
115ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07882292
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.07765220
117RUNX2_22187159_ChIP-Seq_PCA_Human1.06872334
118SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.06713178
119GATA1_26923725_Chip-Seq_HPCs_Mouse1.06590900
120SMAD3_21741376_ChIP-Seq_ESCs_Human1.06442774
121* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.06246826
122* E2F1_18555785_Chip-Seq_ESCs_Mouse1.06047522
123DROSHA_22980978_ChIP-Seq_HELA_Human1.05942293
124KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05685565
125CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05288955
126SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.05080785
127ERG_21242973_ChIP-ChIP_JURKAT_Human1.05057207
128CBP_20019798_ChIP-Seq_JUKART_Human1.04973287
129IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04973287
130NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.03958128
131ESR2_21235772_ChIP-Seq_MCF-7_Human1.01784130
132TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00865638
133RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.00423926
134BP1_19119308_ChIP-ChIP_Hs578T_Human0.99633815
135CLOCK_20551151_ChIP-Seq_293T_Human0.99338984
136TBX3_20139965_ChIP-Seq_MESCs_Mouse0.99027685
137NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.98883222
138GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.95932232
139ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.92657404
140HTT_18923047_ChIP-ChIP_STHdh_Human0.92583964
141NANOG_18692474_ChIP-Seq_MESCs_Mouse0.92347590
142SOX2_18692474_ChIP-Seq_MESCs_Mouse0.91365860
143ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91324924
144ZFP281_18757296_ChIP-ChIP_E14_Mouse0.91056326
145NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.88977520
146ZNF263_19887448_ChIP-Seq_K562_Human0.87553269
147RARA_24833708_ChIP-Seq_LIVER_Mouse0.86662664
148POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.86495824
149RARB_24833708_ChIP-Seq_LIVER_Mouse0.81884625
150KDM2B_26808549_Chip-Seq_K562_Human0.80396605
151* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.80137212
152RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.79800492
153SOX2_27498859_Chip-Seq_STOMACH_Mouse0.77342678
154FOXM1_23109430_ChIP-Seq_U2OS_Human0.76913771
155SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76715226
156TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.76282884
157TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.75762839
158FOXO3_23340844_ChIP-Seq_DLD1_Human0.75058591
159AR_21909140_ChIP-Seq_LNCAP_Human0.74924126
160SALL1_21062744_ChIP-ChIP_HESCs_Human0.74432112
161OCT4_18692474_ChIP-Seq_MEFs_Mouse0.74344632
162LXR_22292898_ChIP-Seq_THP-1_Human0.73957435
163SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.73825396
164IRF1_19129219_ChIP-ChIP_H3396_Human0.71963305
165CREB1_26743006_Chip-Seq_LNCaP_Human0.71870291
166ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.71059801
167CDX2_20551321_ChIP-Seq_CACO-2_Human0.70896375
168NANOG_18692474_ChIP-Seq_MEFs_Mouse0.70031623
169ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.69930817
170E2F7_22180533_ChIP-Seq_HELA_Human0.69515095
171GATA6_25053715_ChIP-Seq_YYC3_Human0.68793090
172FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.66990649
173SMC4_20622854_ChIP-Seq_HELA_Human0.66667888
174PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.66171609
175SPI1_26923725_Chip-Seq_HPCs_Mouse0.65970022
176GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.64195975
177SOX2_18692474_ChIP-Seq_MEFs_Mouse0.63997806
178* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.63444024
179FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.63119067
180NCOR1_26117541_ChIP-Seq_K562_Human0.63046885
181KAP1_27257070_Chip-Seq_ESCs_Mouse0.61003508
182* ESET_19884257_ChIP-Seq_ESCs_Mouse0.59846578
183P68_20966046_ChIP-Seq_HELA_Human0.58506012
184PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.58297457
185NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.57928630
186* GATA4_25053715_ChIP-Seq_YYC3_Human0.56213600
187REST_18959480_ChIP-ChIP_MESCs_Mouse0.56028136
188RACK7_27058665_Chip-Seq_MCF-7_Human0.55777620

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.98081523
2MP0005360_urolithiasis7.17972613
3MP0005085_abnormal_gallbladder_physiolo5.91860775
4MP0005365_abnormal_bile_salt5.87447285
5MP0008875_abnormal_xenobiotic_pharmacok4.60503255
