CEP104

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





Description: This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1auditory receptor cell differentiation (GO:0042491)5.53949983
2nephron tubule morphogenesis (GO:0072078)5.38817065
3nephron epithelium morphogenesis (GO:0072088)5.38817065
4rRNA catabolic process (GO:0016075)4.78630783
5behavioral response to nicotine (GO:0035095)4.76350377
6plasma membrane repair (GO:0001778)4.32217628
7epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.21809712
8negative regulation of mesenchymal cell apoptotic process (GO:2001054)4.12945034
9negative regulation of potassium ion transmembrane transport (GO:1901380)4.12908600
10cellular ketone body metabolic process (GO:0046950)3.98469694
11negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.98028031
12positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.92939539
13sarcomere organization (GO:0045214)3.87483592
14neuron fate determination (GO:0048664)3.85843762
15renal tubule morphogenesis (GO:0061333)3.84763732
16interkinetic nuclear migration (GO:0022027)3.78172349
17cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.75735444
18L-fucose catabolic process (GO:0042355)3.64307670
19fucose catabolic process (GO:0019317)3.64307670
20L-fucose metabolic process (GO:0042354)3.64307670
21neuronal stem cell maintenance (GO:0097150)3.53801422
22negative regulation of cAMP-mediated signaling (GO:0043951)3.53216752
23cardiac myofibril assembly (GO:0055003)3.48083184
24ketone body metabolic process (GO:1902224)3.47877251
25multicellular organism reproduction (GO:0032504)3.46815104
26cell communication by electrical coupling (GO:0010644)3.46123946
27positive regulation of CREB transcription factor activity (GO:0032793)3.45541306
28regulation of hippo signaling (GO:0035330)3.42467474
29central nervous system myelination (GO:0022010)3.41822941
30axon ensheathment in central nervous system (GO:0032291)3.41822941
31regulation of mesenchymal cell apoptotic process (GO:2001053)3.39593560
32regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.34869855
33pattern specification involved in kidney development (GO:0061004)3.29341147
34protein K11-linked deubiquitination (GO:0035871)3.28137240
35potassium ion import (GO:0010107)3.26947438
36negative regulation of organelle assembly (GO:1902116)3.25851872
37hair cell differentiation (GO:0035315)3.25258331
38sarcoplasmic reticulum calcium ion transport (GO:0070296)3.23832260
39epithelial cilium movement (GO:0003351)3.23454448
40iron ion import (GO:0097286)3.23351423
41axoneme assembly (GO:0035082)3.22546117
42positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.22488941
43positive regulation of fatty acid oxidation (GO:0046321)3.21481896
44glycerophospholipid catabolic process (GO:0046475)3.19518250
45phosphorelay signal transduction system (GO:0000160)3.19123408
46protein localization to microtubule cytoskeleton (GO:0072698)3.16168862
47negative regulation of inclusion body assembly (GO:0090084)3.13941011
48positive regulation of sodium ion transmembrane transport (GO:1902307)3.13355559
49sodium ion export (GO:0071436)3.12935828
50cilium movement (GO:0003341)3.12176713
51synaptic vesicle maturation (GO:0016188)3.10520198
52myofibril assembly (GO:0030239)3.07525560
53regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.04488328
54cardiac muscle contraction (GO:0060048)3.00652969
55positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.96647161
56detection of calcium ion (GO:0005513)2.95907707
57protein localization to cytoskeleton (GO:0044380)2.93551508
58positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.93393668
59cilium or flagellum-dependent cell motility (GO:0001539)2.91385184
60positive regulation of fatty acid beta-oxidation (GO:0032000)2.91099743
61acrosome reaction (GO:0007340)2.90617257
62endocrine pancreas development (GO:0031018)2.90360111
63fucosylation (GO:0036065)2.90291030
64kynurenine metabolic process (GO:0070189)2.88223025
65cell communication involved in cardiac conduction (GO:0086065)2.87095782
66macroautophagy (GO:0016236)2.86682987
67phosphatidylinositol acyl-chain remodeling (GO:0036149)2.85682111
68phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.85329854
69sperm motility (GO:0030317)2.84427909
70protein targeting to Golgi (GO:0000042)2.84029640
71inner ear receptor cell differentiation (GO:0060113)2.82929366
72tricarboxylic acid cycle (GO:0006099)2.82808992
73negative regulation of reactive oxygen species metabolic process (GO:2000378)2.82640842
74vesicle transport along microtubule (GO:0047496)2.81934525
75regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.81744375
76nephron tubule formation (GO:0072079)2.80208212
77rhodopsin mediated signaling pathway (GO:0016056)2.79514729
78regulation of membrane repolarization (GO:0060306)2.79309929
79creatine metabolic process (GO:0006600)2.78855010
80regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.78435489
81protein import into peroxisome matrix (GO:0016558)2.78216432
82neuron maturation (GO:0042551)2.78204548
83negative regulation of cytosolic calcium ion concentration (GO:0051481)2.77269446
84membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.76935633
85protein polyglutamylation (GO:0018095)2.75965801
86cytoskeletal anchoring at plasma membrane (GO:0007016)2.75952465
87cilium organization (GO:0044782)2.75483623
88neuron remodeling (GO:0016322)2.75186650
89regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.74402409
90retinal cone cell development (GO:0046549)2.74252739
91phosphatidylserine acyl-chain remodeling (GO:0036150)2.73072169
92nucleus localization (GO:0051647)2.71330803
93snRNA transcription (GO:0009301)2.70613710
94detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.70476452
95actin-myosin filament sliding (GO:0033275)2.69711482
96muscle filament sliding (GO:0030049)2.69711482
97calcium ion import (GO:0070509)2.68448268
98negative regulation of cell size (GO:0045792)2.68442218
99forebrain neuron differentiation (GO:0021879)2.67806000
100COPI coating of Golgi vesicle (GO:0048205)2.66178942
101Golgi transport vesicle coating (GO:0048200)2.66178942
102ncRNA catabolic process (GO:0034661)2.63622886
103cilium assembly (GO:0042384)2.63364451
104diterpenoid biosynthetic process (GO:0016102)2.63195774
105negative regulation of telomere maintenance (GO:0032205)2.63034575
106membrane repolarization during action potential (GO:0086011)2.62572734
