GDNF

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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)6.42929993
2metanephric mesenchyme development (GO:0072075)5.83107534
3kidney mesenchyme development (GO:0072074)5.63611101
4proximal/distal pattern formation (GO:0009954)5.41871722
5pattern specification involved in kidney development (GO:0061004)5.20016030
6mesenchymal cell differentiation involved in renal system development (GO:2001012)5.18147124
7mesenchymal cell differentiation involved in kidney development (GO:0072161)5.18147124
8hemidesmosome assembly (GO:0031581)5.08411908
9chondrocyte proliferation (GO:0035988)4.96413623
10embryonic skeletal joint morphogenesis (GO:0060272)4.72750210
11* organ induction (GO:0001759)4.65209255
12* mesenchymal to epithelial transition (GO:0060231)4.50460770
13glomerular basement membrane development (GO:0032836)4.37371439
14outer ear morphogenesis (GO:0042473)4.33783182
15axon extension involved in axon guidance (GO:0048846)4.29310131
16neuron projection extension involved in neuron projection guidance (GO:1902284)4.29310131
17collagen fibril organization (GO:0030199)4.10334179
18middle ear morphogenesis (GO:0042474)3.89118987
19mesenchymal-epithelial cell signaling (GO:0060638)3.88786951
20skin morphogenesis (GO:0043589)3.79360491
21paraxial mesoderm development (GO:0048339)3.78527713
22protein heterotrimerization (GO:0070208)3.71467963
23basement membrane organization (GO:0071711)3.69335726
24* metanephros development (GO:0001656)3.67678196
25negative regulation of chondrocyte differentiation (GO:0032331)3.67488967
26muscle cell fate commitment (GO:0042693)3.65837322
27cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.64641173
28regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.61216136
29embryonic camera-type eye development (GO:0031076)3.58118267
30endodermal cell differentiation (GO:0035987)3.55545708
31hippo signaling (GO:0035329)3.52169873
32embryonic cranial skeleton morphogenesis (GO:0048701)3.51234764
33planar cell polarity pathway involved in neural tube closure (GO:0090179)3.49885204
34negative regulation of fatty acid transport (GO:2000192)3.47585325
35axis elongation (GO:0003401)3.46825110
36endocardial cushion development (GO:0003197)3.41249931
37regulation of skeletal muscle contraction (GO:0014819)3.40907682
38cell adhesion mediated by integrin (GO:0033627)3.40687794
39mesonephros development (GO:0001823)3.40296202
40G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.36910014
41behavioral response to nicotine (GO:0035095)3.36579997
42* regulation of organ formation (GO:0003156)3.35105427
43regulation of nephron tubule epithelial cell differentiation (GO:0072182)3.34962982
44regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.31639129
45gamma-aminobutyric acid transport (GO:0015812)3.29778917
46negative regulation of axon extension involved in axon guidance (GO:0048843)3.29519324
47dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.25232860
48response to pheromone (GO:0019236)3.25121442
49sequestering of extracellular ligand from receptor (GO:0035581)3.24282532
50regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.22726027
51regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.19507083
52surfactant homeostasis (GO:0043129)3.19037545
53mesenchymal cell differentiation (GO:0048762)3.18378401
54positive regulation of cartilage development (GO:0061036)3.17507291
55polarized epithelial cell differentiation (GO:0030859)3.16787672
56gonadal mesoderm development (GO:0007506)3.12052829
57regulation of hippo signaling (GO:0035330)3.11804372
58cell-substrate junction assembly (GO:0007044)3.11627057
59mesodermal cell differentiation (GO:0048333)3.11266332
60cellular response to ATP (GO:0071318)3.11143269
61* developmental induction (GO:0031128)3.10773930
62response to muscle activity (GO:0014850)3.08683489
63mesonephric tubule development (GO:0072164)3.08605255
64embryonic viscerocranium morphogenesis (GO:0048703)3.07877996
65bone trabecula formation (GO:0060346)3.07276033
66mesenchyme development (GO:0060485)3.07169921
67positive regulation of fatty acid oxidation (GO:0046321)3.06214766
68cochlea morphogenesis (GO:0090103)3.05432725
69embryonic skeletal system morphogenesis (GO:0048704)3.05184641
70regulation of gonadotropin secretion (GO:0032276)3.04799448
71indolalkylamine metabolic process (GO:0006586)3.04441905
72neural crest cell development (GO:0014032)3.02809159
73* cell-cell signaling involved in cell fate commitment (GO:0045168)3.01555956
74mesonephric epithelium development (GO:0072163)3.00425165
75craniofacial suture morphogenesis (GO:0097094)2.98182412
76positive regulation of male gonad development (GO:2000020)2.97871153
77branch elongation of an epithelium (GO:0060602)2.97654637
78glomerular visceral epithelial cell development (GO:0072015)2.95712358
79kynurenine metabolic process (GO:0070189)2.95282454
80regulation of chondrocyte differentiation (GO:0032330)2.95171544
81negative regulation of cartilage development (GO:0061037)2.95106684
82lymphangiogenesis (GO:0001946)2.92051877
83embryonic forelimb morphogenesis (GO:0035115)2.92018088
84lung vasculature development (GO:0060426)2.90594966
85* regulation of mesonephros development (GO:0061217)2.90307169
86forelimb morphogenesis (GO:0035136)2.89554846
87regulation of cartilage development (GO:0061035)2.88788048
88wound healing, spreading of epidermal cells (GO:0035313)2.87509896
89collagen metabolic process (GO:0032963)2.86179936
90lateral sprouting from an epithelium (GO:0060601)2.85228378
91anterior/posterior axis specification, embryo (GO:0008595)2.84754788
92midgut development (GO:0007494)2.84100917
93regulation of axon extension involved in axon guidance (GO:0048841)2.83889129
94lung-associated mesenchyme development (GO:0060484)2.83210645
95regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.82978667
96myotube cell development (GO:0014904)2.82701296
97ureteric bud development (GO:0001657)2.82435019
98plasma membrane repair (GO:0001778)2.81360563
99platelet dense granule organization (GO:0060155)2.81130014
100negative regulation of axon guidance (GO:1902668)2.80686436
101regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.80608661
102regulation of heart morphogenesis (GO:2000826)2.80149918
103metanephric epithelium development (GO:0072207)2.79425165
104positive regulation of mesenchymal cell proliferation (GO:0002053)2.78904513
