POMT2

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 is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of triglyceride catabolic process (GO:0010896)7.34679234
2negative regulation of fibroblast apoptotic process (GO:2000270)6.41090315
3macroautophagy (GO:0016236)6.02675178
4cellular extravasation (GO:0045123)5.69598030
5histone H3-K36 demethylation (GO:0070544)4.79923752
6COPI coating of Golgi vesicle (GO:0048205)4.72581873
7Golgi transport vesicle coating (GO:0048200)4.72581873
8hepatocyte apoptotic process (GO:0097284)4.61965530
9L-phenylalanine catabolic process (GO:0006559)4.59416044
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.59416044
11behavioral response to nicotine (GO:0035095)4.33202163
12mast cell degranulation (GO:0043303)4.23367357
13mast cell activation involved in immune response (GO:0002279)4.23367357
14L-phenylalanine metabolic process (GO:0006558)4.20492199
15erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.20492199
16negative regulation of lipid catabolic process (GO:0050995)3.89372646
17alpha-linolenic acid metabolic process (GO:0036109)3.88780135
18regulation of triglyceride metabolic process (GO:0090207)3.72745491
19amyloid precursor protein catabolic process (GO:0042987)3.66721625
20COPII vesicle coating (GO:0048208)3.59912734
21regulation of fibroblast apoptotic process (GO:2000269)3.42642886
22maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.37731956
23postsynaptic membrane organization (GO:0001941)3.35663198
24axon extension involved in axon guidance (GO:0048846)3.29718622
25neuron projection extension involved in neuron projection guidance (GO:1902284)3.29718622
26growth hormone receptor signaling pathway (GO:0060396)3.23463948
27establishment of protein localization to Golgi (GO:0072600)3.22034490
28activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.16976583
29regulation of lipid catabolic process (GO:0050994)3.14840900
30regulation of cholesterol homeostasis (GO:2000188)3.13329533
31phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.09898074
32endocrine pancreas development (GO:0031018)3.06120847
33aromatic amino acid family catabolic process (GO:0009074)3.02755735
34protein retention in ER lumen (GO:0006621)3.02301684
35epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.99440519
36positive regulation of nuclease activity (GO:0032075)2.98928336
37positive regulation of histone deacetylation (GO:0031065)2.98685872
38positive regulation of glycogen biosynthetic process (GO:0045725)2.98019118
39spinal cord development (GO:0021510)2.96577232
40insulin-like growth factor receptor signaling pathway (GO:0048009)2.95073360
41exocrine pancreas development (GO:0031017)2.94588593
42intracellular pH reduction (GO:0051452)2.94145026
43triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.92822725
44endoplasmic reticulum unfolded protein response (GO:0030968)2.90349203
45pyrimidine nucleobase catabolic process (GO:0006208)2.90016970
46vascular endothelial growth factor signaling pathway (GO:0038084)2.87471008
474-hydroxyproline metabolic process (GO:0019471)2.87301893
48neuroblast proliferation (GO:0007405)2.86673109
49axonal fasciculation (GO:0007413)2.85052477
50negative regulation of axon extension involved in axon guidance (GO:0048843)2.83577299
51cellular response to unfolded protein (GO:0034620)2.83009379
52nonmotile primary cilium assembly (GO:0035058)2.82507944
53negative regulation of axon guidance (GO:1902668)2.82267104
54presynaptic membrane assembly (GO:0097105)2.81862827
55negative regulation of macroautophagy (GO:0016242)2.81832321
56cell wall macromolecule catabolic process (GO:0016998)2.80805774
57cell wall macromolecule metabolic process (GO:0044036)2.80805774
58lysosome localization (GO:0032418)2.80437073
59lysine catabolic process (GO:0006554)2.79412928
60lysine metabolic process (GO:0006553)2.79412928
61tyrosine metabolic process (GO:0006570)2.79201555
62aspartate family amino acid catabolic process (GO:0009068)2.78693878
63regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.78570114
64retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.78495625
65cell proliferation in forebrain (GO:0021846)2.77674987
66cellular response to growth hormone stimulus (GO:0071378)2.76572237
67ER-nucleus signaling pathway (GO:0006984)2.76096108
68regulation of hippo signaling (GO:0035330)2.75836200
69positive regulation of glycogen metabolic process (GO:0070875)2.74925943
70lactate metabolic process (GO:0006089)2.74820478
71phosphatidylinositol phosphorylation (GO:0046854)2.73956154
72regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.72863334
73sulfur amino acid catabolic process (GO:0000098)2.72758654
74fusion of sperm to egg plasma membrane (GO:0007342)2.72755179
75ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)2.69883579
76phosphatidylinositol 3-kinase signaling (GO:0014065)2.68552233
77cell migration in hindbrain (GO:0021535)2.67916015
78cellular response to topologically incorrect protein (GO:0035967)2.67606835
79sperm motility (GO:0030317)2.65801997
80axon extension (GO:0048675)2.64992944
81induction of positive chemotaxis (GO:0050930)2.64452125
82glycosylceramide metabolic process (GO:0006677)2.64335450
83very long-chain fatty acid metabolic process (GO:0000038)2.64027646
84regulation of fatty acid beta-oxidation (GO:0031998)2.63862237
85glyoxylate metabolic process (GO:0046487)2.63165799
86regulation of nuclease activity (GO:0032069)2.63013886
87ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.62783484
88nucleoside bisphosphate biosynthetic process (GO:0033866)2.62783484
89purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.62783484
90positive regulation of glycolytic process (GO:0045821)2.61831200
91NLS-bearing protein import into nucleus (GO:0006607)2.61604421
92response to mercury ion (GO:0046689)2.61094690
93regulation of endothelial cell chemotaxis (GO:2001026)2.60620722
94regulation of axon guidance (GO:1902667)2.59109740
95glycerophospholipid catabolic process (GO:0046475)2.58339990
96positive regulation of fatty acid beta-oxidation (GO:0032000)2.58062161
97short-chain fatty acid metabolic process (GO:0046459)2.57597345
98regulation of axon extension involved in axon guidance (GO:0048841)2.56808208
99left/right pattern formation (GO:0060972)2.56485408
100negative regulation of heart contraction (GO:0045822)2.55814600
101negative regulation of fibrinolysis (GO:0051918)2.54418504
102reverse cholesterol transport (GO:0043691)2.53399616
103pH reduction (GO:0045851)2.52928124
104nephron epithelium morphogenesis (GO:0072088)2.52547351