107positive regulation by host of viral transcription (GO:0043923)2.62352567
108actomyosin structure organization (GO:0031032)2.61129838
109myoblast fusion (GO:0007520)2.60718072
110nonmotile primary cilium assembly (GO:0035058)2.60298563
111regulation of nuclear cell cycle DNA replication (GO:0033262)2.59975326
112microtubule severing (GO:0051013)2.59441052
113cellular potassium ion homeostasis (GO:0030007)2.58961903
114negative regulation of potassium ion transport (GO:0043267)2.58528838
115cardiac muscle cell development (GO:0055013)2.57865026
116axonemal dynein complex assembly (GO:0070286)2.57441034
117protein localization to endosome (GO:0036010)2.56756544
118heart trabecula formation (GO:0060347)2.56517705
119drug catabolic process (GO:0042737)2.56162702
120regulation of rhodopsin mediated signaling pathway (GO:0022400)2.55907561
121exogenous drug catabolic process (GO:0042738)2.55621340
122positive regulation of histone deacetylation (GO:0031065)2.54906021
123cornea development in camera-type eye (GO:0061303)2.54650683
124regulation of male gonad development (GO:2000018)2.54087508
125peptidyl-histidine modification (GO:0018202)2.53726783
126membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.53650677
127hindbrain development (GO:0030902)2.52928837
128fusion of sperm to egg plasma membrane (GO:0007342)2.52194309
129layer formation in cerebral cortex (GO:0021819)2.52061280
130membrane depolarization during action potential (GO:0086010)2.51935182
131regulation of calcium ion transmembrane transporter activity (GO:1901019)2.51572198
132regulation of calcium ion transmembrane transport (GO:1903169)2.51572198
133establishment of protein localization to Golgi (GO:0072600)2.50423223
134regulation of ARF protein signal transduction (GO:0032012)2.49586085
135ventricular cardiac muscle cell action potential (GO:0086005)2.49314471
136misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.49213783
137retrograde transport, vesicle recycling within Golgi (GO:0000301)2.48896246
138regulation of microtubule-based movement (GO:0060632)2.48419486
139DNA methylation involved in gamete generation (GO:0043046)2.46023361
140eye photoreceptor cell differentiation (GO:0001754)2.45746505
141photoreceptor cell differentiation (GO:0046530)2.45746505
142membrane repolarization (GO:0086009)2.44675275
143astrocyte differentiation (GO:0048708)2.43607546
144type B pancreatic cell development (GO:0003323)2.43363784
145neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.43356316
146left/right pattern formation (GO:0060972)2.42614332
147protein localization to Golgi apparatus (GO:0034067)2.41892753
148neurotransmitter catabolic process (GO:0042135)2.40124442
149negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.40119923
150regulation of actin filament-based movement (GO:1903115)2.39954938
151lactate metabolic process (GO:0006089)2.39770933
152centriole replication (GO:0007099)2.39762173
153regulation of synapse structural plasticity (GO:0051823)2.39254797
154male meiosis I (GO:0007141)2.39020194
155positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.38620098
156peristalsis (GO:0030432)2.38560126
157cardiac cell development (GO:0055006)2.38287148
158growth hormone secretion (GO:0030252)2.37746563
159ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.37469428
160carnitine transport (GO:0015879)2.37012998
161amino-acid betaine transport (GO:0015838)2.37012998
162carnitine transmembrane transport (GO:1902603)2.36817399
163retina layer formation (GO:0010842)2.36502272
164striated muscle contraction (GO:0006941)2.36394990
165negative regulation of hormone biosynthetic process (GO:0032353)2.35781683
166response to pheromone (GO:0019236)2.35674470
167regulation of cilium movement (GO:0003352)2.35253257
168cell morphogenesis involved in neuron differentiation (GO:0048667)2.35180963
169carnitine shuttle (GO:0006853)2.34780114
170locomotory exploration behavior (GO:0035641)2.34224941
171cellular response to ATP (GO:0071318)2.34104911
172thyroid hormone metabolic process (GO:0042403)2.34075295
173protein maturation by protein folding (GO:0022417)2.33888899
174neuronal action potential (GO:0019228)2.33879591
175potassium ion homeostasis (GO:0055075)2.33822614
176COPII vesicle coating (GO:0048208)2.31963930
177actin-mediated cell contraction (GO:0070252)2.30243797
178positive regulation of potassium ion transport (GO:0043268)2.29368511
179regulation of skeletal muscle contraction (GO:0014819)2.29309973
180synaptonemal complex organization (GO:0070193)2.26225944
181regulation of potassium ion transmembrane transport (GO:1901379)2.24795238
182regulation of potassium ion transmembrane transporter activity (GO:1901016)2.22943864
183CDP-diacylglycerol metabolic process (GO:0046341)2.22387567
184epithelial cell fate commitment (GO:0072148)2.21618069
185negative regulation of nucleotide catabolic process (GO:0030812)2.21587790
186protein hydroxylation (GO:0018126)2.19626235
187CDP-diacylglycerol biosynthetic process (GO:0016024)2.19460930
188muscle cell cellular homeostasis (GO:0046716)2.18411022
189activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.18251606

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.37029823
2VDR_22108803_ChIP-Seq_LS180_Human2.78062213
3RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.77091416
4ZNF274_21170338_ChIP-Seq_K562_Hela2.55524669
5DROSHA_22980978_ChIP-Seq_HELA_Human2.41957189
6AR_21572438_ChIP-Seq_LNCaP_Human2.26207561
7EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.15429560
8SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.11152390
9STAT6_21828071_ChIP-Seq_BEAS2B_Human2.09853944
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.07687980
11TP53_16413492_ChIP-PET_HCT116_Human1.99895835
12EP300_21415370_ChIP-Seq_HL-1_Mouse1.98941488
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.98387286
14CTBP1_25329375_ChIP-Seq_LNCAP_Human1.98172381
15GBX2_23144817_ChIP-Seq_PC3_Human1.95707158
16ZNF263_19887448_ChIP-Seq_K562_Human1.94751753
17TBX20_22328084_ChIP-Seq_HEART_Mouse1.92257317
18TBX20_22080862_ChIP-Seq_HEART_Mouse1.92257317
19STAT3_23295773_ChIP-Seq_U87_Human1.85066232
20RBPJ_22232070_ChIP-Seq_NCS_Mouse1.80934419
21KDM2B_26808549_Chip-Seq_K562_Human1.76615436
22ER_23166858_ChIP-Seq_MCF-7_Human1.75619918
23BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.74183605
24AHR_22903824_ChIP-Seq_MCF-7_Human1.73516873