105* branching involved in ureteric bud morphogenesis (GO:0001658)2.77660466
106positive regulation of chondrocyte differentiation (GO:0032332)2.77557538
107G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.76600193
108branching involved in salivary gland morphogenesis (GO:0060445)2.76537070
109primary amino compound metabolic process (GO:1901160)2.76424337
110collecting duct development (GO:0072044)2.75641587
111sulfation (GO:0051923)2.75202590
112serotonin metabolic process (GO:0042428)2.74904912
113regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.74889524
114collagen catabolic process (GO:0030574)2.74529673
115response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.74322994
116negative regulation of catenin import into nucleus (GO:0035414)2.73531266
117* regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.73075527
118semaphorin-plexin signaling pathway (GO:0071526)2.72694875
119glomerulus development (GO:0032835)2.72349404
120multicellular organismal macromolecule metabolic process (GO:0044259)2.72029513
121skeletal muscle fiber development (GO:0048741)2.71819213
122positive regulation of protein autophosphorylation (GO:0031954)2.71698783
123actin-mediated cell contraction (GO:0070252)2.69743264
124muscle filament sliding (GO:0030049)2.69740188
125actin-myosin filament sliding (GO:0033275)2.69740188
126cellular response to vitamin (GO:0071295)2.68799202
127protein K6-linked ubiquitination (GO:0085020)2.68687854
128tryptophan catabolic process (GO:0006569)2.68432461
129indole-containing compound catabolic process (GO:0042436)2.68432461
130indolalkylamine catabolic process (GO:0046218)2.68432461
131protein polyglutamylation (GO:0018095)2.67195004
132cornea development in camera-type eye (GO:0061303)2.65069938
133response to inactivity (GO:0014854)2.61220022
134positive regulation of mitochondrial fission (GO:0090141)2.60837540
135detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.58944607
136neuronal action potential propagation (GO:0019227)2.57357859
137negative chemotaxis (GO:0050919)2.56716760
138piRNA metabolic process (GO:0034587)2.53949325
139positive regulation of meiosis (GO:0045836)2.53041541
140retinal cone cell development (GO:0046549)2.51655258
141inner ear receptor stereocilium organization (GO:0060122)2.50931460
142response to gravity (GO:0009629)2.49972958
143negative regulation of systemic arterial blood pressure (GO:0003085)2.49307221
144indole-containing compound metabolic process (GO:0042430)2.48954785
145positive regulation of cardiac muscle cell differentiation (GO:2000727)2.47830781
146detection of light stimulus involved in sensory perception (GO:0050962)2.47285941
147detection of light stimulus involved in visual perception (GO:0050908)2.47285941
148reflex (GO:0060004)2.46607676
149detection of mechanical stimulus involved in sensory perception (GO:0050974)2.46512791
150regulation of plasminogen activation (GO:0010755)2.46222899
151somite development (GO:0061053)2.45758885
152regulation of sarcomere organization (GO:0060297)2.43567396
153tryptophan metabolic process (GO:0006568)2.42462466
154positive regulation of astrocyte differentiation (GO:0048711)2.40898041
155regulation of DNA endoreduplication (GO:0032875)2.40837837
156negative regulation of synaptic transmission, GABAergic (GO:0032229)2.39260180
157dermatan sulfate biosynthetic process (GO:0030208)2.37995280
158purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.37932800
1593-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.37932800
160acrosome reaction (GO:0007340)2.34685268
161tooth mineralization (GO:0034505)2.33656325
162positive regulation of fatty acid beta-oxidation (GO:0032000)2.33533552
163positive regulation of meiotic cell cycle (GO:0051446)2.33025036
164negative regulation of protein localization to cell surface (GO:2000009)2.29066106
165UDP-N-acetylglucosamine metabolic process (GO:0006047)2.28789340
166behavioral response to ethanol (GO:0048149)2.28166935
167regulation of hexokinase activity (GO:1903299)2.27840178
168regulation of glucokinase activity (GO:0033131)2.27840178
169cellular response to sterol (GO:0036315)2.26999639
170pericardium development (GO:0060039)2.26909725
171regulation of type B pancreatic cell apoptotic process (GO:2000674)2.26542392
172negative regulation of nitric-oxide synthase activity (GO:0051001)2.25723157
173righting reflex (GO:0060013)2.25681975
174endosome to melanosome transport (GO:0035646)2.25422610
175endosome to pigment granule transport (GO:0043485)2.25422610
176regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.24816120
177regulation of action potential (GO:0098900)2.19801498
178neuronal action potential (GO:0019228)2.19036618
179positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.17844595
180DNA methylation involved in gamete generation (GO:0043046)2.17674051
181myofibril assembly (GO:0030239)2.15883363
182cell proliferation in forebrain (GO:0021846)2.15126271
183cellular response to vitamin D (GO:0071305)2.14947172
184proline transport (GO:0015824)2.14413817
185cell migration involved in sprouting angiogenesis (GO:0002042)2.13717690

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.06586657
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.79355569
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.69750073
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.58840974
5GBX2_23144817_ChIP-Seq_PC3_Human3.41403378
6ZNF274_21170338_ChIP-Seq_K562_Hela2.92384684
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.80065248
8STAT6_21828071_ChIP-Seq_BEAS2B_Human2.76263594
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.72436889
10* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.65849142
11VDR_22108803_ChIP-Seq_LS180_Human2.57349662
12WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.51098686
13EZH2_22144423_ChIP-Seq_EOC_Human2.46999204
14CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.45132656
15SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.43988847
16CLOCK_20551151_ChIP-Seq_293T_Human2.40486420
17RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.36788575
18HIF1A_21447827_ChIP-Seq_MCF-7_Human2.32555055
19PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.25408883
20WT1_19549856_ChIP-ChIP_CCG9911_Human2.25329549
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22130325
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.21279478
23TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.20379649