105nephron tubule morphogenesis (GO:0072078)2.52547351
106establishment of monopolar cell polarity (GO:0061162)2.50443335
107establishment or maintenance of monopolar cell polarity (GO:0061339)2.50443335
108prostate gland growth (GO:0060736)2.50414388
109high-density lipoprotein particle remodeling (GO:0034375)2.50281559
110type B pancreatic cell development (GO:0003323)2.50029487
111presynaptic membrane organization (GO:0097090)2.49361979
112fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.48676937
113tricarboxylic acid metabolic process (GO:0072350)2.46689443
114camera-type eye morphogenesis (GO:0048593)2.45675239
115peptidyl-glutamic acid carboxylation (GO:0017187)2.43720556
116protein carboxylation (GO:0018214)2.43720556
117acylglycerol homeostasis (GO:0055090)2.43494328
118triglyceride homeostasis (GO:0070328)2.43494328
119L-alpha-amino acid transmembrane transport (GO:1902475)2.43383106
120drug transmembrane transport (GO:0006855)2.42620971
121neuron recognition (GO:0008038)2.42268136
122regulation of inclusion body assembly (GO:0090083)2.41833904
1233-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.41760575
124purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.41760575
125body morphogenesis (GO:0010171)2.41203820
126fatty-acyl-CoA biosynthetic process (GO:0046949)2.40942547
127regulation of short-term neuronal synaptic plasticity (GO:0048172)2.39836260
128long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.38431976
129embryonic body morphogenesis (GO:0010172)2.37511274
130limb development (GO:0060173)2.37388957
131appendage development (GO:0048736)2.37388957
132vesicle coating (GO:0006901)2.37341594
133amyloid precursor protein metabolic process (GO:0042982)2.36410633
134nucleobase catabolic process (GO:0046113)2.33293807
135epithelial cilium movement (GO:0003351)2.32343823
136establishment of planar polarity (GO:0001736)2.32041399
137establishment of tissue polarity (GO:0007164)2.32041399
138axon ensheathment in central nervous system (GO:0032291)2.31952118
139central nervous system myelination (GO:0022010)2.31952118
140retinal ganglion cell axon guidance (GO:0031290)2.31112736
141regulation of respiratory system process (GO:0044065)2.29902111
142intraciliary transport (GO:0042073)2.29546687
143negative regulation of axon extension (GO:0030517)2.29423728
144positive regulation of neuroblast proliferation (GO:0002052)2.29392254
145renal system development (GO:0072001)2.28533485
146cilium morphogenesis (GO:0060271)2.27492404
147lung epithelium development (GO:0060428)2.25362125
148axoneme assembly (GO:0035082)2.23796268
149ganglion development (GO:0061548)2.23641497
150semaphorin-plexin signaling pathway (GO:0071526)2.23208655
151negative regulation of synaptic transmission, GABAergic (GO:0032229)2.22753689
152auditory behavior (GO:0031223)2.22589205
153regulation of microtubule-based movement (GO:0060632)2.21493568
154convergent extension (GO:0060026)2.20290185
155smoothened signaling pathway (GO:0007224)2.17361761
156synapse assembly (GO:0007416)2.16338792
157regulation of glycogen (starch) synthase activity (GO:2000465)2.16174939
158calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.14987092
159neuron projection extension (GO:1990138)2.14325466
160transmission of nerve impulse (GO:0019226)2.10582840
161regulation of nuclear cell cycle DNA replication (GO:0033262)2.10555765
162protein localization to synapse (GO:0035418)2.10134076
163establishment of mitochondrion localization (GO:0051654)2.08980738
164pattern specification involved in kidney development (GO:0061004)2.08597674
165cornea development in camera-type eye (GO:0061303)2.07661554
166microtubule bundle formation (GO:0001578)2.07072993
167DNA methylation involved in gamete generation (GO:0043046)2.06219451
168neural tube development (GO:0021915)2.05431533
169cilium movement (GO:0003341)2.05406039
170cellular response to cholesterol (GO:0071397)2.05337386
171apical protein localization (GO:0045176)2.04670083
172regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.04668214
173alanine transport (GO:0032328)2.04475600
174establishment of apical/basal cell polarity (GO:0035089)2.04417930
175regulation of cilium movement (GO:0003352)2.03824807
176negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.03802728
177negative regulation of oligodendrocyte differentiation (GO:0048715)2.03049567
178axonemal dynein complex assembly (GO:0070286)2.02831649
179regulation of neurotransmitter uptake (GO:0051580)2.02541430
180myoblast fusion (GO:0007520)2.02033415
181neuronal stem cell maintenance (GO:0097150)2.00192431
182collecting duct development (GO:0072044)1.99060597
183somite development (GO:0061053)1.98900919
184kidney morphogenesis (GO:0060993)1.98742369
185planar cell polarity pathway involved in neural tube closure (GO:0090179)1.98279384
186mechanosensory behavior (GO:0007638)1.97423852
187dorsal/ventral neural tube patterning (GO:0021904)1.97401071
188neuron cell-cell adhesion (GO:0007158)1.96148891
189homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156)1.95858755
190vocalization behavior (GO:0071625)1.95118079
191positive regulation of gastrulation (GO:2000543)1.94819934
192lung-associated mesenchyme development (GO:0060484)1.94392938
193dendritic spine morphogenesis (GO:0060997)1.94233095
194head development (GO:0060322)1.94167993
195negative regulation of astrocyte differentiation (GO:0048712)1.94029653
196olfactory bulb development (GO:0021772)1.93095034
197cilium organization (GO:0044782)1.90182817
198metanephric nephron tubule development (GO:0072234)1.89476360
199metanephric tubule development (GO:0072170)1.89476360

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.57502118
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.51170775
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.17559756
4LXR_22158963_ChIP-Seq_LIVER_Mouse3.75094237
5PPARA_22158963_ChIP-Seq_LIVER_Mouse3.57645531
6GATA1_22025678_ChIP-Seq_K562_Human3.56771844
7STAT6_21828071_ChIP-Seq_BEAS2B_Human2.67719115
8DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.58141561
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.51863916
10CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.42398485
11FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.40823920
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.39562879
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.23631480
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.20919119
15EZH2_27294783_Chip-Seq_ESCs_Mouse2.13996741
16NFIB_24661679_ChIP-Seq_LUNG_Mouse2.05334106