25TCF4_23295773_ChIP-Seq_U87_Human1.72704249
26EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.72316258
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.68435491
28REST_21632747_ChIP-Seq_MESCs_Mouse1.68294124
29TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.67437079
30KDM2B_26808549_Chip-Seq_DND41_Human1.64202717
31ARNT_22903824_ChIP-Seq_MCF-7_Human1.63911406
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62636519
33EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.61737213
34EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.60235680
35SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.59845958
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.57071164
37DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.56829403
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.56547837
39AR_25329375_ChIP-Seq_VCAP_Human1.55488347
40EZH2_27294783_Chip-Seq_ESCs_Mouse1.52181548
41MTF2_20144788_ChIP-Seq_MESCs_Mouse1.51901928
42WT1_25993318_ChIP-Seq_PODOCYTE_Human1.46976616
43FOXA1_27270436_Chip-Seq_PROSTATE_Human1.46813490
44FOXA1_25329375_ChIP-Seq_VCAP_Human1.46813490
45TAF15_26573619_Chip-Seq_HEK293_Human1.46268437
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.46032512
47ZFP281_18757296_ChIP-ChIP_E14_Mouse1.42884882
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.42515497
49EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.40203778
50GATA3_21878914_ChIP-Seq_MCF-7_Human1.38587362
51TET1_21490601_ChIP-Seq_MESCs_Mouse1.37517206
52TP53_22573176_ChIP-Seq_HFKS_Human1.37175740
53SUZ12_27294783_Chip-Seq_ESCs_Mouse1.36468129
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.36171233
55NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.35633115
56TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.35627653
57OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.35535437
58HOXB7_26014856_ChIP-Seq_BT474_Human1.34904867
59NR3C1_21868756_ChIP-Seq_MCF10A_Human1.33768689
60P300_27058665_Chip-Seq_ZR-75-30cells_Human1.32931817
61TBL1_22424771_ChIP-Seq_293T_Human1.32626848
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.32181188
63GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.32051225
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.30829163
65MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29765669
66NFIB_24661679_ChIP-Seq_LUNG_Mouse1.29270751
67MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.29052599
68ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.29024383
69ESR2_21235772_ChIP-Seq_MCF-7_Human1.28180045
70WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.28179794
71ZFP57_27257070_Chip-Seq_ESCs_Mouse1.27506628
72NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26821266
73ERA_21632823_ChIP-Seq_H3396_Human1.26784739
74CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.26576113
75REST_18959480_ChIP-ChIP_MESCs_Mouse1.26357930
76LXR_22292898_ChIP-Seq_THP-1_Human1.26302690
77CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.25762467
78RNF2_27304074_Chip-Seq_ESCs_Mouse1.25078774
79RNF2_18974828_ChIP-Seq_MESCs_Mouse1.23958233
80EZH2_18974828_ChIP-Seq_MESCs_Mouse1.23958233
81WDR5_24793694_ChIP-Seq_LNCAP_Human1.22647563
82GATA1_26923725_Chip-Seq_HPCs_Mouse1.20926090
83AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.20501259
84ISL1_27105846_Chip-Seq_CPCs_Mouse1.19574611
85EZH2_27304074_Chip-Seq_ESCs_Mouse1.18335479
86CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.17935654
87MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17915781
88ETV2_25802403_ChIP-Seq_MESCs_Mouse1.17715426
89POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17240674
90FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.17029224
91UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17022843
92CTCF_27219007_Chip-Seq_Bcells_Human1.16317767
93GATA4_25053715_ChIP-Seq_YYC3_Human1.16278690
94RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16270955
95NFYB_21822215_ChIP-Seq_K562_Human1.15956654
96TRIM28_21343339_ChIP-Seq_HEK293_Human1.15953131
97KLF4_19829295_ChIP-Seq_ESCs_Human1.14599085
98DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.14595378
99TP53_23651856_ChIP-Seq_MEFs_Mouse1.14541378
100BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14404369
101SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.14088381
102CREB1_26743006_Chip-Seq_LNCaP_Human1.13165492
103SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11835638
104SMC4_20622854_ChIP-Seq_HELA_Human1.11711453
105KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.11695169
106TP63_22573176_ChIP-Seq_HFKS_Human1.11455889
107CBP_20019798_ChIP-Seq_JUKART_Human1.11200782
108IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11200782
109TCF4_22108803_ChIP-Seq_LS180_Human1.10643909
110ZFP281_27345836_Chip-Seq_ESCs_Mouse1.10250263
111OCT4_20526341_ChIP-Seq_ESCs_Human1.08970013
112ESR1_20079471_ChIP-ChIP_T-47D_Human1.08917960
113JARID2_20075857_ChIP-Seq_MESCs_Mouse1.08824551
114NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08618321
115BCAT_22108803_ChIP-Seq_LS180_Human1.07351935
116KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.07248444
117SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.06987674
118KDM2B_26808549_Chip-Seq_JURKAT_Human1.06542156
119TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06283723
120GATA1_19941826_ChIP-Seq_K562_Human1.05847940
121EWS_26573619_Chip-Seq_HEK293_Human1.05578125
122TAF2_19829295_ChIP-Seq_ESCs_Human1.05474534
123FUS_26573619_Chip-Seq_HEK293_Human1.05092235
124PHF8_20622853_ChIP-Seq_HELA_Human1.04881109
125JARID2_20064375_ChIP-Seq_MESCs_Mouse1.04060583
126RUNX1_27514584_Chip-Seq_MCF-7_Human1.03965246
127SMAD4_21799915_ChIP-Seq_A2780_Human1.03929552
128P68_20966046_ChIP-Seq_HELA_Human1.03758125
129RACK7_27058665_Chip-Seq_MCF-7_Human1.03650370
130ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.03445942
131OCT1_27270436_Chip-Seq_PROSTATE_Human1.03285177
132CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.01523949
133PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.01402089
134TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.01323030
135KDM5A_27292631_Chip-Seq_BREAST_Human1.00562901
136SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.00290073
137RUNX2_22187159_ChIP-Seq_PCA_Human1.00194673
138DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99143896
139ETV1_20927104_ChIP-Seq_GIST48_Human0.98419699
140ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98402793
141MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97879300
142HNFA_21074721_ChIP-Seq_CACO-2_Human0.97867897
143FOXA2_19822575_ChIP-Seq_HepG2_Human0.97837724
144GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.97788006
145SMAD4_21741376_ChIP-Seq_EPCs_Human0.97732011
146TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97638925
147POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.97638925
148AR_19668381_ChIP-Seq_PC3_Human0.97545679
149NFYA_21822215_ChIP-Seq_K562_Human0.96882575
150EED_16625203_ChIP-ChIP_MESCs_Mouse0.96764984
151CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96716248
152ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96603711
153PRDM14_20953172_ChIP-Seq_ESCs_Human0.96462681
154RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.96019673
155FLI1_21867929_ChIP-Seq_TH2_Mouse0.95985013
156CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.95310919
157MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94766584
158FOXA1_25552417_ChIP-Seq_VCAP_Human0.93541972
159SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93516660
160CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.92891636
161BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92814767
162CDX2_22108803_ChIP-Seq_LS180_Human0.92531840
163RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.92449996
164MYC_19829295_ChIP-Seq_ESCs_Human0.92287845
165MITF_21258399_ChIP-Seq_MELANOMA_Human0.91601011
166SMAD3_21741376_ChIP-Seq_HESCs_Human0.91393445
167TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91113875
168PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.91006756
169IRF1_19129219_ChIP-ChIP_H3396_Human0.90533871
170OCT4_19829295_ChIP-Seq_ESCs_Human0.90367868
171RNF2_27304074_Chip-Seq_NSC_Mouse0.90342806
172TDRD3_21172665_ChIP-Seq_MCF-7_Human0.90302057
173TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89971106
174SOX2_21211035_ChIP-Seq_LN229_Gbm0.89821635
175SMAD4_21741376_ChIP-Seq_HESCs_Human0.89820812
176ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89683726
177SALL1_21062744_ChIP-ChIP_HESCs_Human0.89268297
178MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89012605
179ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88929460
180RING1B_27294783_Chip-Seq_ESCs_Mouse0.88190955
181ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.86916571
182FOXH1_21741376_ChIP-Seq_ESCs_Human0.86747092

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis3.92205105
2MP0004084_abnormal_cardiac_muscle3.13276101
3MP0000751_myopathy3.05935905
4MP0000013_abnormal_adipose_tissue2.92436387
5MP0003646_muscle_fatigue2.85441577
6MP0004233_abnormal_muscle_weight2.82240803
7MP0002653_abnormal_ependyma_morphology2.79716530
8MP0004036_abnormal_muscle_relaxation2.75965697
9MP0004145_abnormal_muscle_electrophysio2.74654343
10MP0005410_abnormal_fertilization2.67136523
11MP0004270_analgesia2.60558721
12MP0002876_abnormal_thyroid_physiology2.52143518
13MP0000003_abnormal_adipose_tissue2.49025795
14MP0004147_increased_porphyrin_level2.43230975
15MP0004043_abnormal_pH_regulation2.41121053
16MP0000427_abnormal_hair_cycle2.40787497
17MP0003787_abnormal_imprinting2.38349904
18MP0004215_abnormal_myocardial_fiber2.36359330
19MP0004142_abnormal_muscle_tone2.36125887
20MP0002138_abnormal_hepatobiliary_system2.33821313
21MP0005670_abnormal_white_adipose2.31366720
22MP0005551_abnormal_eye_electrophysiolog2.30179935
23MP0008961_abnormal_basal_metabolism2.29248123
24MP0005623_abnormal_meninges_morphology2.25947476
25MP0001485_abnormal_pinna_reflex2.22873624
26MP0002909_abnormal_adrenal_gland2.22700430
27MP0000747_muscle_weakness2.19339831
28MP0003137_abnormal_impulse_conducting2.16735964
29MP0000749_muscle_degeneration2.14169080
30MP0000569_abnormal_digit_pigmentation2.14107205
31MP0003195_calcinosis2.11380411
32MP0002638_abnormal_pupillary_reflex2.08658363
33MP0005375_adipose_tissue_phenotype2.01076327
34MP0004087_abnormal_muscle_fiber1.97122242
35MP0002928_abnormal_bile_duct1.94862226
36MP0004130_abnormal_muscle_cell1.93304152
37MP0002269_muscular_atrophy1.92802343
38MP0001986_abnormal_taste_sensitivity1.86014122
39MP0005620_abnormal_muscle_contractility1.83334227
40MP0002234_abnormal_pharynx_morphology1.83296569
41MP0005666_abnormal_adipose_tissue1.81679313
42MP0009780_abnormal_chondrocyte_physiolo1.80245728
43MP0005645_abnormal_hypothalamus_physiol1.79851349
44MP0004859_abnormal_synaptic_plasticity1.77305864
45MP0001873_stomach_inflammation1.76652209
46MP0003283_abnormal_digestive_organ1.76114352
47MP0004185_abnormal_adipocyte_glucose1.75673140
48MP0003329_amyloid_beta_deposits1.72311922
49MP0002972_abnormal_cardiac_muscle1.69772558
50MP0000759_abnormal_skeletal_muscle1.68339669
51MP0002106_abnormal_muscle_physiology1.66379894
52MP0005330_cardiomyopathy1.63895709
53MP0009384_cardiac_valve_regurgitation1.59737961
54MP0008875_abnormal_xenobiotic_pharmacok1.57990309
55MP0004858_abnormal_nervous_system1.57616043
56MP0000750_abnormal_muscle_regeneration1.57191836
57MP0005174_abnormal_tail_pigmentation1.57172130
58MP0004085_abnormal_heartbeat1.55322568
59MP0004742_abnormal_vestibular_system1.54248403
60MP0001299_abnormal_eye_distance/1.51162061
61MP0003890_abnormal_embryonic-extraembry1.47269536
62MP0000631_abnormal_neuroendocrine_gland1.45394110
63MP0000383_abnormal_hair_follicle1.40885594
64MP0008872_abnormal_physiological_respon1.40673095
65MP0008775_abnormal_heart_ventricle1.40447446
66MP0001984_abnormal_olfaction1.39389212
67MP0010630_abnormal_cardiac_muscle1.38429137
68MP0005369_muscle_phenotype1.38227937
69MP0009840_abnormal_foam_cell1.34395264
70MP0002557_abnormal_social/conspecific_i1.32886638
71MP0002877_abnormal_melanocyte_morpholog1.32424067
72MP0002102_abnormal_ear_morphology1.27954570
73MP0000733_abnormal_muscle_development1.27565459
74MP0001968_abnormal_touch/_nociception1.25635731
75MP0002938_white_spotting1.23186538
76MP0005253_abnormal_eye_physiology1.23067020
77MP0001188_hyperpigmentation1.21047114
78MP0002160_abnormal_reproductive_system1.20797481
79MP0004924_abnormal_behavior1.19130027
80MP0005386_behavior/neurological_phenoty1.19130027
81MP0003656_abnormal_erythrocyte_physiolo1.17446937
82MP0005385_cardiovascular_system_phenoty1.17147592
83MP0001544_abnormal_cardiovascular_syste1.17147592
84MP0003635_abnormal_synaptic_transmissio1.16858691
85MP0006138_congestive_heart_failure1.16728552
86MP0001270_distended_abdomen1.15177895