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.19869808
25EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.15403565
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.11750728
27PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.09762418
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08640583
29POU3F2_20337985_ChIP-ChIP_501MEL_Human2.04602871
30RBPJ_22232070_ChIP-Seq_NCS_Mouse2.02682935
31SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.02508151
32SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.02508151
33* P300_19829295_ChIP-Seq_ESCs_Human1.98270009
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.97510395
35* EED_16625203_ChIP-ChIP_MESCs_Mouse1.96927182
36* TP53_20018659_ChIP-ChIP_R1E_Mouse1.96588401
37RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.95952673
38PCGF2_27294783_Chip-Seq_ESCs_Mouse1.93569971
39CJUN_26792858_Chip-Seq_BT549_Human1.93417276
40FUS_26573619_Chip-Seq_HEK293_Human1.91709742
41ESR1_21235772_ChIP-Seq_MCF-7_Human1.90397164
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.86740690
43IGF1R_20145208_ChIP-Seq_DFB_Human1.84087177
44* BRD4_25478319_ChIP-Seq_HGPS_Human1.81840395
45* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.81204923
46* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.81204923
47* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.80084109
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.79030233
49ER_23166858_ChIP-Seq_MCF-7_Human1.78342872
50NR3C1_21868756_ChIP-Seq_MCF10A_Human1.77926143
51CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.76257689
52* CBX2_27304074_Chip-Seq_ESCs_Mouse1.75152366
53GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73035890
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.72853184
55P300_27058665_Chip-Seq_ZR-75-30cells_Human1.70261626
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.69734287
57ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.69431833
58SALL1_21062744_ChIP-ChIP_HESCs_Human1.69347940
59PCGF2_27294783_Chip-Seq_NPCs_Mouse1.68623049
60SMAD4_21799915_ChIP-Seq_A2780_Human1.68188138
61SOX9_24532713_ChIP-Seq_HFSC_Mouse1.67855502
62UBF1/2_26484160_Chip-Seq_HMECs_Human1.65793831
63EZH2_27294783_Chip-Seq_NPCs_Mouse1.64439410
64CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64130897
65* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.63731433
66EP300_21415370_ChIP-Seq_HL-1_Mouse1.62130381
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.61537498
68SMAD_19615063_ChIP-ChIP_OVARY_Human1.60846038
69KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.56160074
70STAT3_23295773_ChIP-Seq_U87_Human1.54752020
71HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.54420009
72ZFP281_18757296_ChIP-ChIP_E14_Mouse1.54288999
73* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53695218
74SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52185217
75ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.51991746
76* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.51357683
77TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.50002306
78* RACK7_27058665_Chip-Seq_MCF-7_Human1.49854946
79BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.49564886
80DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.49383951
81* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.49051309
82KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.46733431
83PPAR_26484153_Chip-Seq_NCI-H1993_Human1.46221931
84EWS_26573619_Chip-Seq_HEK293_Human1.45712189
85TOP2B_26459242_ChIP-Seq_MCF-7_Human1.45018223
86* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.44776483
87NFE2_27457419_Chip-Seq_LIVER_Mouse1.44751345
88* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.43780091
89KDM2B_26808549_Chip-Seq_K562_Human1.43470692
90TCF4_18268006_ChIP-ChIP_LS174T_Human1.43426971
91SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42132586
92UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.41593909
93SMAD3_21741376_ChIP-Seq_EPCs_Human1.40652419
94AR_21572438_ChIP-Seq_LNCaP_Human1.40506578
95HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.40081247
96* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.39078396
97* EZH2_27304074_Chip-Seq_ESCs_Mouse1.38522412
98TCF4_23295773_ChIP-Seq_U87_Human1.38339434
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.38242542
100CRX_20693478_ChIP-Seq_RETINA_Mouse1.37619214
101ATF3_27146783_Chip-Seq_COLON_Human1.37357079
102CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.36356686
103* TP53_22127205_ChIP-Seq_IMR90_Human1.35909952
104CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35884561
105* ISL1_27105846_Chip-Seq_CPCs_Mouse1.35667368
106AR_25329375_ChIP-Seq_VCAP_Human1.35582480
107MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.35208686
108KDM2B_26808549_Chip-Seq_SUP-B15_Human1.34405618
109* BCAT_22108803_ChIP-Seq_LS180_Human1.34323591
110IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.33444674
111CBP_20019798_ChIP-Seq_JUKART_Human1.33444674
112SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.32754580
113ESR2_21235772_ChIP-Seq_MCF-7_Human1.32592399
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32523611
115TAF15_26573619_Chip-Seq_HEK293_Human1.32120213
116* RING1B_27294783_Chip-Seq_NPCs_Mouse1.31961047
117* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.31873693
118TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30099073
119EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.28628021
120SMAD4_21741376_ChIP-Seq_EPCs_Human1.27900576
121ESR1_20079471_ChIP-ChIP_T-47D_Human1.27865908
122EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.27279747
123* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.27189789
124* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26279120
125AR_21909140_ChIP-Seq_LNCAP_Human1.25924615
126ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.23691094
127RNF2_27304074_Chip-Seq_NSC_Mouse1.23313634
128EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.22710832
129NANOG_18555785_Chip-Seq_ESCs_Mouse1.22076397
130TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21709162
131ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.21037437
132FLI1_21867929_ChIP-Seq_TH2_Mouse1.20858768
133TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.20637018
134SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.19868269
135RXR_22108803_ChIP-Seq_LS180_Human1.19576025
136JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.19355427