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.01968113
18EZH2_18974828_ChIP-Seq_MESCs_Mouse1.98832383
19RNF2_18974828_ChIP-Seq_MESCs_Mouse1.98832383
20SUZ12_27294783_Chip-Seq_ESCs_Mouse1.97199283
21RNF2_27304074_Chip-Seq_ESCs_Mouse1.96469229
22ERG_21242973_ChIP-ChIP_JURKAT_Human1.95717700
23JARID2_20075857_ChIP-Seq_MESCs_Mouse1.94491495
24CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.92870447
25SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.89692140
26SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.82176489
27FOXA2_19822575_ChIP-Seq_HepG2_Human1.81451620
28CBX2_27304074_Chip-Seq_ESCs_Mouse1.79916749
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.78243214
30TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.72232752
31ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.69131728
32SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.66592604
33CLOCK_20551151_ChIP-Seq_293T_Human1.66407362
34ZNF274_21170338_ChIP-Seq_K562_Hela1.65295527
35PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.62841688
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59474105
37CTCF_27219007_Chip-Seq_Bcells_Human1.57346499
38ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.56695460
39ESR1_15608294_ChIP-ChIP_MCF-7_Human1.56483214
40EGR1_23403033_ChIP-Seq_LIVER_Mouse1.52096507
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.46482066
42RING1B_27294783_Chip-Seq_ESCs_Mouse1.44624595
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.43911457
44AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.42995727
45TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.39135912
46GBX2_23144817_ChIP-Seq_PC3_Human1.36412839
47EZH2_22144423_ChIP-Seq_EOC_Human1.34080977
48TP53_20018659_ChIP-ChIP_R1E_Mouse1.33581833
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31721835
50MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.31389835
51RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.30571666
52PKCTHETA_26484144_Chip-Seq_BREAST_Human1.29296187
53TP63_17297297_ChIP-ChIP_HaCaT_Human1.28334524
54SOX2_27498859_Chip-Seq_STOMACH_Mouse1.27468958
55GATA1_19941826_ChIP-Seq_K562_Human1.27158216
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25588811
57TRIM28_21343339_ChIP-Seq_HEK293_Human1.25041324
58SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.23661416
59TP53_22127205_ChIP-Seq_IMR90_Human1.23310411
60BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22158216
61ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.19209705
62* TP53_23651856_ChIP-Seq_MEFs_Mouse1.19111340
63SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18869335
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.18761004
65DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.16966712
66ESR2_21235772_ChIP-Seq_MCF-7_Human1.16501575
67* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.16198384
68MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16012030
69ERA_21632823_ChIP-Seq_H3396_Human1.15998735
70SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.15772682
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.15408585
72ESR1_21235772_ChIP-Seq_MCF-7_Human1.15200771
73RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15018666
74P68_20966046_ChIP-Seq_HELA_Human1.13471238
75TET1_21451524_ChIP-Seq_MESCs_Mouse1.13068887
76GATA1_26923725_Chip-Seq_HPCs_Mouse1.12809087
77GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.12434668
78TBX20_22080862_ChIP-Seq_HEART_Mouse1.11132390
79TBX20_22328084_ChIP-Seq_HEART_Mouse1.11132390
80KLF4_19829295_ChIP-Seq_ESCs_Human1.09812099
81GATA2_21666600_ChIP-Seq_HMVEC_Human1.09165952
82TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08994750
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.07531438
84P53_21459846_ChIP-Seq_SAOS-2_Human1.06855754
85REST_21632747_ChIP-Seq_MESCs_Mouse1.05058007
86MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.03569795
87RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03425914
88WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03419773
89CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.03064469
90VDR_22108803_ChIP-Seq_LS180_Human1.01857273
91PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.00793160
92RARB_27405468_Chip-Seq_BRAIN_Mouse0.98255369
93CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98166689
94BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97889841
95SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97090173
96GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97000540
97NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.96579750
98REST_18959480_ChIP-ChIP_MESCs_Mouse0.96489436
99RNF2_27304074_Chip-Seq_NSC_Mouse0.95221607
100CREB1_26743006_Chip-Seq_LNCaP_Human0.94401352
101EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.94361980
102KDM2B_26808549_Chip-Seq_K562_Human0.93987430
103NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.93073797
104GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.92871000
105HNF4A_19822575_ChIP-Seq_HepG2_Human0.92594534
106CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.92251496
107P300_27058665_Chip-Seq_ZR-75-30cells_Human0.92001963
108TP63_19390658_ChIP-ChIP_HaCaT_Human0.91605668
109ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91163120
110EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90865729
111ISL1_27105846_Chip-Seq_CPCs_Mouse0.89403104
112PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.88882461
113AR_19668381_ChIP-Seq_PC3_Human0.88869272
114SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88581007
115CTCF_20526341_ChIP-Seq_ESCs_Human0.87684104
116MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.87303865
117GATA2_19941826_ChIP-Seq_K562_Human0.87253470
118SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87079742
119ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.86924006
120CTBP1_25329375_ChIP-Seq_LNCAP_Human0.86169165
121DROSHA_22980978_ChIP-Seq_HELA_Human0.85549719
122TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85156662
123TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.85057027
124ZNF217_24962896_ChIP-Seq_MCF-7_Human0.84693142
125FOXP1_21924763_ChIP-Seq_HESCs_Human0.84560996
126CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.84546840
127TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84091941
128EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83937537
129SALL1_21062744_ChIP-ChIP_HESCs_Human0.83936884
130* TP63_22573176_ChIP-Seq_HFKS_Human0.83581858
131TET1_21490601_ChIP-Seq_MESCs_Mouse0.81929249
132EP300_21415370_ChIP-Seq_HL-1_Mouse0.81717983
133CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.81616360
134GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81325036
135RARA_24833708_ChIP-Seq_LIVER_Mouse0.80868974
136PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.80104784
137SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.79663276
138* FOXO3_23340844_ChIP-Seq_DLD1_Human0.79596114
139E2F1_20622854_ChIP-Seq_HELA_Human0.78705594
140HIF1A_21447827_ChIP-Seq_MCF-7_Human0.78587197
141RAC3_21632823_ChIP-Seq_H3396_Human0.78400007
142SOX2_21211035_ChIP-Seq_LN229_Gbm0.78233719
143WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.77701067
144SMAD3_21741376_ChIP-Seq_ESCs_Human0.77475522
145* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.77436077
146ZFP281_27345836_Chip-Seq_ESCs_Mouse0.77174454
147ZFP281_18757296_ChIP-ChIP_E14_Mouse0.77172008
148FOXA1_25552417_ChIP-Seq_VCAP_Human0.77120252
149PHF8_20622854_ChIP-Seq_HELA_Human0.77098383
150ESR1_20079471_ChIP-ChIP_T-47D_Human0.76837448
151THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.76684986
152UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.76589778
153LXR_22292898_ChIP-Seq_THP-1_Human0.76548699
154MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.76421699
155SMC4_20622854_ChIP-Seq_HELA_Human0.76194719
156SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76151589
157ERG_20517297_ChIP-Seq_VCAP_Human0.76072786
158CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75796770
159SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.75536870
160* E2F1_17053090_ChIP-ChIP_MCF-7_Human0.75516384
161PIAS1_25552417_ChIP-Seq_VCAP_Human0.75418064
162CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.75219500
163NANOG_21062744_ChIP-ChIP_HESCs_Human0.75166491
164PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.75048539
165MTF2_20144788_ChIP-Seq_MESCs_Mouse0.74973821
166KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.74718236
167TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.74693211
168AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.74620970
169SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74587484
170NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.74392095
171NRF2_20460467_ChIP-Seq_MEFs_Mouse0.74392095

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.03228809
2MP0009780_abnormal_chondrocyte_physiolo3.99262973
3MP0004084_abnormal_cardiac_muscle3.70444358
4MP0005360_urolithiasis3.43558581
5MP0005365_abnormal_bile_salt3.20325264
6MP0002877_abnormal_melanocyte_morpholog3.09669377
7MP0003195_calcinosis2.85211004
8MP0005410_abnormal_fertilization2.83871136
9MP0003283_abnormal_digestive_organ2.82860127
10MP0003183_abnormal_peptide_metabolism2.81547969
11MP0004036_abnormal_muscle_relaxation2.77636573
12MP0010030_abnormal_orbit_morphology2.51057437
13MP0004043_abnormal_pH_regulation2.40207699
14MP0005085_abnormal_gallbladder_physiolo2.38737645
15MP0004885_abnormal_endolymph2.30440188
16MP0000778_abnormal_nervous_system2.19885756
17MP0006072_abnormal_retinal_apoptosis2.19144324
18MP0003136_yellow_coat_color2.14478323
19MP0000462_abnormal_digestive_system2.08646344
20MP0003252_abnormal_bile_duct2.02525578
21MP0003122_maternal_imprinting1.98957572
22MP0010329_abnormal_lipoprotein_level1.92732996
23MP0008877_abnormal_DNA_methylation1.89813775
24MP0004133_heterotaxia1.88801012
25MP0000013_abnormal_adipose_tissue1.86953636
26MP0003705_abnormal_hypodermis_morpholog1.84906054
27MP0004264_abnormal_extraembryonic_tissu1.82871795
28MP0008875_abnormal_xenobiotic_pharmacok1.77886452
29MP0003806_abnormal_nucleotide_metabolis1.75430958
30MP0006292_abnormal_olfactory_placode1.75096251
31MP0001944_abnormal_pancreas_morphology1.71430119
32MP0005220_abnormal_exocrine_pancreas1.70926190
33MP0005257_abnormal_intraocular_pressure1.70307266
34MP0000566_synostosis1.65891604
35MP0000049_abnormal_middle_ear1.65741012
36MP0001968_abnormal_touch/_nociception1.64775724
37MP0005083_abnormal_biliary_tract1.61644704
38MP0005551_abnormal_eye_electrophysiolog1.59594322
39MP0009840_abnormal_foam_cell1.59399990
40MP0003011_delayed_dark_adaptation1.53863375
41MP0002837_dystrophic_cardiac_calcinosis1.53596512
42MP0004859_abnormal_synaptic_plasticity1.52373500
43MP0002909_abnormal_adrenal_gland1.50214818
44MP0005058_abnormal_lysosome_morphology1.49172481
45MP0005253_abnormal_eye_physiology1.48685535
46MP0001765_abnormal_ion_homeostasis1.46302982
47MP0002118_abnormal_lipid_homeostasis1.43854883
48MP0003942_abnormal_urinary_system1.42293448
49MP0004130_abnormal_muscle_cell1.41249302
50MP0000579_abnormal_nail_morphology1.40599844
51MP0000003_abnormal_adipose_tissue1.38463864
52MP0003632_abnormal_nervous_system1.38068129
53MP0003937_abnormal_limbs/digits/tail_de1.36996038
54MP0002249_abnormal_larynx_morphology1.36385079
55MP0000955_abnormal_spinal_cord1.36300569
56MP0002184_abnormal_innervation1.34682734
57MP0003880_abnormal_central_pattern1.31524053
58MP0003329_amyloid_beta_deposits1.31352301
59MP0002896_abnormal_bone_mineralization1.29683696
60MP0004858_abnormal_nervous_system1.29051509
61MP0002557_abnormal_social/conspecific_i1.28288171
62MP0005332_abnormal_amino_acid1.28133651
63MP0002078_abnormal_glucose_homeostasis1.27955590
64MP0004233_abnormal_muscle_weight1.27374218
65MP0003119_abnormal_digestive_system1.26919613
66MP0009672_abnormal_birth_weight1.26512268
67MP0002572_abnormal_emotion/affect_behav1.24435934
68MP0004270_analgesia1.24406003
69MP0003868_abnormal_feces_composition1.24377784
70MP0008438_abnormal_cutaneous_collagen1.23943828
71MP0002693_abnormal_pancreas_physiology1.22555270
72MP0001661_extended_life_span1.22028268
73MP0002272_abnormal_nervous_system1.21889937
74MP0008961_abnormal_basal_metabolism1.21606635
75MP0003635_abnormal_synaptic_transmissio1.21592197
76MP0001293_anophthalmia1.21348363
77MP0002736_abnormal_nociception_after1.20601461
78MP0002638_abnormal_pupillary_reflex1.20482475
79MP0002734_abnormal_mechanical_nocicepti1.20282726
80MP0002063_abnormal_learning/memory/cond1.20134179
81MP0003861_abnormal_nervous_system1.19493340
82MP0000383_abnormal_hair_follicle1.18685402
83MP0001984_abnormal_olfaction1.18008725
84MP0003123_paternal_imprinting1.17514138
85MP0003943_abnormal_hepatobiliary_system1.17412338
86MP0001666_abnormal_nutrient_absorption1.16561756
87MP0000631_abnormal_neuroendocrine_gland1.16217980
88MP0002116_abnormal_craniofacial_bone1.16181525
89MP0005394_taste/olfaction_phenotype1.13720367
90MP0005499_abnormal_olfactory_system1.13720367
91MP0008789_abnormal_olfactory_epithelium1.13295390
92MP0003045_fibrosis1.12554635
93MP0003634_abnormal_glial_cell1.11049257