6MP0003806_abnormal_nucleotide_metabolis4.06693528
7MP0003252_abnormal_bile_duct3.81729091
8MP0010329_abnormal_lipoprotein_level3.50573271
9MP0009840_abnormal_foam_cell3.28169146
10MP0005083_abnormal_biliary_tract3.18362368
11MP0004270_analgesia2.80529689
12MP0005332_abnormal_amino_acid2.50153661
13MP0003011_delayed_dark_adaptation2.49990384
14MP0003880_abnormal_central_pattern2.41962878
15MP0003705_abnormal_hypodermis_morpholog2.22554040
16MP0000609_abnormal_liver_physiology2.15538399
17MP0001666_abnormal_nutrient_absorption2.12578402
18MP0002254_reproductive_system_inflammat2.11024730
19MP0004019_abnormal_vitamin_homeostasis1.98991245
20MP0003122_maternal_imprinting1.97780008
21MP0005423_abnormal_somatic_nervous1.96288238
22* MP0000778_abnormal_nervous_system1.94868835
23MP0003635_abnormal_synaptic_transmissio1.91719697
24MP0002118_abnormal_lipid_homeostasis1.90823955
25MP0003195_calcinosis1.89164124
26MP0001299_abnormal_eye_distance/1.86301986
27MP0003191_abnormal_cellular_cholesterol1.83449654
28MP0001486_abnormal_startle_reflex1.79340440
29MP0005319_abnormal_enzyme/_coenzyme1.78739246
30MP0004264_abnormal_extraembryonic_tissu1.76236850
31MP0002734_abnormal_mechanical_nocicepti1.70067321
32* MP0002063_abnormal_learning/memory/cond1.57042668
33MP0003868_abnormal_feces_composition1.56625441
34MP0003123_paternal_imprinting1.55666186
35MP0003890_abnormal_embryonic-extraembry1.51594314
36MP0001984_abnormal_olfaction1.50303941
37* MP0002272_abnormal_nervous_system1.46526349
38MP0002064_seizures1.46425453
39MP0009780_abnormal_chondrocyte_physiolo1.44084935
40MP0006035_abnormal_mitochondrial_morpho1.42835617
41MP0004272_abnormal_basement_membrane1.42292442
42MP0004084_abnormal_cardiac_muscle1.39794582
43MP0002837_dystrophic_cardiac_calcinosis1.35996669
44MP0003121_genomic_imprinting1.35641820
45MP0005584_abnormal_enzyme/coenzyme_acti1.32944624
46MP0009745_abnormal_behavioral_response1.31270059
47MP0000569_abnormal_digit_pigmentation1.29572893
48MP0004145_abnormal_muscle_electrophysio1.27894389
49* MP0002572_abnormal_emotion/affect_behav1.27561955
50MP0003787_abnormal_imprinting1.26760593
51MP0003941_abnormal_skin_development1.26427478
52* MP0000955_abnormal_spinal_cord1.26128934
53* MP0004811_abnormal_neuron_physiology1.22688478
54MP0009384_cardiac_valve_regurgitation1.21470931
55MP0003385_abnormal_body_wall1.20143827
56* MP0002184_abnormal_innervation1.18912165
57MP0001177_atelectasis1.18198620
58MP0006276_abnormal_autonomic_nervous1.17775082
59MP0005266_abnormal_metabolism1.16669093
60MP0004215_abnormal_myocardial_fiber1.16569390
61MP0000598_abnormal_liver_morphology1.15867947
62MP0008877_abnormal_DNA_methylation1.14513879
63MP0001529_abnormal_vocalization1.13293968
64MP0001764_abnormal_homeostasis1.12441335
65MP0003937_abnormal_limbs/digits/tail_de1.12029436
66MP0005623_abnormal_meninges_morphology1.11321970
67MP0008569_lethality_at_weaning1.10566532
68MP0002736_abnormal_nociception_after1.10520256
69MP0002138_abnormal_hepatobiliary_system1.10344657
70MP0000751_myopathy1.08712159
71MP0002233_abnormal_nose_morphology1.08702716
72MP0002557_abnormal_social/conspecific_i1.08390204
73* MP0002882_abnormal_neuron_morphology1.07778745
74MP0002234_abnormal_pharynx_morphology1.07247072
75MP0005647_abnormal_sex_gland1.05004322
76MP0003861_abnormal_nervous_system1.04744504
77MP0004858_abnormal_nervous_system1.04246584
78* MP0002152_abnormal_brain_morphology1.02125016
79MP0002697_abnormal_eye_size1.00953859
80MP0002084_abnormal_developmental_patter1.00813210
81MP0000604_amyloidosis1.00607968
82MP0003119_abnormal_digestive_system0.99625381
83MP0009697_abnormal_copulation0.98679796
84MP0006054_spinal_hemorrhage0.97313679
85MP0000428_abnormal_craniofacial_morphol0.97140393
86MP0002067_abnormal_sensory_capabilities0.96811539
87MP0005451_abnormal_body_composition0.96397383
88MP0003656_abnormal_erythrocyte_physiolo0.96329992
89MP0004924_abnormal_behavior0.96005912
90MP0005386_behavior/neurological_phenoty0.96005912
91MP0001968_abnormal_touch/_nociception0.95966712
92MP0003755_abnormal_palate_morphology0.94301528
93MP0008961_abnormal_basal_metabolism0.92979943
94MP0002332_abnormal_exercise_endurance0.92099281
95MP0004036_abnormal_muscle_relaxation0.91948068
96MP0005409_darkened_coat_color0.89435715
97MP0003283_abnormal_digestive_organ0.89023425
98* MP0002066_abnormal_motor_capabilities/c0.88807448