87MP0000470_abnormal_stomach_morphology1.14346823
88MP0005195_abnormal_posterior_eye1.12643747
89MP0001919_abnormal_reproductive_system1.12543070
90MP0002067_abnormal_sensory_capabilities1.12380311
91MP0002229_neurodegeneration1.11746215
92MP0000538_abnormal_urinary_bladder1.08982267
93MP0005389_reproductive_system_phenotype1.06882133
94MP0009745_abnormal_behavioral_response1.06473157
95MP0001502_abnormal_circadian_rhythm1.05918502
96MP0006072_abnormal_retinal_apoptosis1.04364651
97MP0003698_abnormal_male_reproductive1.03049891
98MP0010678_abnormal_skin_adnexa1.02581097
99MP0001765_abnormal_ion_homeostasis1.02464949
100MP0002734_abnormal_mechanical_nocicepti1.00951977
101MP0001944_abnormal_pancreas_morphology1.00255957
102MP0005646_abnormal_pituitary_gland0.97800983
103MP0001849_ear_inflammation0.97704739
104MP0003718_maternal_effect0.97164782
105MP0002822_catalepsy0.96852182
106MP0000230_abnormal_systemic_arterial0.95413183
107MP0006276_abnormal_autonomic_nervous0.93978143
108MP0002163_abnormal_gland_morphology0.92809332
109MP0008569_lethality_at_weaning0.92788529
110MP0003959_abnormal_lean_body0.92652797
111MP0002098_abnormal_vibrissa_morphology0.92528873
112MP0003950_abnormal_plasma_membrane0.89803765
113MP0000678_abnormal_parathyroid_gland0.89195956
114MP0003634_abnormal_glial_cell0.89092389
115MP0010329_abnormal_lipoprotein_level0.88505171
116MP0002971_abnormal_brown_adipose0.87847171
117MP0003221_abnormal_cardiomyocyte_apopto0.87552735
118MP0002063_abnormal_learning/memory/cond0.86646135
119MP0002078_abnormal_glucose_homeostasis0.85984049
120MP0001324_abnormal_eye_pigmentation0.85441517
121MP0002572_abnormal_emotion/affect_behav0.84806147
122MP0008995_early_reproductive_senescence0.84417422
123MP0001764_abnormal_homeostasis0.83950029
124MP0002127_abnormal_cardiovascular_syste0.83623082
125MP0000026_abnormal_inner_ear0.83538510
126MP0005332_abnormal_amino_acid0.83515550
127MP0003953_abnormal_hormone_level0.83493106
128MP0005409_darkened_coat_color0.82455706
129MP0005365_abnormal_bile_salt0.82360243
130MP0001756_abnormal_urination0.81514050
131MP0002064_seizures0.81142919
132MP0004484_altered_response_of0.81113113
133MP0009046_muscle_twitch0.80811448
134MP0003936_abnormal_reproductive_system0.80198783
135MP0003091_abnormal_cell_migration0.79781774
136MP0005379_endocrine/exocrine_gland_phen0.79009751
137MP0000955_abnormal_spinal_cord0.78967997
138MP0003252_abnormal_bile_duct0.78754158
139MP0002733_abnormal_thermal_nociception0.78601301
140MP0004019_abnormal_vitamin_homeostasis0.78385250
141MP0008877_abnormal_DNA_methylation0.77160317
142MP0002693_abnormal_pancreas_physiology0.76629103
143MP0003045_fibrosis0.76115191
144MP0000266_abnormal_heart_morphology0.76037270
145MP0005187_abnormal_penis_morphology0.75342245
146MP0001929_abnormal_gametogenesis0.75135828
147MP0009643_abnormal_urine_homeostasis0.75114636
148MP0001486_abnormal_startle_reflex0.75039917
149MP0002752_abnormal_somatic_nervous0.74809106
150MP0001440_abnormal_grooming_behavior0.72990864
151MP0005423_abnormal_somatic_nervous0.72815285
152MP0001664_abnormal_digestion0.72718433
153MP0004133_heterotaxia0.72097824
154MP0002108_abnormal_muscle_morphology0.71770948
155MP0004811_abnormal_neuron_physiology0.71243872
156MP0004885_abnormal_endolymph0.69010685
157MP0003300_gastrointestinal_ulcer0.68150354
158MP0000534_abnormal_ureter_morphology0.67908194
159MP0002066_abnormal_motor_capabilities/c0.66903411
160MP0002272_abnormal_nervous_system0.66666713
161MP0001970_abnormal_pain_threshold0.66653325
162MP0010386_abnormal_urinary_bladder0.65302645
163MP0000920_abnormal_myelination0.64248055
164MP0002896_abnormal_bone_mineralization0.63382889
165MP0002882_abnormal_neuron_morphology0.63029180
166MP0002152_abnormal_brain_morphology0.62722544
167MP0001727_abnormal_embryo_implantation0.61547209
168MP0004272_abnormal_basement_membrane0.61385146
169MP0000462_abnormal_digestive_system0.60341726
170MP0003172_abnormal_lysosome_physiology0.57791013
171MP0002161_abnormal_fertility/fecundity0.56370582
172MP0009672_abnormal_birth_weight0.55400991
173MP0005535_abnormal_body_temperature0.55378824

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of midbrain morphology (HP:0002418)4.80867350
2Molar tooth sign on MRI (HP:0002419)4.80867350
3Hyperventilation (HP:0002883)4.53034396
4Exercise-induced myalgia (HP:0003738)4.52778451
5Tubular atrophy (HP:0000092)4.27825407
6Difficulty running (HP:0009046)4.24464046
7Pancreatic fibrosis (HP:0100732)4.16207431
8Pancreatic cysts (HP:0001737)4.05232803
9Hyporeflexia of lower limbs (HP:0002600)4.03923269
10True hermaphroditism (HP:0010459)4.01682517
11Muscle fiber splitting (HP:0003555)3.94767991
12Sudden death (HP:0001699)3.87258389
13Exercise-induced muscle cramps (HP:0003710)3.81728741
14Ventricular tachycardia (HP:0004756)3.79964717
15Hypoplastic iliac wings (HP:0002866)3.75694550
16Calf muscle hypertrophy (HP:0008981)3.67572701
1711 pairs of ribs (HP:0000878)3.60151000
18Muscle hypertrophy of the lower extremities (HP:0008968)3.52291665
19Nephronophthisis (HP:0000090)3.45745374
20Bundle branch block (HP:0011710)3.44091105
21Protruding tongue (HP:0010808)3.43278818
22Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.40020402
23Agitation (HP:0000713)3.38979517
24Myoglobinuria (HP:0002913)3.33831860
25Atrial fibrillation (HP:0005110)3.16674843
26Abnormality of the pons (HP:0007361)3.14724849
27Hypoplasia of the pons (HP:0012110)3.14633873
28Disproportionate short-trunk short stature (HP:0003521)3.14578892
29Abnormality of the renal cortex (HP:0011035)3.14462742
30Abnormality of the renal medulla (HP:0100957)3.14426317
31Congenital stationary night blindness (HP:0007642)3.08142753
32Cerebellar dysplasia (HP:0007033)3.06707413
33Chronic hepatic failure (HP:0100626)3.06115702
34Birth length less than 3rd percentile (HP:0003561)3.05904137
35Cystic liver disease (HP:0006706)3.00531368
36Primary atrial arrhythmia (HP:0001692)2.99847572
37Difficulty climbing stairs (HP:0003551)2.93641020
38Prolonged QT interval (HP:0001657)2.92713586
39Abnormal drinking behavior (HP:0030082)2.89846862
40Polydipsia (HP:0001959)2.89846862
41Ventricular fibrillation (HP:0001663)2.88862651
42Hyperinsulinemic hypoglycemia (HP:0000825)2.84126746
43Abnormality of the calf musculature (HP:0001430)2.83437594
44Supraventricular tachycardia (HP:0004755)2.80716491
45Dynein arm defect of respiratory motile cilia (HP:0012255)2.80153885