94MP0005375_adipose_tissue_phenotype1.09184864
95MP0003755_abnormal_palate_morphology1.08626579
96MP0003646_muscle_fatigue1.08517513
97MP0004134_abnormal_chest_morphology1.08504414
98MP0009643_abnormal_urine_homeostasis1.08283103
99MP0005646_abnormal_pituitary_gland1.07847397
100MP0002882_abnormal_neuron_morphology1.07699455
101MP0000427_abnormal_hair_cycle1.07039278
102MP0009046_muscle_twitch1.05344433
103MP0009053_abnormal_anal_canal1.05132085
104MP0004019_abnormal_vitamin_homeostasis1.04257016
105MP0000026_abnormal_inner_ear1.04177599
106MP0002152_abnormal_brain_morphology1.04109207
107MP0002233_abnormal_nose_morphology1.04103652
108MP0009745_abnormal_behavioral_response1.03750744
109MP0004147_increased_porphyrin_level1.03261561
110MP0001270_distended_abdomen1.03141826
111MP0002752_abnormal_somatic_nervous1.00430230
112MP0003787_abnormal_imprinting0.99352098
113MP0002064_seizures0.98836287
114MP0002822_catalepsy0.98567213
115MP0006276_abnormal_autonomic_nervous0.98325373
116MP0003698_abnormal_male_reproductive0.97899987
117MP0002090_abnormal_vision0.97347071
118MP0000609_abnormal_liver_physiology0.96780531
119MP0001502_abnormal_circadian_rhythm0.95776424
120MP0003890_abnormal_embryonic-extraembry0.95712917
121MP0005666_abnormal_adipose_tissue0.95472764
122MP0003121_genomic_imprinting0.94931522
123MP0001486_abnormal_startle_reflex0.94879443
124MP0002697_abnormal_eye_size0.94769905
125MP0001529_abnormal_vocalization0.94578610
126MP0002751_abnormal_autonomic_nervous0.93628516
127MP0000678_abnormal_parathyroid_gland0.92944782
128MP0005645_abnormal_hypothalamus_physiol0.92806951
129MP0001970_abnormal_pain_threshold0.92275069
130MP0005187_abnormal_penis_morphology0.92051536
131MP0000920_abnormal_myelination0.91541516
132MP0003938_abnormal_ear_development0.91336869
133MP0005423_abnormal_somatic_nervous0.89718458
134MP0001485_abnormal_pinna_reflex0.88851103
135MP0002229_neurodegeneration0.88717770
136MP0003385_abnormal_body_wall0.88660462
137MP0005670_abnormal_white_adipose0.87888335
138MP0008775_abnormal_heart_ventricle0.87256535
139MP0002932_abnormal_joint_morphology0.86384779
140MP0004272_abnormal_basement_membrane0.86192866
141MP0003878_abnormal_ear_physiology0.85371080
142MP0005377_hearing/vestibular/ear_phenot0.85371080
143MP0001299_abnormal_eye_distance/0.85268726
144MP0000762_abnormal_tongue_morphology0.85128588
145MP0002733_abnormal_thermal_nociception0.84876870
146MP0000647_abnormal_sebaceous_gland0.84296023
147MP0002254_reproductive_system_inflammat0.83658100
148MP0005391_vision/eye_phenotype0.83631041
149MP0002160_abnormal_reproductive_system0.83449105
150MP0005171_absent_coat_pigmentation0.83444673
151MP0001348_abnormal_lacrimal_gland0.82438215
152MP0009250_abnormal_appendicular_skeleto0.82435694
153MP0002938_white_spotting0.82029870
154MP0003935_abnormal_craniofacial_develop0.81199977
155MP0002653_abnormal_ependyma_morphology0.79777640
156MP0000467_abnormal_esophagus_morphology0.79417943
157MP0002234_abnormal_pharynx_morphology0.78286472
158MP0002168_other_aberrant_phenotype0.78250786
159MP0009703_decreased_birth_body0.78152552
160MP0002269_muscular_atrophy0.75265795
161MP0001929_abnormal_gametogenesis0.74115839
162MP0000598_abnormal_liver_morphology0.72503647
163MP0004145_abnormal_muscle_electrophysio0.71942190
164MP0003300_gastrointestinal_ulcer0.70613770
165MP0005379_endocrine/exocrine_gland_phen0.70595977
166MP0009384_cardiac_valve_regurgitation0.70034306
167MP0005195_abnormal_posterior_eye0.68784225
168MP0003953_abnormal_hormone_level0.66914146
169MP0003631_nervous_system_phenotype0.66167427
170MP0010630_abnormal_cardiac_muscle0.66090476
171MP0003950_abnormal_plasma_membrane0.65660383
172MP0002161_abnormal_fertility/fecundity0.63135101
173MP0003172_abnormal_lysosome_physiology0.60889552
174MP0000604_amyloidosis0.60125674
175MP0000428_abnormal_craniofacial_morphol0.56742537
176MP0000534_abnormal_ureter_morphology0.56337626
177MP0004087_abnormal_muscle_fiber0.55851255
178MP0002972_abnormal_cardiac_muscle0.55317284

Predicted human phenotypes

RankGene SetZ-score
1Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)5.33100377
2Hyperinsulinemic hypoglycemia (HP:0000825)4.63871540
3Hypoglycemic coma (HP:0001325)4.55549325
4Abnormality of aromatic amino acid family metabolism (HP:0004338)4.30870795
5Increased neuronal autofluorescent lipopigment (HP:0002074)4.27766081
6Increased cerebral lipofuscin (HP:0011813)4.06306115
7Hypoglycemic seizures (HP:0002173)3.84743273
8Ependymoma (HP:0002888)3.75216507
9Hyperglycemia (HP:0003074)3.65801979
10Prostate neoplasm (HP:0100787)3.39234975
11Insulin-resistant diabetes mellitus (HP:0000831)3.38009740
12Retinal atrophy (HP:0001105)3.37837318
13Deep venous thrombosis (HP:0002625)3.33461936
14Pancreatic islet-cell hyperplasia (HP:0004510)3.26251671
15Abnormality of the pancreatic islet cells (HP:0006476)3.16163058
16Abnormality of endocrine pancreas physiology (HP:0012093)3.16163058
17Ketosis (HP:0001946)3.13923068
18Ketoacidosis (HP:0001993)3.09724259
19Intrahepatic cholestasis (HP:0001406)3.04974491
20Xanthomatosis (HP:0000991)3.01237581
21Pancreatic fibrosis (HP:0100732)2.94134923
22Late onset (HP:0003584)2.89376473
23Astrocytoma (HP:0009592)2.87501685
24Abnormality of the astrocytes (HP:0100707)2.87501685
25Medulloblastoma (HP:0002885)2.84595137
26Nephronophthisis (HP:0000090)2.83439123
27Molar tooth sign on MRI (HP:0002419)2.82855119
28Abnormality of midbrain morphology (HP:0002418)2.82855119
29Symptomatic seizures (HP:0011145)2.78828423
30Cystic liver disease (HP:0006706)2.78372285
31Protuberant abdomen (HP:0001538)2.72959785
32Pancreatic cysts (HP:0001737)2.72179044
33Abolished electroretinogram (ERG) (HP:0000550)2.68526821
34Abnormality of the aortic arch (HP:0012303)2.67945408
35Hypoplastic ischia (HP:0003175)2.67338378
36Insulin resistance (HP:0000855)2.65066053
37Tubular atrophy (HP:0000092)2.49956576
38Abnormality of the ischium (HP:0003174)2.49867478
39Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.47428074
40Intention tremor (HP:0002080)2.44256378
41Double outlet right ventricle (HP:0001719)2.41906435
42Congenital malformation of the right heart (HP:0011723)2.41906435
43Vacuolated lymphocytes (HP:0001922)2.40593088
44Large for gestational age (HP:0001520)2.39910691
45Gastrointestinal stroma tumor (HP:0100723)2.37867200
46* Type II lissencephaly (HP:0007260)2.37452600
47Abnormality of monocarboxylic acid metabolism (HP:0010996)2.36669274
48True hermaphroditism (HP:0010459)2.34705833
49Neoplasm of the peripheral nervous system (HP:0100007)2.34617016