99MP0009053_abnormal_anal_canal0.88247086
100MP0005551_abnormal_eye_electrophysiolog0.87927150
101MP0003567_abnormal_fetal_cardiomyocyte0.87039513
102MP0003329_amyloid_beta_deposits0.85848010
103MP0003632_abnormal_nervous_system0.83931384
104MP0002638_abnormal_pupillary_reflex0.82772955
105MP0002735_abnormal_chemical_nociception0.81771393
106MP0004085_abnormal_heartbeat0.81333330
107MP0000749_muscle_degeneration0.81183968
108MP0005075_abnormal_melanosome_morpholog0.80358450
109MP0005376_homeostasis/metabolism_phenot0.80336061
110MP0001286_abnormal_eye_development0.80098958
111MP0006292_abnormal_olfactory_placode0.79730219
112MP0000534_abnormal_ureter_morphology0.79722919
113MP0004147_increased_porphyrin_level0.79600509
114MP0002081_perinatal_lethality0.79053947
115MP0003935_abnormal_craniofacial_develop0.78797493
116MP0009046_muscle_twitch0.78769292
117MP0009643_abnormal_urine_homeostasis0.78479401
118MP0009672_abnormal_birth_weight0.78300114
119MP0010030_abnormal_orbit_morphology0.77651121
120MP0001501_abnormal_sleep_pattern0.77536655
121MP0004043_abnormal_pH_regulation0.77125838
122MP0003137_abnormal_impulse_conducting0.76658618
123MP0003690_abnormal_glial_cell0.76072223
124* MP0002752_abnormal_somatic_nervous0.75840162
125MP0001502_abnormal_circadian_rhythm0.75821303
126MP0003633_abnormal_nervous_system0.75376236
127MP0002078_abnormal_glucose_homeostasis0.74756448
128MP0002938_white_spotting0.74443467
129MP0010368_abnormal_lymphatic_system0.74371270
130MP0003942_abnormal_urinary_system0.73381513
131MP0001440_abnormal_grooming_behavior0.72690294
132MP0001915_intracranial_hemorrhage0.72485547
133MP0004133_heterotaxia0.72028629
134MP0005620_abnormal_muscle_contractility0.71591098
135MP0005248_abnormal_Harderian_gland0.71400031
136* MP0004087_abnormal_muscle_fiber0.71341762
137MP0003631_nervous_system_phenotype0.70820328
138MP0008872_abnormal_physiological_respon0.70605158
139MP0006036_abnormal_mitochondrial_physio0.70466233
140* MP0009763_increased_sensitivity_to0.68452169
141MP0001672_abnormal_embryogenesis/_devel0.63101498
142MP0005380_embryogenesis_phenotype0.63101498
143MP0000639_abnormal_adrenal_gland0.62686916
144MP0003186_abnormal_redox_activity0.59717183
145MP0009642_abnormal_blood_homeostasis0.59323162
146MP0002970_abnormal_white_adipose0.58917491
147MP0002971_abnormal_brown_adipose0.58803611
148MP0002088_abnormal_embryonic_growth/wei0.58689748
149MP0003984_embryonic_growth_retardation0.56621311
150MP0002092_abnormal_eye_morphology0.55537653
151MP0003718_maternal_effect0.54215362
152MP0008057_abnormal_DNA_replication0.53633831
153MP0009703_decreased_birth_body0.52556710
154MP0009764_decreased_sensitivity_to0.52221382
155MP0005499_abnormal_olfactory_system0.51898272
156MP0005394_taste/olfaction_phenotype0.51898272
157* MP0009765_abnormal_xenobiotic_induced0.51780841
158MP0005448_abnormal_energy_balance0.51720897
159MP0008874_decreased_physiological_sensi0.50512744
160MP0002086_abnormal_extraembryonic_tissu0.50442995
161MP0001849_ear_inflammation0.49325159
162MP0010352_gastrointestinal_tract_polyps0.48593650
163MP0005535_abnormal_body_temperature0.47738611
164MP0002653_abnormal_ependyma_morphology0.46876990
165MP0001661_extended_life_span0.46478192
166MP0004885_abnormal_endolymph0.46223380
167MP0009115_abnormal_fat_cell0.45883053
168MP0005670_abnormal_white_adipose0.45253273
169MP0005334_abnormal_fat_pad0.43545322
170MP0005408_hypopigmentation0.43432621
171MP0005257_abnormal_intraocular_pressure0.43318560
172MP0005636_abnormal_mineral_homeostasis0.43226783
173MP0008770_decreased_survivor_rate0.41805228
174MP0005187_abnormal_penis_morphology0.41391292
175* MP0002269_muscular_atrophy0.41245683
176MP0004197_abnormal_fetal_growth/weight/0.40510255
177MP0002127_abnormal_cardiovascular_syste0.40040174
178MP0004859_abnormal_synaptic_plasticity0.38024572
179MP0003953_abnormal_hormone_level0.37133125
180MP0003699_abnormal_female_reproductive0.36824064
181MP0001324_abnormal_eye_pigmentation0.36699607
182MP0005395_other_phenotype0.36283703
183MP0008469_abnormal_protein_level0.35680792
184MP0001730_embryonic_growth_arrest0.34220405
185MP0004142_abnormal_muscle_tone0.33752324
186MP0001293_anophthalmia0.33644247

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.57432774
2Deep venous thrombosis (HP:0002625)6.44421925
3Abnormality of aromatic amino acid family metabolism (HP:0004338)5.93957354