46Absent/shortened dynein arms (HP:0200106)2.80153885
47Supraventricular arrhythmia (HP:0005115)2.79599819
48Medial flaring of the eyebrow (HP:0010747)2.78802948
49Abnormality of the left ventricular outflow tract (HP:0011103)2.74906280
50Subaortic stenosis (HP:0001682)2.74906280
51Lissencephaly (HP:0001339)2.72880139
52Bronchomalacia (HP:0002780)2.71341847
53Patellar aplasia (HP:0006443)2.68998077
54Large for gestational age (HP:0001520)2.64830062
55Insulin-resistant diabetes mellitus (HP:0000831)2.64477556
56Abnormal EKG (HP:0003115)2.63270322
57Increased variability in muscle fiber diameter (HP:0003557)2.58556747
58Clumsiness (HP:0002312)2.57975264
59Severe muscular hypotonia (HP:0006829)2.57707105
60Aplasia/Hypoplasia of the patella (HP:0006498)2.53486141
61Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.52549026
62Abnormality of alanine metabolism (HP:0010916)2.52549026
63Hyperalaninemia (HP:0003348)2.52549026
64Genetic anticipation (HP:0003743)2.51305793
65EMG: myopathic abnormalities (HP:0003458)2.50073130
66Furrowed tongue (HP:0000221)2.49948620
67Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.49012739
68Syncope (HP:0001279)2.47192403
69Supranuclear gaze palsy (HP:0000605)2.47151294
70Tachypnea (HP:0002789)2.45454041
71Mesangial abnormality (HP:0001966)2.44759617
72Myotonia (HP:0002486)2.43953418
73Abnormal respiratory motile cilium physiology (HP:0012261)2.43335994
74Abnormality of the wing of the ilium (HP:0011867)2.42453724
75Asymmetric septal hypertrophy (HP:0001670)2.38280172
76Ketoacidosis (HP:0001993)2.36563587
77Concave nail (HP:0001598)2.32767152
78Breast hypoplasia (HP:0003187)2.31943127
79Ankle clonus (HP:0011448)2.31832243
80Cerebral inclusion bodies (HP:0100314)2.30792910
81Rapidly progressive (HP:0003678)2.26002523
82Macroglossia (HP:0000158)2.22868140
83Neurofibrillary tangles (HP:0002185)2.22558482
84Congenital hepatic fibrosis (HP:0002612)2.21778565
85Hemiplegia (HP:0002301)2.20935877
86Abnormal pancreas size (HP:0012094)2.20563556
87Morphological abnormality of the inner ear (HP:0011390)2.19755910
88Abnormality of skeletal muscle fiber size (HP:0012084)2.18667558
89Gowers sign (HP:0003391)2.18074467
90Male pseudohermaphroditism (HP:0000037)2.17637042
91Heart block (HP:0012722)2.16853684
92Partial agenesis of the corpus callosum (HP:0001338)2.15152170
93Male infertility (HP:0003251)2.13103193
94Muscle fiber inclusion bodies (HP:0100299)2.13028251
95Hyperglycemia (HP:0003074)2.11989320
96Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.10666623
97Tracheomalacia (HP:0002779)2.10425306
98Type 1 muscle fiber predominance (HP:0003803)2.09401901
99Hypoplastic labia majora (HP:0000059)2.09280697
100Chronic bronchitis (HP:0004469)2.08015687
101Aplasia/Hypoplasia of the tongue (HP:0010295)2.06812014
102Gait imbalance (HP:0002141)2.05990274
103Nephrogenic diabetes insipidus (HP:0009806)2.05406831
104Decreased circulating renin level (HP:0003351)2.04875101
105Pachygyria (HP:0001302)2.02753703
106Increased connective tissue (HP:0009025)2.02535088
107Atrioventricular block (HP:0001678)2.02273934
108EMG: neuropathic changes (HP:0003445)2.01424220
109Abnormal atrioventricular conduction (HP:0005150)2.00815583
110Progressive inability to walk (HP:0002505)2.00123047
111Upper limb amyotrophy (HP:0009129)1.99881163
112Distal upper limb amyotrophy (HP:0007149)1.99881163
113Central scotoma (HP:0000603)1.99552178
114Bulbous nose (HP:0000414)1.98480052
115Gaze-evoked nystagmus (HP:0000640)1.98036628
116Inability to walk (HP:0002540)1.97681956
117Congenital primary aphakia (HP:0007707)1.97477394
118Ventricular arrhythmia (HP:0004308)1.96271534
119Rhabdomyolysis (HP:0003201)1.95946356
120Fair hair (HP:0002286)1.95906586
121Scapular winging (HP:0003691)1.94480132
122Sclerocornea (HP:0000647)1.94468003
123Pheochromocytoma (HP:0002666)1.94427647
124Cerebral aneurysm (HP:0004944)1.93121801
125Restlessness (HP:0000711)1.92813811
126Termporal pattern (HP:0011008)1.92124915
127Insidious onset (HP:0003587)1.92124915
128Dilated cardiomyopathy (HP:0001644)1.90537125
129Hypoplastic ilia (HP:0000946)1.90458557
130Poor coordination (HP:0002370)1.89984377
131Abnormality of the labia majora (HP:0012881)1.89946465
132Visual hallucinations (HP:0002367)1.89713662
133Hypoplastic nipples (HP:0002557)1.89062433
134Hyperthyroidism (HP:0000836)1.88926345
135Papilledema (HP:0001085)1.88388715
136Stage 5 chronic kidney disease (HP:0003774)1.87849992
137Rhinitis (HP:0012384)1.87521246
138Hyperkalemia (HP:0002153)1.86909578
139Lipoatrophy (HP:0100578)1.86495785
140Hypoglycemic coma (HP:0001325)1.84886850
141Megalencephaly (HP:0001355)1.84277865
142Infertility (HP:0000789)1.83504331
143Chorioretinal atrophy (HP:0000533)1.82906902
144Lower limb muscle weakness (HP:0007340)1.82684174
145Mildly elevated creatine phosphokinase (HP:0008180)1.80976263
146Progressive microcephaly (HP:0000253)1.80463623
147Broad-based gait (HP:0002136)1.79792411
148Deep palmar crease (HP:0006191)1.79448522
149Scrotal hypoplasia (HP:0000046)1.79155077
150Left ventricular hypertrophy (HP:0001712)1.78686021
151Attenuation of retinal blood vessels (HP:0007843)1.78262594
152Hypoplasia of the odontoid process (HP:0003311)1.77391590
153Abnormal ciliary motility (HP:0012262)1.76813133
154Abnormality of DNA repair (HP:0003254)1.76429079
155Widely spaced teeth (HP:0000687)1.76154696
156Polyuria (HP:0000103)1.75252028
157Neoplasm of the heart (HP:0100544)1.75026838
158Testicular atrophy (HP:0000029)1.74704002
159Absent speech (HP:0001344)1.74503055
160Prominent nasal bridge (HP:0000426)1.74056378
161Muscle stiffness (HP:0003552)1.73911655
162Duplicated collecting system (HP:0000081)1.73798212
163Intellectual disability, severe (HP:0010864)1.73623037
164Tubulointerstitial nephritis (HP:0001970)1.73011439
165Proximal amyotrophy (HP:0007126)1.72981162
166Round ear (HP:0100830)1.72944579
167Septate vagina (HP:0001153)1.72237192
168Spastic tetraparesis (HP:0001285)1.71963577
169Global brain atrophy (HP:0002283)1.71338442
170Abnormality of the musculature of the hand (HP:0001421)1.70887245
171Spastic gait (HP:0002064)1.70568821
172Congenital sensorineural hearing impairment (HP:0008527)1.69296601
173Microretrognathia (HP:0000308)1.68881482
174Hypoalbuminemia (HP:0003073)1.68812986
175Abnormal albumin level (HP:0012116)1.68812986
176Retinal dysplasia (HP:0007973)1.68285268
177Intellectual disability, progressive (HP:0006887)1.68190276