50Hyperlipoproteinemia (HP:0010980)2.32339688
51Abnormal foot bone ossification (HP:0010675)2.31563109
52Medial flaring of the eyebrow (HP:0010747)2.27804415
53Hypobetalipoproteinemia (HP:0003563)2.27628262
54Abnormality of the intrinsic pathway (HP:0010989)2.26054502
55Retinal dysplasia (HP:0007973)2.24872248
56Abnormality of the renal medulla (HP:0100957)2.24732181
57Occipital encephalocele (HP:0002085)2.23327737
58Glioma (HP:0009733)2.21061192
59Sclerocornea (HP:0000647)2.20029174
60Abnormal drinking behavior (HP:0030082)2.19669446
61Polydipsia (HP:0001959)2.19669446
62Skin nodule (HP:0200036)2.19366945
63Chronic bronchitis (HP:0004469)2.18882627
64Neoplasm of the rectum (HP:0100743)2.12704913
65Conjugated hyperbilirubinemia (HP:0002908)2.11717679
66Rhabdomyosarcoma (HP:0002859)2.07174650
67Gout (HP:0001997)2.07079515
68Hyperventilation (HP:0002883)2.06616997
69Hypoalphalipoproteinemia (HP:0003233)2.05896613
70Gait imbalance (HP:0002141)2.04561691
71Agnosia (HP:0010524)2.04285305
72Hypolipoproteinemia (HP:0010981)2.03467876
73Stridor (HP:0010307)2.03396655
74Neurofibrillary tangles (HP:0002185)2.03093353
75Polygenic inheritance (HP:0010982)2.02830792
76Bony spicule pigmentary retinopathy (HP:0007737)1.99577191
77Glucose intolerance (HP:0000833)1.98857815
78Abnormality of the common coagulation pathway (HP:0010990)1.96784765
79Cerebral inclusion bodies (HP:0100314)1.95817497
80Broad distal phalanx of finger (HP:0009836)1.94590386
81Biliary tract neoplasm (HP:0100574)1.93436837
82Rib fusion (HP:0000902)1.92480163
83Absent epiphyses (HP:0010577)1.92419587
84Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.92419587
85Congenital primary aphakia (HP:0007707)1.90519403
86Macroorchidism (HP:0000053)1.90513878
87Anophthalmia (HP:0000528)1.89125727
88Ectopic kidney (HP:0000086)1.86394229
89Abnormality of dentin (HP:0010299)1.85009117
90Hypoplasia of the capital femoral epiphysis (HP:0003090)1.84963485
91Neoplasm of the small intestine (HP:0100833)1.84746362
92Partial agenesis of the corpus callosum (HP:0001338)1.84645081
93Neoplasm of the liver (HP:0002896)1.82157969
94Prolonged partial thromboplastin time (HP:0003645)1.81950941
95Progressive visual loss (HP:0000529)1.81504697
96Vitreoretinal degeneration (HP:0000655)1.81407041
97Spastic tetraparesis (HP:0001285)1.80947695
98* Lissencephaly (HP:0001339)1.80787423
99Generalized aminoaciduria (HP:0002909)1.80650911
100Agitation (HP:0000713)1.80634164
101Abdominal distention (HP:0003270)1.80547058
102Anencephaly (HP:0002323)1.79858383
103Epidermoid cyst (HP:0200040)1.77754288
104* Pachygyria (HP:0001302)1.77380839
105Neoplasm of striated muscle (HP:0009728)1.76971273
106Central scotoma (HP:0000603)1.76757956
107Morphological abnormality of the middle ear (HP:0008609)1.75750571
108Hyperacusis (HP:0010780)1.75625646
109Short nail (HP:0001799)1.75052554
110Renal dysplasia (HP:0000110)1.74815727
111Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.73916003
112Postaxial foot polydactyly (HP:0001830)1.72412095
113Hyperglycinemia (HP:0002154)1.72141258
114Nephrogenic diabetes insipidus (HP:0009806)1.72091330
115Vaginal atresia (HP:0000148)1.71087138
116Complement deficiency (HP:0004431)1.70881038
117Renovascular hypertension (HP:0100817)1.70478270
118Type II diabetes mellitus (HP:0005978)1.70243884
119Aplasia/Hypoplasia of the spleen (HP:0010451)1.69597888
120Bilateral microphthalmos (HP:0007633)1.69545276
121Abnormal rod and cone electroretinograms (HP:0008323)1.69201026
122Preaxial hand polydactyly (HP:0001177)1.67905024
123Genital tract atresia (HP:0001827)1.67183022
124Premature skin wrinkling (HP:0100678)1.66911347
125Turricephaly (HP:0000262)1.65965851
126Enlarged kidneys (HP:0000105)1.65787253
127* Buphthalmos (HP:0000557)1.64622629
128Increased corneal curvature (HP:0100692)1.64530015
129Keratoconus (HP:0000563)1.64530015
130Abnormality of sulfur amino acid metabolism (HP:0004339)1.64334945
131Protruding tongue (HP:0010808)1.64213079
132Abnormal biliary tract morphology (HP:0012440)1.64175625
133Fibular hypoplasia (HP:0003038)1.63823384
134Polyuria (HP:0000103)1.63677096
135Metaphyseal cupping (HP:0003021)1.62640509
136J-shaped sella turcica (HP:0002680)1.62287356
137Postaxial hand polydactyly (HP:0001162)1.61964065
138Neuroendocrine neoplasm (HP:0100634)1.61732853
139* Congenital glaucoma (HP:0001087)1.61277737
140Chronic hepatic failure (HP:0100626)1.60072193
141Upper limb amyotrophy (HP:0009129)1.59304326
142Distal upper limb amyotrophy (HP:0007149)1.59304326
143Hypsarrhythmia (HP:0002521)1.58250619
144Poor coordination (HP:0002370)1.58131164
145Aplasia/Hypoplasia of the tongue (HP:0010295)1.57049671
146Myoglobinuria (HP:0002913)1.56960140
147Resting tremor (HP:0002322)1.56434838
148Failure to thrive in infancy (HP:0001531)1.55375863
149EEG with generalized epileptiform discharges (HP:0011198)1.55113114
150Macular degeneration (HP:0000608)1.54317550
151High anterior hairline (HP:0009890)1.54096894
152Hyperammonemia (HP:0001987)1.53997715
153Limb hypertonia (HP:0002509)1.53858820
154* Polymicrogyria (HP:0002126)1.53493421
155Abnormal gallbladder physiology (HP:0012438)1.53201373
156Cholecystitis (HP:0001082)1.53201373
157Hand muscle atrophy (HP:0009130)1.53161300
158Congenital hepatic fibrosis (HP:0002612)1.52842294
159Pendular nystagmus (HP:0012043)1.52768452
160* Severe muscular hypotonia (HP:0006829)1.52405858
161Hypoplasia of the iris (HP:0007676)1.52179384
162Bulbous nose (HP:0000414)1.51676519
163Amblyopia (HP:0000646)1.49302956
164Concave nail (HP:0001598)1.49023671
165Narrow forehead (HP:0000341)1.47317244
166Drooling (HP:0002307)1.46229933
167Asplenia (HP:0001746)1.46163972
168Aganglionic megacolon (HP:0002251)1.45563324
169Aplasia/Hypoplasia of the fibula (HP:0006492)1.44873975
170Hypoventilation (HP:0002791)1.44708269
171Abnormal number of incisors (HP:0011064)1.44650814
172Shawl scrotum (HP:0000049)1.44189677
173* Dandy-Walker malformation (HP:0001305)1.43701805
174Patellar aplasia (HP:0006443)1.43470796
175Fragile nails (HP:0001808)1.41576172
176Abnormality of the renal cortex (HP:0011035)1.41108827
177Flattened epiphyses (HP:0003071)1.40972416
178Cutaneous finger syndactyly (HP:0010554)1.40821277
179Abnormality of the diencephalon (HP:0010662)1.40613413
180* Hypoplasia of the brainstem (HP:0002365)1.40133709
181* Aplasia/Hypoplasia of the brainstem (HP:0007362)1.40133709
182Congenital stationary night blindness (HP:0007642)1.39462370
183Aplasia/Hypoplasia of the patella (HP:0006498)1.38965051
184Optic nerve hypoplasia (HP:0000609)1.38734325
185Flat capital femoral epiphysis (HP:0003370)1.38619650