4Abnormality of monocarboxylic acid metabolism (HP:0010996)5.83944715
5Hypobetalipoproteinemia (HP:0003563)5.75566449
6Hypochromic microcytic anemia (HP:0004840)5.58954596
7Xanthomatosis (HP:0000991)5.53145024
8Prolonged partial thromboplastin time (HP:0003645)5.02538871
9Hyperlipoproteinemia (HP:0010980)4.57342451
10Hyperglycinemia (HP:0002154)4.53581915
11Hypolipoproteinemia (HP:0010981)4.40624236
12Hyperglycinuria (HP:0003108)4.38266198
13Complement deficiency (HP:0004431)4.28730744
14Epidermoid cyst (HP:0200040)4.08354414
15Hyperammonemia (HP:0001987)4.07954644
16Abnormality of glycine metabolism (HP:0010895)4.06695833
17Abnormality of serine family amino acid metabolism (HP:0010894)4.06695833
18Hypoalphalipoproteinemia (HP:0003233)3.93536987
19Abnormality of sulfur amino acid metabolism (HP:0004339)3.92575094
20Abnormality of the intrinsic pathway (HP:0010989)3.86845436
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.84691889
22Joint hemorrhage (HP:0005261)3.72185373
23Ketosis (HP:0001946)3.64747995
24Abnormality of the common coagulation pathway (HP:0010990)3.58795316
25Abnormality of methionine metabolism (HP:0010901)3.54370932
26Abnormality of glutamine family amino acid metabolism (HP:0010902)3.45691164
27Abnormality of aspartate family amino acid metabolism (HP:0010899)3.45215273
28Fat malabsorption (HP:0002630)3.35824334
29Skin nodule (HP:0200036)3.35112398
30Abnormality of pyrimidine metabolism (HP:0004353)3.31113255
31Hypercholesterolemia (HP:0003124)3.26753217
32Gout (HP:0001997)3.13242141
33Abnormality of complement system (HP:0005339)3.07415613
34Status epilepticus (HP:0002133)3.05132784
35Hyperinsulinemic hypoglycemia (HP:0000825)3.03809616
36Hepatoblastoma (HP:0002884)2.98636927
37Conjugated hyperbilirubinemia (HP:0002908)2.94846571
38Myokymia (HP:0002411)2.87873028
39Hyperbilirubinemia (HP:0002904)2.87299502
40Hypoglycemic coma (HP:0001325)2.78450697
41Abnormality of nucleobase metabolism (HP:0010932)2.77551592
42Delayed CNS myelination (HP:0002188)2.71894217
43Abnormality of serum amino acid levels (HP:0003112)2.71706647
44Malnutrition (HP:0004395)2.70913926
45Ketoacidosis (HP:0001993)2.65899291
46Focal motor seizures (HP:0011153)2.65484211
47Spastic diplegia (HP:0001264)2.63241535
48Hepatocellular carcinoma (HP:0001402)2.61219805
49* Tetraplegia (HP:0002445)2.60005054
50Focal seizures (HP:0007359)2.59888505
51Abnormal cartilage morphology (HP:0002763)2.55270543
52Spontaneous abortion (HP:0005268)2.51145742
53Myocardial infarction (HP:0001658)2.50972532
54Abnormality of purine metabolism (HP:0004352)2.50770760
55Febrile seizures (HP:0002373)2.48508398
56* Abnormality of the lower motor neuron (HP:0002366)2.46822456
57Irritability (HP:0000737)2.46689777
58Acanthocytosis (HP:0001927)2.40440685
59Cholelithiasis (HP:0001081)2.38758531
60Abnormal gallbladder morphology (HP:0012437)2.35776804
61Ependymoma (HP:0002888)2.28872449
62Abnormality of the ischium (HP:0003174)2.28084022
63Bilateral microphthalmos (HP:0007633)2.27467970
64Reticulocytosis (HP:0001923)2.27313770
65Metabolic acidosis (HP:0001942)2.25304460
66Multiple enchondromatosis (HP:0005701)2.25091161
67Papillary thyroid carcinoma (HP:0002895)2.24517549
68Steatorrhea (HP:0002570)2.21834727
69Atonic seizures (HP:0010819)2.21343714
70Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.20657768
71Bundle branch block (HP:0011710)2.18161826
72Hyperventilation (HP:0002883)2.16013279
73Poikilocytosis (HP:0004447)2.13395733
74* Drooling (HP:0002307)2.12143344
75Heterotopia (HP:0002282)2.08398956
76Impulsivity (HP:0100710)2.06268720
77Impaired vibration sensation in the lower limbs (HP:0002166)2.04630612
78Abnormality of fatty-acid metabolism (HP:0004359)2.04329876
79Vertebral arch anomaly (HP:0008438)2.03980899
80Lower limb muscle weakness (HP:0007340)2.02327619
81Urinary urgency (HP:0000012)2.01969935
82Neoplasm of striated muscle (HP:0009728)1.98477393
83Confusion (HP:0001289)1.96328364
84Ragged-red muscle fibers (HP:0003200)1.96320713
85Cutaneous finger syndactyly (HP:0010554)1.95464091
86Progressive cerebellar ataxia (HP:0002073)1.93921596
87Horizontal nystagmus (HP:0000666)1.93337019
88Bifid tongue (HP:0010297)1.92565399
89Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.91464600
90Urinary bladder sphincter dysfunction (HP:0002839)1.90865330
91Overgrowth (HP:0001548)1.90031815
92Increased purine levels (HP:0004368)1.89736260