178Generalized hypopigmentation of hair (HP:0011358)1.68124022
179Tubulointerstitial abnormality (HP:0001969)1.67389614
180Abnormal respiratory motile cilium morphology (HP:0005938)1.67229941
181Abnormal respiratory epithelium morphology (HP:0012253)1.67229941
182Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.66307570
183Degeneration of the lateral corticospinal tracts (HP:0002314)1.66307570
184Hyperparathyroidism (HP:0000843)1.65653255
185Bradycardia (HP:0001662)1.65277888
186Myopathic facies (HP:0002058)1.64614137
187Insomnia (HP:0100785)1.64084395
188Gout (HP:0001997)1.63246709
189Pancreatic islet-cell hyperplasia (HP:0004510)1.62694775
190Nemaline bodies (HP:0003798)1.61707516
191Type II lissencephaly (HP:0007260)1.61303517

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK14.53306686
2PRKD34.20897788
3FRK3.97733784
4TSSK63.80926805
5TRIB33.31281897
6WNK43.04447516
7PDK32.98328858
8PDK42.98328858
9TAOK32.69960409
10MAPK152.65142966
11TTN2.54176904
12BMPR1B2.36988298
13DMPK2.32943229
14PHKG12.16763950
15PHKG22.16763950
16GRK12.15654817
17ICK2.11181333
18DAPK22.09997262
19WNK11.99834120
20ADRBK21.92889581
21CAMK1G1.91431332
22AKT31.91092117
23CASK1.81494649
24PNCK1.73612808
25PDGFRA1.70501442
26TYRO31.69159100
27LMTK21.66331823
28FGFR21.66154711
29STK391.60565284
30TRPM71.58835549
31MAPKAPK31.54893516
32PDK21.49460097
33PAK61.42629991
34PAK31.42005848
35PKN21.39286290
36MAPKAPK51.38039943
37NTRK21.37669943
38STK38L1.36912116
39TESK11.34277061
40EPHB11.31754292
41ACVR1B1.27475600
42MARK21.26556433
43RIPK11.24716451
44TAOK11.22599604
45WEE11.21472953
46KSR21.20398316
47UHMK11.18916544
48MAP3K91.18845114
49WNK31.18241818
50MTOR1.15614370
51PTK2B1.14298873
52PRKD11.13485534
53RET1.09765456
54MELK1.08769043
55BRD41.08190246
56CAMK1D1.06314839
57CDC42BPA1.02720206
58OBSCN1.00222338
59FGFR40.99261745
60TIE10.99012601
61LATS20.97357130
62EEF2K0.97320906
63NTRK10.97244873
64ADRBK10.97144757
65PRKCH0.96256480
66NTRK30.96205557
67PTK20.94332646
68PINK10.93675908
69MAP3K100.91959175
70HIPK20.90954685
71MAPK130.89043937
72STK380.86924107
73TGFBR10.86361583
74PDPK10.84840414
75PRKD20.83303071
76SIK20.82570428
77PTK60.81364175
78BCKDK0.81183412
79PDGFRB0.78412119
80PRKAA10.78393686
81MAP4K20.78292403
82MARK10.78259462
83NEK10.78005976
84PRKAA20.76598794
85STK30.73103308
86CAMKK10.73004266
87SIK10.72649476
88CAMK2D0.67797140
89DYRK1B0.67047429
90NLK0.65507465
91PRKCG0.64517712
92MINK10.64313495
93CDK50.62806296
94CAMK10.61260054
95ZAK0.61089612
96MET0.60827978
97CAMKK20.59802627
98MAPK100.59311288
99PAK20.57356661
100BLK0.57328592
101BRSK20.56909018
102KSR10.56076613
103MAP3K70.54367055
104SGK20.53764061
105NEK20.53638525
106CDK30.53477133
107CAMK40.53442072
108PDK10.53424365
109MAP3K20.53265103
110FGFR10.53056380
111ROCK10.52208593
112OXSR10.52117969
113ROCK20.50624091
114ILK0.50330209
115LIMK10.49264021
116MAP3K10.48624453
117EPHA20.46432955
118MAP2K10.45541527
119GSK3A0.42715582
120FGFR30.41783811
121MAP3K40.41730230
122PRKCI0.41311569
123PRKCE0.41013382
124SGK2230.41010662
125SGK4940.41010662
126RPS6KA30.40811693
127MAPK110.40309273
128RPS6KA60.38725742
129STK240.38627699
130CHUK0.38578418
131ERBB20.38455172
132CLK10.38399329
133PASK0.37908707
134BRAF0.37574979
135ALK0.37034135
136CAMK2A0.36815915
137INSRR0.36304579
138FER0.35900838
139PRKCZ0.35117008
140STK110.34739658
141CSNK1E0.34490034
142SCYL20.33767039
143GSK3B0.32851010
144SGK30.32727189
145MAPK120.32331684
146MAPK80.30966035
147AKT10.30881899
148MAP2K20.30057275
149MAP2K60.27568444
150MAP3K130.27519114
151MAPK140.27480808
152MAP3K110.26823654
153TLK10.25065880
154RPS6KB20.24986310
155PRKCQ0.23827711

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.15812808
2Linoleic acid metabolism_Homo sapiens_hsa005913.05539919
3Phototransduction_Homo sapiens_hsa047442.73604681
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.72871620
5Ether lipid metabolism_Homo sapiens_hsa005652.49664045
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.40038960
7Butanoate metabolism_Homo sapiens_hsa006502.36154573
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.31859295
9Insulin secretion_Homo sapiens_hsa049112.20463962
10Nitrogen metabolism_Homo sapiens_hsa009102.15845110
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.10292112
12Cardiac muscle contraction_Homo sapiens_hsa042602.07054602
13Basal transcription factors_Homo sapiens_hsa030222.00731967
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.96463137
15Sulfur relay system_Homo sapiens_hsa041221.95957285
16Dilated cardiomyopathy_Homo sapiens_hsa054141.94708332
17Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.88101150
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.78158554
19Type II diabetes mellitus_Homo sapiens_hsa049301.75477738
20ABC transporters_Homo sapiens_hsa020101.72613674
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.72605735
22Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.71774100
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.69482514
24Carbohydrate digestion and absorption_Homo sapiens_hsa049731.67547309
25Glycosaminoglycan degradation_Homo sapiens_hsa005311.62575756
26Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.57683274
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.54765574
28Ovarian steroidogenesis_Homo sapiens_hsa049131.49737620
29Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.48598934
30Synaptic vesicle cycle_Homo sapiens_hsa047211.48376000
31Nicotine addiction_Homo sapiens_hsa050331.47104444
32Selenocompound metabolism_Homo sapiens_hsa004501.42057993
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.42006856
34Glucagon signaling pathway_Homo sapiens_hsa049221.41698081
35Dorso-ventral axis formation_Homo sapiens_hsa043201.36722117
36Dopaminergic synapse_Homo sapiens_hsa047281.34975984
37Gastric acid secretion_Homo sapiens_hsa049711.31773226
38Renal cell carcinoma_Homo sapiens_hsa052111.31171585
39Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.30354859
40Cholinergic synapse_Homo sapiens_hsa047251.30253411
41Circadian entrainment_Homo sapiens_hsa047131.28509677
42Long-term potentiation_Homo sapiens_hsa047201.26612204
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.26247564
44Renin secretion_Homo sapiens_hsa049241.24625401
45Oxytocin signaling pathway_Homo sapiens_hsa049211.24261273
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.24172525
47Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.22837712