186Abnormality of the femoral head (HP:0003368)1.38063301
187Elfin facies (HP:0004428)1.37007449
188Tracheal stenosis (HP:0002777)1.36469094
189Bifid tongue (HP:0010297)1.35840843
190Hemiparesis (HP:0001269)1.34749634
191Abnormality of the epiphysis of the femoral head (HP:0010574)1.34444203
192Multicystic kidney dysplasia (HP:0000003)1.33853134
193Abnormality involving the epiphyses of the lower limbs (HP:0006500)1.33248920
194Abnormality of femoral epiphyses (HP:0006499)1.33248920
195Abnormality of abdominal situs (HP:0011620)1.33164542

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K103.86556470
2FLT33.83598202
3PRKD32.87475387
4MARK12.58234692
5CASK2.54288247
6TRIB32.32506780
7INSRR2.17953572
8PIK3CG10.7985239
9PASK1.99486053
10PDK31.88754584
11PDK41.88754584
12KIT1.87556620
13PIK3CA1.85350195
14WNK41.82201931
15PINK11.79500185
16SIK21.78600279
17ICK1.78006179
18SIK11.71574322
19DYRK21.67099630
20MAPK151.67011567
21ADRBK21.63823275
22EPHB21.58166955
23NTRK21.51642766
24BCKDK1.44868956
25WNK31.40970633
26RET1.38561090
27PDGFRA1.36086772
28TNIK1.30772433
29ERN11.29312629
30TLK11.29296010
31OXSR11.27808985
32FRK1.25934408
33GRK11.24858486
34NEK21.24669646
35MAP3K21.21857879
36ZAK1.21510288
37NME11.21062557
38EPHA21.20469477
39PRKCH1.19660212
40MAP3K41.10786103
41BMPR1B1.07823392
42DAPK21.07643973
43NTRK11.07367911
44PTK21.06676792
45MET1.02703336
46STK391.02605577
47PDGFRB1.01662326
48TIE11.00319883
49PRKD21.00067749
50CSNK1G20.98493549
51RPS6KA20.94771238
52CSNK1G30.94521556
53TAOK30.94354956
54LIMK10.93245234
55PRKCG0.91923768
56FGFR20.90767827
57PKN20.90338300
58UHMK10.90149925
59PTK60.89838274
60MKNK20.89767547
61MAP2K70.86720735
62EPHB10.85246916
63WNK10.82114151
64CAMK10.81895140
65MAPKAPK30.81299814
66CSF1R0.80060222
67CSNK1G10.77254291
68DYRK1B0.77107954
69PRKCI0.76852066
70CSNK1A1L0.76843944
71EPHA40.74528857
72MATK0.73937265
73DDR20.73860177
74LATS10.72638030
75MAPKAPK50.72463534
76BRSK10.72442478
77PRKD10.70826800
78HIPK20.69595796
79CHEK20.69392526
80EPHA30.69247794
81CAMK1G0.67231987
82LATS20.66943006
83PDK20.66521236
84MTOR0.66102721
85PTK2B0.65873751
86RIPK10.64592413
87RPS6KA60.64166403
88TESK10.63529226
89SMG10.63106932
90CDK80.63076051
91PRKCZ0.61856752
92MAP2K30.60526840
93MAP2K40.60312719
94PAK30.59285713
95FGFR40.57808918
96SGK4940.56777710
97SGK2230.56777710
98MAPK130.55948125
99ADRBK10.54911204
100CDK120.53816382
101ROCK10.53373462
102STK110.52770546
103MAP4K20.51940912
104MAP3K70.51774530
105RPS6KL10.50494720
106RPS6KC10.50494720
107AURKA0.50398221
108CAMK40.49526630
109PRKCE0.49432866
110MAP3K140.48642170
111STK38L0.47152678
112PRKG20.46897654
113PLK20.45918422
114MAP2K10.45773359
115MAPK70.45100727
116VRK20.44033481
117AKT30.43837793
118LMTK20.43512318
119RPS6KB20.43018097
120CDK50.42180240
121PAK60.40817508
122CLK10.39450441
123CAMK2G0.38869234
124PRKAA10.38830451
125PRKG10.38778628
126TYRO30.38539397
127MAP3K60.38461515
128CAMK2A0.38300156
129TTN0.37962925
130PRPF4B0.35997466
131PAK20.35039023
132CDC42BPA0.34688373
133SGK30.34504984
134STK380.34209216
135SCYL20.34035618
136BRD40.33781385
137MUSK0.33733150
138CAMK1D0.33145747
139PNCK0.32962147
140PDPK10.32399287
141EEF2K0.30972704
142GSK3A0.30818515
143PHKG10.30401617
144PHKG20.30401617
145IGF1R0.30120056
146PDK10.30009359
147MAP2K20.28882775
148NTRK30.27367774
149ERBB40.26460418
150CAMK2D0.24314797
151CSNK1E0.22584885
152ERBB20.21378513
153SGK20.20137390
154CCNB10.19750489
155PRKACG0.19666658
156INSR0.18236512
157CAMK2B0.18057195
158PRKDC0.18011227
159RPS6KA30.17974764
160CAMKK10.17391450
161PRKCB0.17249670
162ALK0.16356967

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.06090241
2Nitrogen metabolism_Homo sapiens_hsa009103.20141382
3Sulfur metabolism_Homo sapiens_hsa009202.92368997
4Carbohydrate digestion and absorption_Homo sapiens_hsa049732.50608222
5Selenocompound metabolism_Homo sapiens_hsa004502.49426289
6Sulfur relay system_Homo sapiens_hsa041222.33602511
7Type II diabetes mellitus_Homo sapiens_hsa049302.16066068
8Basal cell carcinoma_Homo sapiens_hsa052172.04579954
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.01238303
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.99939720
11Primary bile acid biosynthesis_Homo sapiens_hsa001201.99006911
12Nicotine addiction_Homo sapiens_hsa050331.87804792
13Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.83979824
14Hedgehog signaling pathway_Homo sapiens_hsa043401.83845507
15Fatty acid degradation_Homo sapiens_hsa000711.83638577
16Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.73854500
17Axon guidance_Homo sapiens_hsa043601.70779050
18Fatty acid metabolism_Homo sapiens_hsa012121.69304185
19PPAR signaling pathway_Homo sapiens_hsa033201.65919764
20Hippo signaling pathway_Homo sapiens_hsa043901.65338698
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.64617136
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.63309370
23Butanoate metabolism_Homo sapiens_hsa006501.62355261
24Central carbon metabolism in cancer_Homo sapiens_hsa052301.62068299
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.58672079
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.58087070
27Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.56658544
28Propanoate metabolism_Homo sapiens_hsa006401.54679166
29Tryptophan metabolism_Homo sapiens_hsa003801.53441673
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.50668406
31Arginine biosynthesis_Homo sapiens_hsa002201.48379700
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.44802613
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.40135618
34Notch signaling pathway_Homo sapiens_hsa043301.36452662
35Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.32591705
36Insulin resistance_Homo sapiens_hsa049311.32419319
37Insulin secretion_Homo sapiens_hsa049111.32325829
38RNA polymerase_Homo sapiens_hsa030201.32004442
39Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.31868990
40ECM-receptor interaction_Homo sapiens_hsa045121.31456643
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28224701
42Fanconi anemia pathway_Homo sapiens_hsa034601.27814549
43Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.27510626
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.26913501
45alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.22828574
46Glutamatergic synapse_Homo sapiens_hsa047241.21050125
47Morphine addiction_Homo sapiens_hsa050321.20930498
48Bile secretion_Homo sapiens_hsa049761.18917747
49Circadian entrainment_Homo sapiens_hsa047131.16936270
50Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.16770792