137* RNF2_27304074_Chip-Seq_ESCs_Mouse1.18797162
138* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18673499
139* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.18118548
140CDX2_22108803_ChIP-Seq_LS180_Human1.17190568
141* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.17116113
142SMC1_22415368_ChIP-Seq_MEFs_Mouse1.16934780
143SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16901812
144FOXO3_23340844_ChIP-Seq_DLD1_Human1.16435503
145ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16015287
146AUTS2_25519132_ChIP-Seq_293T-REX_Human1.15993119
147KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15660931
148* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14725505
149SALL4_18804426_ChIP-ChIP_XEN_Mouse1.14443674
150OCT4_21477851_ChIP-Seq_ESCs_Mouse1.13907908
151RUNX2_22187159_ChIP-Seq_PCA_Human1.13555511
152ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.13175218
153* TP53_18474530_ChIP-ChIP_U2OS_Human1.12614894
154KDM2B_26808549_Chip-Seq_REH_Human1.12405708
155NFIB_24661679_ChIP-Seq_LUNG_Mouse1.12243390
156CDX2_20551321_ChIP-Seq_CACO-2_Human1.12055802
157* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.11265278
158ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.10596730
159P53_22387025_ChIP-Seq_ESCs_Mouse1.09482363
160JUN_21703547_ChIP-Seq_K562_Human1.08342199
161KDM2B_26808549_Chip-Seq_JURKAT_Human1.08115901
162P63_26484246_Chip-Seq_KERATINOCYTES_Human1.06714312
163* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.06627911
164SOX2_21211035_ChIP-Seq_LN229_Gbm1.06523234
165NANOG_19829295_ChIP-Seq_ESCs_Human1.06270145
166KDM2B_26808549_Chip-Seq_DND41_Human1.03844680
167NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.02928594
168* RING1B_27294783_Chip-Seq_ESCs_Mouse1.02618567
169* TP53_16413492_ChIP-PET_HCT116_Human1.02589025
170NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.02505579
171SOX2_20726797_ChIP-Seq_SW620_Human1.02346825
172RUNX1_27514584_Chip-Seq_MCF-7_Human1.02333907
173JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01884406
174ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00893651
175* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.00274390
176* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.00274390
177HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.99742612
178* TBX20_22328084_ChIP-Seq_HEART_Mouse0.99186199

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.00909800
2MP0003646_muscle_fatigue3.91849873
3MP0005171_absent_coat_pigmentation3.80382470
4MP0003705_abnormal_hypodermis_morpholog3.72882551
5MP0010030_abnormal_orbit_morphology3.61075103
6MP0005623_abnormal_meninges_morphology3.34578897
7MP0005503_abnormal_tendon_morphology3.31907010
8MP0005275_abnormal_skin_tensile3.26314026
9MP0004145_abnormal_muscle_electrophysio3.04292339
10* MP0003942_abnormal_urinary_system3.03878098
11MP0004272_abnormal_basement_membrane2.99287372
12MP0003950_abnormal_plasma_membrane2.62947724
13MP0001958_emphysema2.62560085
14MP0000372_irregular_coat_pigmentation2.62523009
15MP0002837_dystrophic_cardiac_calcinosis2.52349502
16MP0000749_muscle_degeneration2.43423693
17* MP0000534_abnormal_ureter_morphology2.38704678
18MP0010352_gastrointestinal_tract_polyps2.31203936
19MP0003385_abnormal_body_wall2.28420590
20MP0009053_abnormal_anal_canal2.25099756
21MP0009250_abnormal_appendicular_skeleto2.23743403
22MP0003279_aneurysm2.22859522
23MP0000569_abnormal_digit_pigmentation2.22083916
24MP0002102_abnormal_ear_morphology2.09906256
25MP0009384_cardiac_valve_regurgitation2.06677340
26MP0003283_abnormal_digestive_organ2.05213077
27MP0002938_white_spotting1.97078264
28MP0000733_abnormal_muscle_development1.96890676
29MP0002060_abnormal_skin_morphology1.95736531
30MP0003136_yellow_coat_color1.85082796
31MP0005508_abnormal_skeleton_morphology1.83010704
32MP0005023_abnormal_wound_healing1.82373344
33MP0004036_abnormal_muscle_relaxation1.76733445
34MP0009780_abnormal_chondrocyte_physiolo1.75092387
35MP0010368_abnormal_lymphatic_system1.74583953
36MP0000537_abnormal_urethra_morphology1.72962311
37MP0000013_abnormal_adipose_tissue1.68089671
38MP0003941_abnormal_skin_development1.67891943
39MP0003115_abnormal_respiratory_system1.65540145
40MP0002932_abnormal_joint_morphology1.59303889
41MP0000750_abnormal_muscle_regeneration1.57926862
42MP0002249_abnormal_larynx_morphology1.56927524
43MP0003123_paternal_imprinting1.56120559
44MP0004084_abnormal_cardiac_muscle1.51556005
45MP0002282_abnormal_trachea_morphology1.49489706
46MP0004233_abnormal_muscle_weight1.47917989
47MP0003566_abnormal_cell_adhesion1.47167203
48MP0003195_calcinosis1.46082040
49MP0000428_abnormal_craniofacial_morphol1.44212792
50MP0002108_abnormal_muscle_morphology1.41438444
51MP0008004_abnormal_stomach_pH1.38593630
52MP0001299_abnormal_eye_distance/1.38412137
53MP0005551_abnormal_eye_electrophysiolog1.37883854
54MP0005620_abnormal_muscle_contractility1.37816081
55MP0005369_muscle_phenotype1.36825141
56MP0000383_abnormal_hair_follicle1.34964725
57MP0003091_abnormal_cell_migration1.34196077
58MP0001346_abnormal_lacrimal_gland1.33879525
59MP0003755_abnormal_palate_morphology1.32654595
60MP0005076_abnormal_cell_differentiation1.32203035
61MP0002106_abnormal_muscle_physiology1.31269319
62MP0000566_synostosis1.30630496
63MP0003937_abnormal_limbs/digits/tail_de1.29666146
64MP0005257_abnormal_intraocular_pressure1.29625506
65MP0004142_abnormal_muscle_tone1.29566697
66MP0005646_abnormal_pituitary_gland1.28348215
67MP0002234_abnormal_pharynx_morphology1.27708294
68MP0000762_abnormal_tongue_morphology1.26654882
69MP0000015_abnormal_ear_pigmentation1.26210491
70MP0002876_abnormal_thyroid_physiology1.25896021
71MP0005670_abnormal_white_adipose1.25159670
72MP0004782_abnormal_surfactant_physiolog1.22833819
73MP0002896_abnormal_bone_mineralization1.22814361
74MP0001177_atelectasis1.21635050
75MP0003045_fibrosis1.21317549
76MP0002295_abnormal_pulmonary_circulatio1.19492263
77MP0002233_abnormal_nose_morphology1.19456476
78MP0002160_abnormal_reproductive_system1.18796218
79MP0008775_abnormal_heart_ventricle1.18043866
80MP0001879_abnormal_lymphatic_vessel1.17981336
81MP0000049_abnormal_middle_ear1.17220709
82MP0001501_abnormal_sleep_pattern1.16676769
83MP0006054_spinal_hemorrhage1.16399110
84MP0000767_abnormal_smooth_muscle1.15701830
85MP0009046_muscle_twitch1.12257608
86MP0002109_abnormal_limb_morphology1.11340333
87MP0003938_abnormal_ear_development1.10909280
88MP0004133_heterotaxia1.09899194