48Thyroid hormone signaling pathway_Homo sapiens_hsa049191.21796458
49AMPK signaling pathway_Homo sapiens_hsa041521.20727539
50Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.19599205
51Aldosterone synthesis and secretion_Homo sapiens_hsa049251.19247979
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.17460190
53Pancreatic secretion_Homo sapiens_hsa049721.17446615
54Insulin resistance_Homo sapiens_hsa049311.17402478
55Cocaine addiction_Homo sapiens_hsa050301.16574492
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13613563
57VEGF signaling pathway_Homo sapiens_hsa043701.13239516
582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.12436109
59Estrogen signaling pathway_Homo sapiens_hsa049151.10442663
60Amphetamine addiction_Homo sapiens_hsa050311.08482980
61GABAergic synapse_Homo sapiens_hsa047271.06128334
62Vascular smooth muscle contraction_Homo sapiens_hsa042701.06086180
63Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.05579242
64Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04075651
65Lysine degradation_Homo sapiens_hsa003101.03475826
66One carbon pool by folate_Homo sapiens_hsa006701.02965734
67Glutamatergic synapse_Homo sapiens_hsa047241.01977729
68Arachidonic acid metabolism_Homo sapiens_hsa005901.01472657
69Propanoate metabolism_Homo sapiens_hsa006401.00855019
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.99937817
71Tight junction_Homo sapiens_hsa045300.99523481
72mTOR signaling pathway_Homo sapiens_hsa041500.98834522
73cAMP signaling pathway_Homo sapiens_hsa040240.98723671
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.97022924
75Salivary secretion_Homo sapiens_hsa049700.96232467
76Phosphatidylinositol signaling system_Homo sapiens_hsa040700.95386728
77Insulin signaling pathway_Homo sapiens_hsa049100.95353176
78Oocyte meiosis_Homo sapiens_hsa041140.95135649
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.91932984
80Taste transduction_Homo sapiens_hsa047420.91757283
81Morphine addiction_Homo sapiens_hsa050320.90377954
82Gap junction_Homo sapiens_hsa045400.89779098
83Glioma_Homo sapiens_hsa052140.89488689
84Olfactory transduction_Homo sapiens_hsa047400.89170464
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.88969192
86Vibrio cholerae infection_Homo sapiens_hsa051100.87210072
87Homologous recombination_Homo sapiens_hsa034400.86821549
88Sphingolipid metabolism_Homo sapiens_hsa006000.86149492
89GnRH signaling pathway_Homo sapiens_hsa049120.85331477
90Glycerolipid metabolism_Homo sapiens_hsa005610.84774109
91Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.84568577
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.83567323
93Bile secretion_Homo sapiens_hsa049760.83325657
94Calcium signaling pathway_Homo sapiens_hsa040200.82866431
95Endocytosis_Homo sapiens_hsa041440.82805262
96Focal adhesion_Homo sapiens_hsa045100.82467789
97Fatty acid metabolism_Homo sapiens_hsa012120.82467266
98Fatty acid biosynthesis_Homo sapiens_hsa000610.82325257
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.82245303
100Thyroid hormone synthesis_Homo sapiens_hsa049180.78733492
101Chemical carcinogenesis_Homo sapiens_hsa052040.76725776
102Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76033761
103Pyruvate metabolism_Homo sapiens_hsa006200.75701415
104Protein export_Homo sapiens_hsa030600.74129034
105Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.74073276
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.73829074
107Peroxisome_Homo sapiens_hsa041460.72441607
108Tryptophan metabolism_Homo sapiens_hsa003800.71579548
109Axon guidance_Homo sapiens_hsa043600.71291544
110ErbB signaling pathway_Homo sapiens_hsa040120.70270995
111Neurotrophin signaling pathway_Homo sapiens_hsa047220.69297230
112Circadian rhythm_Homo sapiens_hsa047100.68594232
113Proteoglycans in cancer_Homo sapiens_hsa052050.68541983
114Inositol phosphate metabolism_Homo sapiens_hsa005620.67449265
115Carbon metabolism_Homo sapiens_hsa012000.67381476
116Melanogenesis_Homo sapiens_hsa049160.67374869
117Retinol metabolism_Homo sapiens_hsa008300.67006286
118Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.66991109
119Choline metabolism in cancer_Homo sapiens_hsa052310.66633494
120Caffeine metabolism_Homo sapiens_hsa002320.65717066
121Collecting duct acid secretion_Homo sapiens_hsa049660.65213262
122Mineral absorption_Homo sapiens_hsa049780.65113148
123Vitamin digestion and absorption_Homo sapiens_hsa049770.64889221
124Long-term depression_Homo sapiens_hsa047300.64261716
125RNA degradation_Homo sapiens_hsa030180.64107490
126Hedgehog signaling pathway_Homo sapiens_hsa043400.63029229
127Regulation of autophagy_Homo sapiens_hsa041400.62992242
128Cyanoamino acid metabolism_Homo sapiens_hsa004600.62897942
129Protein digestion and absorption_Homo sapiens_hsa049740.62858572
130Notch signaling pathway_Homo sapiens_hsa043300.59887756
131Hippo signaling pathway_Homo sapiens_hsa043900.59087278
132Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.58262179
133Fat digestion and absorption_Homo sapiens_hsa049750.57308500
134Histidine metabolism_Homo sapiens_hsa003400.56123526
135Sphingolipid signaling pathway_Homo sapiens_hsa040710.54011091
136Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.53443613
137Fatty acid degradation_Homo sapiens_hsa000710.52625618
138Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.50957563
139Chronic myeloid leukemia_Homo sapiens_hsa052200.50869542
140Glycerophospholipid metabolism_Homo sapiens_hsa005640.50385225
141MAPK signaling pathway_Homo sapiens_hsa040100.48786298
142Alzheimers disease_Homo sapiens_hsa050100.48699195
143HIF-1 signaling pathway_Homo sapiens_hsa040660.48178485
144Steroid biosynthesis_Homo sapiens_hsa001000.47670916
145Ras signaling pathway_Homo sapiens_hsa040140.47498166
146Fanconi anemia pathway_Homo sapiens_hsa034600.47395220
147Serotonergic synapse_Homo sapiens_hsa047260.47018527
148Endometrial cancer_Homo sapiens_hsa052130.45679925
149Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43854008
150Wnt signaling pathway_Homo sapiens_hsa043100.43267840
151beta-Alanine metabolism_Homo sapiens_hsa004100.38782397
152Primary bile acid biosynthesis_Homo sapiens_hsa001200.38736987
153Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.38156256
154Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36008700
155Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.32445280

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