51Glucagon signaling pathway_Homo sapiens_hsa049221.16417222
52Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.14993184
53Glycosaminoglycan degradation_Homo sapiens_hsa005311.13086674
54Complement and coagulation cascades_Homo sapiens_hsa046101.11339602
55Pyruvate metabolism_Homo sapiens_hsa006201.11123489
56Ovarian steroidogenesis_Homo sapiens_hsa049131.10290988
57Synaptic vesicle cycle_Homo sapiens_hsa047211.07948592
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.07556353
59Fatty acid elongation_Homo sapiens_hsa000621.06260345
60GABAergic synapse_Homo sapiens_hsa047271.06177910
61Cysteine and methionine metabolism_Homo sapiens_hsa002701.05596802
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.03906655
63mTOR signaling pathway_Homo sapiens_hsa041501.02106845
64Protein export_Homo sapiens_hsa030600.99839551
65Linoleic acid metabolism_Homo sapiens_hsa005910.99351446
66ABC transporters_Homo sapiens_hsa020100.97934455
67Cardiac muscle contraction_Homo sapiens_hsa042600.96681436
68Ether lipid metabolism_Homo sapiens_hsa005650.95917222
69Histidine metabolism_Homo sapiens_hsa003400.95569278
70Melanogenesis_Homo sapiens_hsa049160.95120739
71Cyanoamino acid metabolism_Homo sapiens_hsa004600.95022073
72AMPK signaling pathway_Homo sapiens_hsa041520.94453165
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.94010900
74Taste transduction_Homo sapiens_hsa047420.93879743
75Dopaminergic synapse_Homo sapiens_hsa047280.93490769
76Glioma_Homo sapiens_hsa052140.91917360
77Estrogen signaling pathway_Homo sapiens_hsa049150.91620043
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.91605462
79Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.90924900
80Dilated cardiomyopathy_Homo sapiens_hsa054140.89976392
81Phenylalanine metabolism_Homo sapiens_hsa003600.89584670
822-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.88729618
83* Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.88311335
84Inositol phosphate metabolism_Homo sapiens_hsa005620.88161057
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.88008375
86Salivary secretion_Homo sapiens_hsa049700.87893159
87Lysine degradation_Homo sapiens_hsa003100.87769984
88Endometrial cancer_Homo sapiens_hsa052130.84394889
89Steroid biosynthesis_Homo sapiens_hsa001000.84272582
90Folate biosynthesis_Homo sapiens_hsa007900.83364782
91Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83185708
92Basal transcription factors_Homo sapiens_hsa030220.81735057
93Fat digestion and absorption_Homo sapiens_hsa049750.80639699
94Peroxisome_Homo sapiens_hsa041460.80194792
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.79681979
96Non-small cell lung cancer_Homo sapiens_hsa052230.79593636
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79289348
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.77714664
99Sphingolipid metabolism_Homo sapiens_hsa006000.77170707
100Tight junction_Homo sapiens_hsa045300.76134301
101Acute myeloid leukemia_Homo sapiens_hsa052210.75436054
102Renal cell carcinoma_Homo sapiens_hsa052110.75190905
103Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.75045831
104Biosynthesis of amino acids_Homo sapiens_hsa012300.74885466
105N-Glycan biosynthesis_Homo sapiens_hsa005100.73261432
106Wnt signaling pathway_Homo sapiens_hsa043100.73046426
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.71622767
108Glycerolipid metabolism_Homo sapiens_hsa005610.70570770
109beta-Alanine metabolism_Homo sapiens_hsa004100.70269324
110Carbon metabolism_Homo sapiens_hsa012000.69947011
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.68099471
112Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66798268
113Cocaine addiction_Homo sapiens_hsa050300.66772896
114Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.66554036
115Fatty acid biosynthesis_Homo sapiens_hsa000610.65208596
116Pentose and glucuronate interconversions_Homo sapiens_hsa000400.64833915
117Tyrosine metabolism_Homo sapiens_hsa003500.63795707
118VEGF signaling pathway_Homo sapiens_hsa043700.63770142
119Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.62744771
120Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.62669891
121Long-term depression_Homo sapiens_hsa047300.62359892
122Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.62009419
123One carbon pool by folate_Homo sapiens_hsa006700.60635476
124Olfactory transduction_Homo sapiens_hsa047400.58653142
125Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.58313554
126Prolactin signaling pathway_Homo sapiens_hsa049170.58244556
127Insulin signaling pathway_Homo sapiens_hsa049100.57425613
128Cholinergic synapse_Homo sapiens_hsa047250.56508727
129cAMP signaling pathway_Homo sapiens_hsa040240.56311899
130Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56206987
131Serotonergic synapse_Homo sapiens_hsa047260.56098302
132Starch and sucrose metabolism_Homo sapiens_hsa005000.55683446
133Pyrimidine metabolism_Homo sapiens_hsa002400.54894454
134Huntingtons disease_Homo sapiens_hsa050160.54762363
135Arginine and proline metabolism_Homo sapiens_hsa003300.54539872
136Phototransduction_Homo sapiens_hsa047440.54486749
137Metabolic pathways_Homo sapiens_hsa011000.53466138
138Drug metabolism - other enzymes_Homo sapiens_hsa009830.52524864
139Oxidative phosphorylation_Homo sapiens_hsa001900.51500086
140Homologous recombination_Homo sapiens_hsa034400.51460312
141Lysosome_Homo sapiens_hsa041420.50419386
142Prostate cancer_Homo sapiens_hsa052150.49164860
143Vibrio cholerae infection_Homo sapiens_hsa051100.47902276
144Protein digestion and absorption_Homo sapiens_hsa049740.47652564
145Vitamin B6 metabolism_Homo sapiens_hsa007500.46765630
146Calcium signaling pathway_Homo sapiens_hsa040200.46351596
147Thyroid hormone synthesis_Homo sapiens_hsa049180.45311022
148cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45067960
149Caffeine metabolism_Homo sapiens_hsa002320.44087474
150Amphetamine addiction_Homo sapiens_hsa050310.42359124
151Oxytocin signaling pathway_Homo sapiens_hsa049210.42308245
152Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.39279130
153Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.36781272
154Chronic myeloid leukemia_Homo sapiens_hsa052200.35916639
155Dorso-ventral axis formation_Homo sapiens_hsa043200.35878906
156Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35604915
157Adipocytokine signaling pathway_Homo sapiens_hsa049200.35333409
158Amoebiasis_Homo sapiens_hsa051460.34901282
159ErbB signaling pathway_Homo sapiens_hsa040120.33008084
160Melanoma_Homo sapiens_hsa052180.32325551

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