93Hyperuricemia (HP:0002149)1.89736260
94Vascular calcification (HP:0004934)1.89449121
95Rhabdomyosarcoma (HP:0002859)1.87653536
96Abnormal gallbladder physiology (HP:0012438)1.87580010
97Cholecystitis (HP:0001082)1.87580010
98Hypoplastic ischia (HP:0003175)1.87444426
99Epileptic encephalopathy (HP:0200134)1.86778052
100Amyloidosis (HP:0011034)1.86360514
101* Spastic gait (HP:0002064)1.86195985
102Intention tremor (HP:0002080)1.85832327
103Hypoglycemic seizures (HP:0002173)1.85305093
104Neonatal onset (HP:0003623)1.84473297
105Esophageal varix (HP:0002040)1.83933690
106Hypochromic anemia (HP:0001931)1.83151431
107Hypopigmentation of the fundus (HP:0007894)1.82730849
108Action tremor (HP:0002345)1.82393471
109Lethargy (HP:0001254)1.82271551
110Generalized tonic-clonic seizures (HP:0002069)1.81966136
111Abnormal enzyme/coenzyme activity (HP:0012379)1.81041682
112Bile duct proliferation (HP:0001408)1.80495971
113Abnormal biliary tract physiology (HP:0012439)1.80495971
114Astrocytoma (HP:0009592)1.80046105
115Abnormality of the astrocytes (HP:0100707)1.80046105
116Dysmetric saccades (HP:0000641)1.79641446
117Abnormality of the gallbladder (HP:0005264)1.77924396
118Limb dystonia (HP:0002451)1.77693855
119Aqueductal stenosis (HP:0002410)1.77236550
120Genetic anticipation (HP:0003743)1.75768721
121Rickets (HP:0002748)1.73965866
122Abnormality of the labia minora (HP:0012880)1.73756806
123Arterial tortuosity (HP:0005116)1.73177599
124* Excessive salivation (HP:0003781)1.71617903
125Cutaneous syndactyly (HP:0012725)1.71364033
126Abnormal hair whorl (HP:0010721)1.71308365
127Dicarboxylic aciduria (HP:0003215)1.70226752
128Abnormality of dicarboxylic acid metabolism (HP:0010995)1.70226752
129Vascular tortuosity (HP:0004948)1.70214105
130Broad-based gait (HP:0002136)1.69433965
131Hyperglycemia (HP:0003074)1.68790943
132Global brain atrophy (HP:0002283)1.68699065
133Omphalocele (HP:0001539)1.68595544
134Volvulus (HP:0002580)1.67475179
135Exercise-induced muscle cramps (HP:0003710)1.67362101
136Abnormality of transition element cation homeostasis (HP:0011030)1.67088678
137Preaxial foot polydactyly (HP:0001841)1.66498082
138Ankle clonus (HP:0011448)1.66047184
139Neoplasm of the liver (HP:0002896)1.65328847
140Cystic hygroma (HP:0000476)1.58532253
141Insidious onset (HP:0003587)1.58233030
142Termporal pattern (HP:0011008)1.58233030
143Dysmetria (HP:0001310)1.54701263
144Bowel diverticulosis (HP:0005222)1.54285247
145Chronic hepatic failure (HP:0100626)1.54252611
146Mild short stature (HP:0003502)1.53083366
147Intellectual disability, moderate (HP:0002342)1.52996940
148Intestinal atresia (HP:0011100)1.50715900
149Wide anterior fontanel (HP:0000260)1.50652315
150Sudden death (HP:0001699)1.50401676
151Hammertoe (HP:0001765)1.49842607
152Long clavicles (HP:0000890)1.49341452
153Scanning speech (HP:0002168)1.48441696
154Renovascular hypertension (HP:0100817)1.47568121
155Overriding aorta (HP:0002623)1.46617860
156Fetal akinesia sequence (HP:0001989)1.46510155
157Hemiparesis (HP:0001269)1.45393952
158Pulmonic stenosis (HP:0001642)1.44273979
159Epileptiform EEG discharges (HP:0011182)1.42855099
160Diastasis recti (HP:0001540)1.40128081
161Megalencephaly (HP:0001355)1.40100859
162Obsessive-compulsive behavior (HP:0000722)1.39975162
163Neoplasm of the oral cavity (HP:0100649)1.39911234
164Specific learning disability (HP:0001328)1.39249587
165Heart block (HP:0012722)1.38958544
166Dysdiadochokinesis (HP:0002075)1.38352213
167Abnormality of the left ventricular outflow tract (HP:0011103)1.36811513
168Subaortic stenosis (HP:0001682)1.36811513
169* Abnormality of the corticospinal tract (HP:0002492)1.36318587
170Impaired social interactions (HP:0000735)1.35184339
171Abnormal social behavior (HP:0012433)1.35184339
172Gaze-evoked nystagmus (HP:0000640)1.34727037
173Insomnia (HP:0100785)1.34427835
174Depression (HP:0000716)1.34375954
175Tetraparesis (HP:0002273)1.34286135
176Broad alveolar ridges (HP:0000187)1.33628056
177Torticollis (HP:0000473)1.33375244
178Broad palm (HP:0001169)1.32404222
179EEG with generalized epileptiform discharges (HP:0011198)1.32388893
180Myelomeningocele (HP:0002475)1.32175733
181Poor eye contact (HP:0000817)1.32082787
182Limited hip movement (HP:0008800)1.31579488
183Renal duplication (HP:0000075)1.31535235
184Osteomalacia (HP:0002749)1.31419015
185Abnormality of the antihelix (HP:0009738)1.30721610