89MP0000427_abnormal_hair_cycle1.09622861
90MP0002115_abnormal_skeleton_extremities1.08447641
91MP0003935_abnormal_craniofacial_develop1.08244638
92MP0001340_abnormal_eyelid_morphology1.07937863
93MP0005174_abnormal_tail_pigmentation1.07919200
94MP0001968_abnormal_touch/_nociception1.07384741
95MP0010678_abnormal_skin_adnexa1.05959647
96MP0001243_abnormal_dermal_layer1.05163363
97MP0002111_abnormal_tail_morphology1.04873252
98MP0000432_abnormal_head_morphology1.04856075
99MP0001542_abnormal_bone_strength1.04558831
100MP0000163_abnormal_cartilage_morphology1.03382166
101MP0002269_muscular_atrophy1.03233087
102MP0004043_abnormal_pH_regulation1.00339081
103MP0002114_abnormal_axial_skeleton0.98442190
104MP0002736_abnormal_nociception_after0.98023883
105MP0004130_abnormal_muscle_cell0.97134445
106MP0002254_reproductive_system_inflammat0.97021447
107MP0002168_other_aberrant_phenotype0.96979775
108MP0006276_abnormal_autonomic_nervous0.96846877
109MP0003453_abnormal_keratinocyte_physiol0.96227642
110MP0004885_abnormal_endolymph0.95830328
111MP0010234_abnormal_vibrissa_follicle0.94643407
112MP0003011_delayed_dark_adaptation0.94114494
113MP0004197_abnormal_fetal_growth/weight/0.92696283
114MP0002116_abnormal_craniofacial_bone0.92638708
115MP0009745_abnormal_behavioral_response0.90688591
116MP0004134_abnormal_chest_morphology0.90049011
117MP0002272_abnormal_nervous_system0.89717140
118MP0005388_respiratory_system_phenotype0.89696552
119MP0002133_abnormal_respiratory_system0.89696552
120MP0000467_abnormal_esophagus_morphology0.89049638
121MP0005360_urolithiasis0.88695336
122MP0005253_abnormal_eye_physiology0.88389562
123MP0006292_abnormal_olfactory_placode0.87254538
124MP0005408_hypopigmentation0.87170230
125MP0002877_abnormal_melanocyte_morpholog0.87125786
126MP0005248_abnormal_Harderian_gland0.86618573
127MP0004484_altered_response_of0.85298637
128MP0003122_maternal_imprinting0.85146508
129MP0005075_abnormal_melanosome_morpholog0.84870071
130MP0008007_abnormal_cellular_replicative0.84638705
131* MP0002751_abnormal_autonomic_nervous0.84129791
132MP0002113_abnormal_skeleton_development0.83007273
133MP0001849_ear_inflammation0.82320167
134* MP0000759_abnormal_skeletal_muscle0.82302125
135MP0002697_abnormal_eye_size0.81624063
136MP0003119_abnormal_digestive_system0.81472258
137MP0002092_abnormal_eye_morphology0.81457595
138MP0005187_abnormal_penis_morphology0.81275941
139MP0002796_impaired_skin_barrier0.80849102
140MP0008995_early_reproductive_senescence0.79415291
141MP0002925_abnormal_cardiovascular_devel0.79174349
142MP0002128_abnormal_blood_circulation0.77512527
143MP0004215_abnormal_myocardial_fiber0.77388315
144MP0010771_integument_phenotype0.77310433
145MP0000751_myopathy0.77181137
146MP0004087_abnormal_muscle_fiber0.76977738
147MP0002653_abnormal_ependyma_morphology0.76641073
148MP0000747_muscle_weakness0.76430233
149MP0009278_abnormal_bone_marrow0.75093320
150MP0000631_abnormal_neuroendocrine_gland0.75036296
151MP0005390_skeleton_phenotype0.74791673
152MP0002734_abnormal_mechanical_nocicepti0.74620756
153MP0006072_abnormal_retinal_apoptosis0.74522681
154MP0001175_abnormal_lung_morphology0.74465800
155MP0009379_abnormal_foot_pigmentation0.74180799
156MP0003936_abnormal_reproductive_system0.73951717
157MP0005197_abnormal_uvea_morphology0.73793589
158MP0002332_abnormal_exercise_endurance0.73726139
159MP0000647_abnormal_sebaceous_gland0.73692484
160MP0002733_abnormal_thermal_nociception0.72499692
161MP0002095_abnormal_skin_pigmentation0.72293333
162MP0002085_abnormal_embryonic_tissue0.71974103
163MP0001485_abnormal_pinna_reflex0.71363436
164MP0008872_abnormal_physiological_respon0.70534273
165MP0004858_abnormal_nervous_system0.70493658

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.42296835
2Premature rupture of membranes (HP:0001788)5.95283243
3Shallow orbits (HP:0000586)4.42267251
4Muscle fiber inclusion bodies (HP:0100299)4.35831064
5Nemaline bodies (HP:0003798)4.28960413
6Atrophic scars (HP:0001075)4.23562254
7Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.21327051
8Ankle contracture (HP:0006466)4.06639260
9Broad metatarsal (HP:0001783)4.00583121
10Soft skin (HP:0000977)3.65345793
11Pancreatic fibrosis (HP:0100732)3.28877539
12Ulnar bowing (HP:0003031)3.27897788
13Slender build (HP:0001533)3.25550444
14Fragile skin (HP:0001030)3.20149453
15Abnormality of dentin (HP:0010299)3.18785001
16Distal arthrogryposis (HP:0005684)3.18614102
17Aortic dissection (HP:0002647)3.14952294
18Abnormality of midbrain morphology (HP:0002418)3.11331545
19Molar tooth sign on MRI (HP:0002419)3.11331545
20Increased corneal curvature (HP:0100692)3.05063035
21Keratoconus (HP:0000563)3.05063035
22Absent phalangeal crease (HP:0006109)3.04501331
23Pancreatic cysts (HP:0001737)3.04448744
24Cerebral aneurysm (HP:0004944)2.99844529
25Peritonitis (HP:0002586)2.84527267
26True hermaphroditism (HP:0010459)2.82144844
27Aortic aneurysm (HP:0004942)2.80073066
28Coronal craniosynostosis (HP:0004440)2.79859716
29Bladder diverticulum (HP:0000015)2.79479900
30Distal lower limb amyotrophy (HP:0008944)2.78644697
31Congenital stationary night blindness (HP:0007642)2.78191483
32Dilatation of the ascending aorta (HP:0005111)2.76601676
33Genetic anticipation (HP:0003743)2.75876632
34Increased connective tissue (HP:0009025)2.75681465
35Mildly elevated creatine phosphokinase (HP:0008180)2.72014261
36Wrist flexion contracture (HP:0001239)2.69091831
37Wormian bones (HP:0002645)2.68103015
38Spinal rigidity (HP:0003306)2.66280748
39Muscle hypertrophy of the lower extremities (HP:0008968)2.65235042
40Vertebral compression fractures (HP:0002953)2.63009985
41Neonatal short-limb short stature (HP:0008921)2.59311594
42Congenital sensorineural hearing impairment (HP:0008527)2.58303123
43Nephronophthisis (HP:0000090)2.55804046
44Calf muscle hypertrophy (HP:0008981)2.50664162
45Abnormal finger flexion creases (HP:0006143)2.50217836
46Difficulty climbing stairs (HP:0003551)2.49661437
47Type 1 muscle fiber predominance (HP:0003803)2.48967385
48Spinal cord lesions (HP:0100561)2.48724597
49Syringomyelia (HP:0003396)2.48724597
50Exercise-induced muscle cramps (HP:0003710)2.46388098
51Overgrowth (HP:0001548)2.40219087
52Delayed gross motor development (HP:0002194)2.37564634
53Type II lissencephaly (HP:0007260)2.37289709
54Genu recurvatum (HP:0002816)2.36080035
55Calcaneovalgus deformity (HP:0001848)2.35725983
56Gaze-evoked nystagmus (HP:0000640)2.34504872
57Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.31979193
58Short 4th metacarpal (HP:0010044)2.31979193
59Pterygium (HP:0001059)2.31917854
60Bowed forearm bones (HP:0003956)2.31575976
61Bowing of the arm (HP:0006488)2.31575976
62Aplasia involving bones of the extremities (HP:0009825)2.31055719
63Aplasia involving bones of the upper limbs (HP:0009823)2.31055719
64Aplasia of the phalanges of the hand (HP:0009802)2.31055719
65Short 1st metacarpal (HP:0010034)2.30204811
66Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.30204811
67Mitral valve prolapse (HP:0001634)2.30155761
68Abnormality of the calcaneus (HP:0008364)2.28858883
69Abnormality of the calf musculature (HP:0001430)2.27583220
70Blue sclerae (HP:0000592)2.26699370
71Mesangial abnormality (HP:0001966)2.25616649
72Hypoplasia of the iris (HP:0007676)2.22628723
73Osteolytic defects of the hand bones (HP:0009699)2.22230706
74Osteolytic defects of the phalanges of the hand (HP:0009771)2.22230706
75Hip contracture (HP:0003273)2.21225305
76Radial bowing (HP:0002986)2.19795538
77Abnormality of the renal cortex (HP:0011035)2.19091623
78Mesomelia (HP:0003027)2.19064327
79Hyperextensible skin (HP:0000974)2.18414457
80Decreased subcutaneous fat (HP:0001002)2.17400289
81Interstitial pulmonary disease (HP:0006530)2.15618489
82Aplasia/Hypoplasia of the tongue (HP:0010295)2.15325009
83Lower limb amyotrophy (HP:0007210)2.15091758
84Albinism (HP:0001022)2.14270356
85Progressive cerebellar ataxia (HP:0002073)2.14233132
86Abnormality of the renal medulla (HP:0100957)2.14169282
87Deformed tarsal bones (HP:0008119)2.14164410
88Ulnar deviation of the wrist (HP:0003049)2.13792383
89Milia (HP:0001056)2.12900025
90Camptodactyly of toe (HP:0001836)2.11201969
91Pendular nystagmus (HP:0012043)2.10491110
92Hypoplasia of the fovea (HP:0007750)2.10122931
93Aplasia/Hypoplasia of the fovea (HP:0008060)2.10122931
94Cervical subluxation (HP:0003308)2.09786514
95Renal duplication (HP:0000075)2.09577603
96Deviation of the hallux (HP:0010051)2.08525069
97Abnormality of the acetabulum (HP:0003170)2.06579611
98Increased density of long bones (HP:0006392)2.05623486
99Biconcave vertebral bodies (HP:0004586)2.03608522
100Abnormality of the middle phalanges of the toes (HP:0010183)2.02312666
101Turricephaly (HP:0000262)2.01496679
102Cystic liver disease (HP:0006706)2.00238761
103Elbow flexion contracture (HP:0002987)2.00021659
104Abnormality of the peritoneum (HP:0002585)1.99832264
105Sclerocornea (HP:0000647)1.98192381
106Bronchomalacia (HP:0002780)1.98056942
107Limited hip movement (HP:0008800)1.97399695
108Buphthalmos (HP:0000557)1.96919686
109Chronic hepatic failure (HP:0100626)1.96692785
110Short nail (HP:0001799)1.96627107
111Asymmetry of the thorax (HP:0001555)1.95638483
112Focal segmental glomerulosclerosis (HP:0000097)1.95536272
113Hypoplastic ischia (HP:0003175)1.95326030
114Thin bony cortex (HP:0002753)1.94939163
115Selective tooth agenesis (HP:0001592)1.94367288
116Chorioretinal atrophy (HP:0000533)1.94278760
117Hallux valgus (HP:0001822)1.94102911
118Hemiparesis (HP:0001269)1.93577084
119Morphological abnormality of the middle ear (HP:0008609)1.92077233
120Scapular winging (HP:0003691)1.91472539
121Neonatal respiratory distress (HP:0002643)1.90666006
122Vascular tortuosity (HP:0004948)1.90256742
123Small hand (HP:0200055)1.90092506
124Bowel diverticulosis (HP:0005222)1.89907232
125Exercise-induced myalgia (HP:0003738)1.89586015
126Aplasia of the musculature (HP:0100854)1.89380864
127Mitral regurgitation (HP:0001653)1.88971441
128Broad long bones (HP:0005622)1.88226941
129Abnormality of the 1st metacarpal (HP:0010009)1.87703089
130Hyperventilation (HP:0002883)1.86181913
131Broad thumb (HP:0011304)1.86011529
132Upper limb amyotrophy (HP:0009129)1.84600547
133Distal upper limb amyotrophy (HP:0007149)1.84600547
134Broad toe (HP:0001837)1.84481496
135Arterial tortuosity (HP:0005116)1.83724459
136Wide anterior fontanel (HP:0000260)1.83310704
137Follicular hyperkeratosis (HP:0007502)1.82539265
138Arnold-Chiari malformation (HP:0002308)1.82291304
139Intestinal atresia (HP:0011100)1.81445914
140Natal tooth (HP:0000695)1.81156862
141Hydroxyprolinuria (HP:0003080)1.79959845
142Abnormality of proline metabolism (HP:0010907)1.79959845
143Rectal prolapse (HP:0002035)1.79503802
144Disproportionate short-trunk short stature (HP:0003521)1.79349650
145Progressive inability to walk (HP:0002505)1.78601989
146Aplasia/Hypoplasia of the tibia (HP:0005772)1.78458706
147Facial diplegia (HP:0001349)1.78215747
148Delayed cranial suture closure (HP:0000270)1.78133195
149Bell-shaped thorax (HP:0001591)1.78124833
150Round ear (HP:0100830)1.77002666
151Protruding ear (HP:0000411)1.76828817
152Severe muscular hypotonia (HP:0006829)1.75891615
153Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.74957069
154Femoral bowing (HP:0002980)1.74584021
155Joint contractures involving the joints of the feet (HP:0100492)1.74359260
156Flexion contracture of toe (HP:0005830)1.74359260
157Down-sloping shoulders (HP:0200021)1.73831568
158Anencephaly (HP:0002323)1.73535259
159Medial flaring of the eyebrow (HP:0010747)1.73137651
160Tubular atrophy (HP:0000092)1.72035459
161Myotonia (HP:0002486)1.71850157
162Inability to walk (HP:0002540)1.71725881
163Hypoplastic iliac wings (HP:0002866)1.70949674
164Hypoplasia of the odontoid process (HP:0003311)1.70656405
165Severe visual impairment (HP:0001141)1.70432829
166Broad hallux (HP:0010055)1.70287864
167Abnormality of the nasal septum (HP:0000419)1.69862931
168Broad phalanx (HP:0006009)1.68608507
169Redundant skin (HP:0001582)1.68355217
170Joint laxity (HP:0001388)1.67427816
171Synostosis involving bones of the feet (HP:0009140)1.67224576
172Synostosis involving bones of the lower limbs (HP:0009138)1.67224576
173Aneurysm (HP:0002617)1.66970159
174Renal cortical cysts (HP:0000803)1.66744440
175Hypothermia (HP:0002045)1.66321382
176Tarsal synostosis (HP:0008368)1.64790870
177Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.64046612
178Abnormality of subcutaneous fat tissue (HP:0001001)1.63740769
179Abnormality of the phalanges of the 2nd finger (HP:0009541)1.63088782
180Short hallux (HP:0010109)1.62388347
181Abnormal rod and cone electroretinograms (HP:0008323)1.62322241
182Congenital hepatic fibrosis (HP:0002612)1.61740317
183Anterior segment dysgenesis (HP:0007700)1.60676612
184Cerebellar dysplasia (HP:0007033)1.60611257
185Increased variability in muscle fiber diameter (HP:0003557)1.59814289
186Dialeptic seizures (HP:0011146)1.59216874

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.19940041
2TRIB34.71755688
3LATS13.89346718
4OBSCN3.84845950
5TTN3.59541712
6DDR22.97782355
7PDGFRA2.70982282
8GRK12.70868589
9ADRBK22.70286008
10ERN12.51409661
11BMPR1B2.49200403
12LATS22.49037196
13PKN22.40965957
14PINK12.37329788
15BMX2.36994808
16PHKG22.28386723
17PHKG12.28386723
18LRRK22.16462277
19INSRR2.11283027
20FGFR22.08660962
21FER1.98033450
22EPHA21.94518421
23EPHB21.93302550
24MST1R1.91184431
25MAP4K21.90006691
26PTK61.87664068
27PAK41.84922945
28ACVR1B1.84739701
29MAP3K31.79700807
30ILK1.76624169
31MAPK131.72240551
32PTK21.68295676
33FGFR11.68165564
34RIPK11.67813499
35PAK21.65479241
36MKNK11.64509232
37DMPK1.64451169
38MET1.56115599
39FGFR41.55055696
40MOS1.54098057
41WNK31.52057990
42EEF2K1.50042791
43ERBB41.49428847
44MAP3K101.44233427
45PIK3CG1.40748159
46STK31.40351593
47ADRBK11.40044170
48AKT31.36902816
49FLT31.35579514
50RPS6KA41.34732290
51PDGFRB1.33247775
52MARK11.30961054
53TGFBR11.27024846
54MYLK1.25739605
55STK391.24275681
56SIK11.23971441
57WNK11.21941151
58PNCK1.21763132
59EPHB11.21709896
60OXSR11.19122672
61MTOR1.17341021
62MAPKAPK31.09914217
63PASK1.09911653
64PAK61.06142467
65EPHA41.00748684
66PRKCE0.99828809
67WNK40.98873590
68MKNK20.97455723
69STK160.97408311
70DAPK20.94934980
71CDK60.94166002
72STK380.90312196
73PRKD30.87697023
74ROCK20.87579278
75TRIM280.85891373
76EPHA30.83299468
77EIF2AK30.82731614
78MAP2K10.82419662
79TYRO30.80666138
80PRKCG0.80542507
81ROCK10.75312515
82ERBB30.74564936
83TAOK30.73589849
84MUSK0.73035372
85ERBB20.72973905
86MARK30.72041771
87NEK90.68606667
88CAMK2A0.68092143
89CSNK1G10.67235485
90MAP2K30.66551912
91CSNK1A1L0.66224953
92BUB10.65913860
93WEE10.65097160
94DYRK1A0.64265303
95RPS6KB20.63550358
96BRSK20.63469794
97PTK2B0.62240771
98PLK20.62047565
99ALK0.61592605
100CSNK1G20.60802178
101MAP2K60.60771211
102NEK20.60461957
103RET0.60460366
104STK100.59827178
105PAK30.59631466
106MAP3K20.59381093
107MAP3K80.58940431
108TRPM70.58764172
109NEK10.58655106
110TNIK0.58454343
111TGFBR20.57501365
112MAP3K70.57451259
113CASK0.57344326
114ZAK0.55584393
115NME20.55111632
116PDK20.54913599
117CSNK1G30.53936981
118PKN10.51477321
119GSK3A0.50626131
120FGFR30.50549554
121PIM20.50400583
122STK38L0.50365476
123PRKAA20.50007147
124CDK120.48532095
125PRKAA10.48323297
126CDK70.47951779
127DYRK20.46315671
128CAMK1D0.46232655
129MAPKAPK50.46099139
130LIMK10.45377107
131AKT20.45375407
132TTK0.45329536
133AURKB0.45237944
134NLK0.42325634
135PRKACA0.42264623
136INSR0.42015563
137PRKD20.40842301
138CAMK2D0.40595301
139CAMKK10.40591629
140LMTK20.40145208
141CHEK20.40109508
142ABL20.39937483
143PLK10.39811262
144NUAK10.39802753
145GRK50.38755370
146STK240.38230319
147PAK10.37947025
148MELK0.37149736
149CAMK1G0.36703590
150PRKCI0.35742216
151PIK3CA0.35518089
152CAMK2B0.35077705
153CDK150.35058565
154RPS6KA20.34744147
155NTRK10.34450837
156CDK140.34278869
157CLK10.32836089
158PRKD10.31063964
159CDK180.31018086
160SRC0.30977546
161MAPKAPK20.29022275
162CDK11A0.28383311
163MAP3K10.27687196
164PRKCH0.27645949
165PLK30.27453186

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.86668906
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.70180100
3Focal adhesion_Homo sapiens_hsa045102.69517243
4Proteoglycans in cancer_Homo sapiens_hsa052052.61436474
5Basal cell carcinoma_Homo sapiens_hsa052172.50234279
6Small cell lung cancer_Homo sapiens_hsa052222.49635045
7Hippo signaling pathway_Homo sapiens_hsa043902.48145087
8Phototransduction_Homo sapiens_hsa047442.47377261
9MicroRNAs in cancer_Homo sapiens_hsa052062.36557390
10Adherens junction_Homo sapiens_hsa045202.32048082
11Bladder cancer_Homo sapiens_hsa052192.28565152
12Hedgehog signaling pathway_Homo sapiens_hsa043402.27518311
13Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.12606074
14Amoebiasis_Homo sapiens_hsa051462.12014208
15TGF-beta signaling pathway_Homo sapiens_hsa043502.04673809
16Nitrogen metabolism_Homo sapiens_hsa009101.95900120
17Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.88352206
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.80185060
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.77767916
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.77081104
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.76562775
22Dilated cardiomyopathy_Homo sapiens_hsa054141.73843821
23AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.71657014
24Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.71608724
25Butanoate metabolism_Homo sapiens_hsa006501.69802356
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.66647995
27Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.64639329
28Tryptophan metabolism_Homo sapiens_hsa003801.61104880
29Sulfur metabolism_Homo sapiens_hsa009201.60716045
30Axon guidance_Homo sapiens_hsa043601.59115274
31Chronic myeloid leukemia_Homo sapiens_hsa052201.58622500
32Taste transduction_Homo sapiens_hsa047421.50435622
33Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.50197737
34Ribosome_Homo sapiens_hsa030101.47410408
35Protein digestion and absorption_Homo sapiens_hsa049741.47289603
36PI3K-Akt signaling pathway_Homo sapiens_hsa041511.45614966
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.45573260
38Selenocompound metabolism_Homo sapiens_hsa004501.44336181
39Nicotine addiction_Homo sapiens_hsa050331.43182152
40Calcium signaling pathway_Homo sapiens_hsa040201.43028552
41Melanoma_Homo sapiens_hsa052181.41397540
42Prostate cancer_Homo sapiens_hsa052151.40676956
43Pathways in cancer_Homo sapiens_hsa052001.36584171
44Circadian rhythm_Homo sapiens_hsa047101.34872874
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.34571497
46Maturity onset diabetes of the young_Homo sapiens_hsa049501.32367137
47Tight junction_Homo sapiens_hsa045301.32262154
48Primary bile acid biosynthesis_Homo sapiens_hsa001201.31268458
49Wnt signaling pathway_Homo sapiens_hsa043101.26749035
50Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.24562920
51Regulation of actin cytoskeleton_Homo sapiens_hsa048101.24106250
52p53 signaling pathway_Homo sapiens_hsa041151.24064285
53Basal transcription factors_Homo sapiens_hsa030221.23494493
54Propanoate metabolism_Homo sapiens_hsa006401.22286453
55Cell cycle_Homo sapiens_hsa041101.20775459
56Morphine addiction_Homo sapiens_hsa050321.19783174
57Chemical carcinogenesis_Homo sapiens_hsa052041.19755714
58HTLV-I infection_Homo sapiens_hsa051661.19316262