186Micropenis (HP:0000054)1.30183932
187Obstructive sleep apnea (HP:0002870)1.30096305
188Relative macrocephaly (HP:0004482)1.30087822
189Microglossia (HP:0000171)1.29420758
190Increased nuchal translucency (HP:0010880)1.29013600
191Cortical dysplasia (HP:0002539)1.28578766
192Vitreoretinal degeneration (HP:0000655)1.28520041
193Hypsarrhythmia (HP:0002521)1.27663529
194Short foot (HP:0001773)1.27262472
195Shallow orbits (HP:0000586)1.25938730
196Abnormal connection of the cardiac segments (HP:0011545)1.25900705
197Abnormal ventriculo-arterial connection (HP:0011563)1.25900705

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK126.52356527
2ERN13.72407180
3BCKDK3.10006946
4MAP2K42.85062494
5GRK52.82273352
6PNCK2.62275839
7SIK12.57848278
8PRKD32.57639115
9GRK62.56791273
10TYRO32.36934988
11RIPK12.05495631
12FGFR41.98290342
13CASK1.97525573
14TTK1.90094075
15GRK11.78100262
16MINK11.70263520
17PLK21.65336784
18BCR1.64362675
19WNK11.62820065
20CSF1R1.60260988
21ERBB41.58942297
22TNIK1.58928345
23LATS11.57189163
24MAPK71.51948228
25MKNK21.46906317
26ERBB31.44276982
27CAMK41.41545996
28STK381.37202339
29MAP3K41.33755986
30OBSCN1.30340561
31LATS21.29300860
32SGK4941.28434517
33SGK2231.28434517
34PKN21.25677161
35MAP3K91.24879434
36CAMK1D1.24733828
37ALK1.23477164
38DAPK21.20617942
39AKT31.16084554
40MAP3K71.15203609
41WNK31.12807512
42FRK1.12743551
43PAK61.11967155
44DMPK1.10947644
45BMPR1B1.08447629
46ICK1.05980196
47MTOR1.02327625
48PTK61.01987630
49PLK40.98899511
50STK30.97678679
51PRKCH0.97106703
52STK390.97069246
53CAMKK10.96326251
54NEK10.95342896
55EPHA20.94617357
56MAPK110.94365001
57INSRR0.94312358
58UHMK10.93274692
59PRKAA10.92440260
60EIF2AK30.92297435
61MATK0.90823215
62PINK10.90012823
63TAOK30.89931268
64MAP3K100.88859954
65CAMK1G0.87146635
66FGFR30.86902659
67MKNK10.86894389
68PBK0.86527241
69ERBB20.86248099
70TRIB30.85727521
71ADRBK20.85550277
72NEK20.85322101
73DYRK1A0.85219978
74PDGFRA0.84682246
75PTK20.83694464
76TIE10.83342810
77NTRK10.81292082
78CDK50.80378707
79TRIM280.80180173
80PRKCG0.79801941
81BRD40.78022428
82PAK30.77033414
83PRKCE0.75951981
84SGK30.75342086
85MAPK130.75261019
86NTRK30.73079537
87CDK70.73031199
88NEK90.71874673
89PHKG10.71766780
90PHKG20.71766780
91PLK30.71410952
92MAPK120.71113286
93KSR10.69814768
94TGFBR20.69507248
95ACVR1B0.69388325
96CAMK10.69382707
97PAK20.69096544
98CDK40.69043128
99MAP2K70.68866786
100JAK20.68463653
101MAP2K60.68355174
102CAMKK20.68252374
103CAMK2A0.68121096
104NTRK20.66136265
105PLK10.65091399
106NUAK10.63488323
107BMX0.63191609
108CHEK10.62674568
109AKT20.62526787
110STK100.62519441
111ROCK20.62416996
112FER0.62251781
113FLT30.61994690
114MARK10.61644233
115CDK60.60831266
116SGK10.60231544
117ROCK10.60003695
118MET0.59504231
119CSNK1E0.58935466
120MARK20.58035930
121PRKACG0.57788652
122CHEK20.57709066
123CAMK2B0.57314733
124PRKAA20.56410619
125RPS6KB10.56266000
126EEF2K0.55138455
127CSNK1G20.54998560
128STK38L0.54683293
129CDK180.53414450
130MOS0.53129481
131FGFR20.52620768
132LIMK10.52416247
133PRKDC0.52354859
134CDK20.51975789
135RPS6KA30.51962871
136CAMK2D0.51036239
137FGFR10.50292943
138CDK150.49936279
139KSR20.49260772
140ABL20.48493473
141RPS6KA20.47358154
142PDK10.46644115
143BRSK20.46169939
144TTN0.46039661
145ATM0.45696040
146CDC70.45293655
147DYRK20.44977515
148MAPK100.44909215
149RET0.44814633
150CSK0.44725016
151MAP2K30.44440747
152PAK40.43704345
153PRKCZ0.42275261
154CSNK1D0.41295202
155PRKG20.40938430
156SIK20.40262556
157SGK20.40163083
158GSK3A0.39661278
159EPHA40.38215405
160CDK10.37498373
161TYK20.36197605
162PRKACB0.35676728

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.18404785
2Nitrogen metabolism_Homo sapiens_hsa009104.08143474
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.47553111
4Arginine biosynthesis_Homo sapiens_hsa002203.20576564
5Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.18078729
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.67568065
7Tryptophan metabolism_Homo sapiens_hsa003802.59973366
8Vitamin B6 metabolism_Homo sapiens_hsa007502.56445547
9Complement and coagulation cascades_Homo sapiens_hsa046102.54525922
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.52033252
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.50834395
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.26241903
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.21416455
14Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002502.18271426
15Fatty acid degradation_Homo sapiens_hsa000712.14149008
16Butanoate metabolism_Homo sapiens_hsa006502.10146458
17Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.91588117
18Bile secretion_Homo sapiens_hsa049761.86149439
19Chemical carcinogenesis_Homo sapiens_hsa052041.74000485
20PPAR signaling pathway_Homo sapiens_hsa033201.72538855
21Peroxisome_Homo sapiens_hsa041461.67801280
22Synaptic vesicle cycle_Homo sapiens_hsa047211.67745636
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.67554603
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.65936027
25Selenocompound metabolism_Homo sapiens_hsa004501.64348605
26Insulin secretion_Homo sapiens_hsa049111.61730282
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.61467894
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.59616102
29Fatty acid metabolism_Homo sapiens_hsa012121.59569131
30Circadian entrainment_Homo sapiens_hsa047131.57979275
31Propanoate metabolism_Homo sapiens_hsa006401.56242394
32Dilated cardiomyopathy_Homo sapiens_hsa054141.55129606
33Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.51823731
34Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.51487611
35Retinol metabolism_Homo sapiens_hsa008301.50173111
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.47083878
37Histidine metabolism_Homo sapiens_hsa003401.41685071
38Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.41633775
39beta-Alanine metabolism_Homo sapiens_hsa004101.41276310
40Biosynthesis of amino acids_Homo sapiens_hsa012301.39448910
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.39276504
42Hippo signaling pathway_Homo sapiens_hsa043901.37904855
43Dopaminergic synapse_Homo sapiens_hsa047281.35940930
44Amphetamine addiction_Homo sapiens_hsa050311.35689351
45Adherens junction_Homo sapiens_hsa045201.35135559
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.35035449
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34248341
48Staphylococcus aureus infection_Homo sapiens_hsa051501.27591919
49Caffeine metabolism_Homo sapiens_hsa002321.24789736
50Morphine addiction_Homo sapiens_hsa050321.24352671
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.23678725
52ABC transporters_Homo sapiens_hsa020101.22758952
53Carbon metabolism_Homo sapiens_hsa012001.19274860
54Axon guidance_Homo sapiens_hsa043601.17920985
55Folate biosynthesis_Homo sapiens_hsa007901.17621024
56Lysine degradation_Homo sapiens_hsa003101.17292724
57Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17080584
58Cyanoamino acid metabolism_Homo sapiens_hsa004601.16209297
59Starch and sucrose metabolism_Homo sapiens_hsa005001.14795465
60Tight junction_Homo sapiens_hsa045301.13871785
61Circadian rhythm_Homo sapiens_hsa047101.13381742
62Phenylalanine metabolism_Homo sapiens_hsa003601.13214020
63Fat digestion and absorption_Homo sapiens_hsa049751.13037725
64One carbon pool by folate_Homo sapiens_hsa006701.10786192
65Tyrosine metabolism_Homo sapiens_hsa003501.10280001
66Taste transduction_Homo sapiens_hsa047421.09131610
67Pyruvate metabolism_Homo sapiens_hsa006201.06967826
68Long-term depression_Homo sapiens_hsa047301.04645333
69Oxytocin signaling pathway_Homo sapiens_hsa049211.02514297
70Cocaine addiction_Homo sapiens_hsa050301.02153863
71Wnt signaling pathway_Homo sapiens_hsa043101.01211292
72Oocyte meiosis_Homo sapiens_hsa041141.01151174
73cAMP signaling pathway_Homo sapiens_hsa040241.00219804
74Hedgehog signaling pathway_Homo sapiens_hsa043400.98247871
75Cholinergic synapse_Homo sapiens_hsa047250.97234744
76ECM-receptor interaction_Homo sapiens_hsa045120.96368664
77Melanogenesis_Homo sapiens_hsa049160.95376667
78Gastric acid secretion_Homo sapiens_hsa049710.95047619
79Calcium signaling pathway_Homo sapiens_hsa040200.94950011
80Gap junction_Homo sapiens_hsa045400.94437887
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.93626682
82Fructose and mannose metabolism_Homo sapiens_hsa000510.92794284
83Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.92050463
84cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91194621
85Steroid biosynthesis_Homo sapiens_hsa001000.90570662
86Vitamin digestion and absorption_Homo sapiens_hsa049770.87354536
87Renin secretion_Homo sapiens_hsa049240.87149462
88Salivary secretion_Homo sapiens_hsa049700.86590680
89Maturity onset diabetes of the young_Homo sapiens_hsa049500.86581280
90Serotonergic synapse_Homo sapiens_hsa047260.83918085
91Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82931021
92Glycerolipid metabolism_Homo sapiens_hsa005610.82122944
93Olfactory transduction_Homo sapiens_hsa047400.80931916
94Dorso-ventral axis formation_Homo sapiens_hsa043200.80434013
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.79255730
96Focal adhesion_Homo sapiens_hsa045100.77131792
97Sulfur relay system_Homo sapiens_hsa041220.76875885
98Arginine and proline metabolism_Homo sapiens_hsa003300.75993359
99Fatty acid elongation_Homo sapiens_hsa000620.73901820
100Pentose phosphate pathway_Homo sapiens_hsa000300.73086889
101ErbB signaling pathway_Homo sapiens_hsa040120.72937327
102Protein digestion and absorption_Homo sapiens_hsa049740.72256574
103TGF-beta signaling pathway_Homo sapiens_hsa043500.71186882
104Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.69893714
105Estrogen signaling pathway_Homo sapiens_hsa049150.68991452
106mRNA surveillance pathway_Homo sapiens_hsa030150.65977070
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65616628
108Basal cell carcinoma_Homo sapiens_hsa052170.64449427
109Proteoglycans in cancer_Homo sapiens_hsa052050.63085742
110Glioma_Homo sapiens_hsa052140.61859148
111Galactose metabolism_Homo sapiens_hsa000520.61258229
112Sulfur metabolism_Homo sapiens_hsa009200.60156308
113Non-homologous end-joining_Homo sapiens_hsa034500.59664579
114Cardiac muscle contraction_Homo sapiens_hsa042600.59546150
115Fatty acid biosynthesis_Homo sapiens_hsa000610.57190221
116Pancreatic secretion_Homo sapiens_hsa049720.56878645
117Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56862194
118Rap1 signaling pathway_Homo sapiens_hsa040150.56010466
119Vascular smooth muscle contraction_Homo sapiens_hsa042700.54981386
120Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.51537368
121Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51463187
122MicroRNAs in cancer_Homo sapiens_hsa052060.51345237
123Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51278354
124Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50772259
125Glycerophospholipid metabolism_Homo sapiens_hsa005640.47813396
126Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.41371600
127Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.39574403
128Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39112568
129alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37396246
130Insulin resistance_Homo sapiens_hsa049310.36964368
131Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33913967
132Metabolic pathways_Homo sapiens_hsa011000.29491082
133mTOR signaling pathway_Homo sapiens_hsa041500.29111764
134Glutathione metabolism_Homo sapiens_hsa004800.28689355
135Linoleic acid metabolism_Homo sapiens_hsa005910.27130615
136AMPK signaling pathway_Homo sapiens_hsa041520.26853537
137Adipocytokine signaling pathway_Homo sapiens_hsa049200.26632933
138Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.26586307
139Prion diseases_Homo sapiens_hsa050200.24947566
140Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.22327500
141Glucagon signaling pathway_Homo sapiens_hsa049220.20772548
142Central carbon metabolism in cancer_Homo sapiens_hsa052300.17211086
143Ovarian steroidogenesis_Homo sapiens_hsa049130.16885061
144Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.14109078
145GABAergic synapse_Homo sapiens_hsa047270.13653634
146Longevity regulating pathway - mammal_Homo sapiens_hsa042110.13123679
147Nicotine addiction_Homo sapiens_hsa050330.13012128
148Glutamatergic synapse_Homo sapiens_hsa047240.12597887
149Type II diabetes mellitus_Homo sapiens_hsa049300.12418906
150Inositol phosphate metabolism_Homo sapiens_hsa005620.05018476
151Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.04606922
152Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.04317184
153Carbohydrate digestion and absorption_Homo sapiens_hsa049730.01805585
154Phosphatidylinositol signaling system_Homo sapiens_hsa040700.01112600
155Regulation of autophagy_Homo sapiens_hsa041400.00235745
156Long-term potentiation_Homo sapiens_hsa04720-0.0353169
157Insulin signaling pathway_Homo sapiens_hsa04910-0.0270071
158Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.0081194
159Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0076426

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