59Cardiac muscle contraction_Homo sapiens_hsa042601.18202470
60Viral myocarditis_Homo sapiens_hsa054161.18168520
61Homologous recombination_Homo sapiens_hsa034401.17968237
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.14315774
63Linoleic acid metabolism_Homo sapiens_hsa005911.13205293
64Melanogenesis_Homo sapiens_hsa049161.12201016
65Glioma_Homo sapiens_hsa052141.11879539
66Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.11561802
67Central carbon metabolism in cancer_Homo sapiens_hsa052301.11455593
68Steroid hormone biosynthesis_Homo sapiens_hsa001401.10759437
69Rap1 signaling pathway_Homo sapiens_hsa040151.09328584
70Caffeine metabolism_Homo sapiens_hsa002321.09108123
71Fanconi anemia pathway_Homo sapiens_hsa034601.06923524
72Endometrial cancer_Homo sapiens_hsa052131.06088199
73RNA polymerase_Homo sapiens_hsa030201.03193154
74Insulin secretion_Homo sapiens_hsa049111.02993688
75Malaria_Homo sapiens_hsa051441.02898854
76Protein export_Homo sapiens_hsa030601.02836614
77Transcriptional misregulation in cancer_Homo sapiens_hsa052021.01579646
78Pancreatic cancer_Homo sapiens_hsa052121.00636861
79Colorectal cancer_Homo sapiens_hsa052100.99518768
80Ovarian steroidogenesis_Homo sapiens_hsa049130.98984740
81GABAergic synapse_Homo sapiens_hsa047270.98077431
82Toxoplasmosis_Homo sapiens_hsa051450.97555234
83Olfactory transduction_Homo sapiens_hsa047400.97153568
84Notch signaling pathway_Homo sapiens_hsa043300.97008858
85Thyroid cancer_Homo sapiens_hsa052160.96167420
86Leukocyte transendothelial migration_Homo sapiens_hsa046700.96017330
87Renal cell carcinoma_Homo sapiens_hsa052110.93328385
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.92183186
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.90493446
90Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89773528
91VEGF signaling pathway_Homo sapiens_hsa043700.89355947
92Retinol metabolism_Homo sapiens_hsa008300.89208085
93Estrogen signaling pathway_Homo sapiens_hsa049150.88463598
94TNF signaling pathway_Homo sapiens_hsa046680.87530849
95Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.87168716
96Circadian entrainment_Homo sapiens_hsa047130.86617564
97Starch and sucrose metabolism_Homo sapiens_hsa005000.86146780
98Arginine and proline metabolism_Homo sapiens_hsa003300.85619089
99Shigellosis_Homo sapiens_hsa051310.85174072
100Serotonergic synapse_Homo sapiens_hsa047260.84904736
101One carbon pool by folate_Homo sapiens_hsa006700.84850370
102GnRH signaling pathway_Homo sapiens_hsa049120.83571475
103Fatty acid degradation_Homo sapiens_hsa000710.82900547
104ErbB signaling pathway_Homo sapiens_hsa040120.82424453
105Viral carcinogenesis_Homo sapiens_hsa052030.81352274
106HIF-1 signaling pathway_Homo sapiens_hsa040660.80183807
107Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.79549168
108Platelet activation_Homo sapiens_hsa046110.79252217
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.78417129
110beta-Alanine metabolism_Homo sapiens_hsa004100.78158721
111Gap junction_Homo sapiens_hsa045400.77381470
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.76459221
113Non-small cell lung cancer_Homo sapiens_hsa052230.76157970
114Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76069103
115Dorso-ventral axis formation_Homo sapiens_hsa043200.75901671
116Glutamatergic synapse_Homo sapiens_hsa047240.75583650
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74255646
118Sulfur relay system_Homo sapiens_hsa041220.72876910
119Lysine degradation_Homo sapiens_hsa003100.72007165
120mTOR signaling pathway_Homo sapiens_hsa041500.71875883
121Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.71217755
122Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68887712
123Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.68850666
124Apoptosis_Homo sapiens_hsa042100.66576358
125Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.66034523
126cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65985035
127Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64757237
128Mineral absorption_Homo sapiens_hsa049780.64427158
129Neurotrophin signaling pathway_Homo sapiens_hsa047220.64144675
130Salivary secretion_Homo sapiens_hsa049700.63729793
131Tyrosine metabolism_Homo sapiens_hsa003500.62789686
132Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.62219256
133Oocyte meiosis_Homo sapiens_hsa041140.61888208
134Sphingolipid metabolism_Homo sapiens_hsa006000.61130932
135MAPK signaling pathway_Homo sapiens_hsa040100.61074056
136Salmonella infection_Homo sapiens_hsa051320.60998542
137Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60151993
138Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59073491
139Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.58660657
140Oxidative phosphorylation_Homo sapiens_hsa001900.58457477
141Ras signaling pathway_Homo sapiens_hsa040140.57401462
142Phospholipase D signaling pathway_Homo sapiens_hsa040720.57164711
143ABC transporters_Homo sapiens_hsa020100.57063356
144Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57025506
145Ether lipid metabolism_Homo sapiens_hsa005650.55018909
146Collecting duct acid secretion_Homo sapiens_hsa049660.54251626
147Hepatitis B_Homo sapiens_hsa051610.53603596
148Acute myeloid leukemia_Homo sapiens_hsa052210.53477225
149Glucagon signaling pathway_Homo sapiens_hsa049220.52685064
150Glycerolipid metabolism_Homo sapiens_hsa005610.52546491
151FoxO signaling pathway_Homo sapiens_hsa040680.50204251
152Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49007796
153Aldosterone synthesis and secretion_Homo sapiens_hsa049250.48365114
154Parkinsons disease_Homo sapiens_hsa050120.48034590
155Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47891240
156Cyanoamino acid metabolism_Homo sapiens_hsa004600.47855884
157Cocaine addiction_Homo sapiens_hsa050300.47799331
158Endocytosis_Homo sapiens_hsa041440.47484664
159Pentose and glucuronate interconversions_Homo sapiens_hsa000400.47343375
160Purine metabolism_Homo sapiens_hsa002300.47112985
161Dopaminergic synapse_Homo sapiens_hsa047280.46163350
162Cysteine and methionine metabolism_Homo sapiens_hsa002700.45948005
163Metabolic pathways_Homo sapiens_hsa011000.45500132
164Prolactin signaling pathway_Homo sapiens_hsa049170.45118070
165Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44683365
166Insulin signaling pathway_Homo sapiens_hsa049100.43874420
167RNA transport_Homo sapiens_hsa030130.42472962
168Sphingolipid signaling pathway_Homo sapiens_hsa040710.41200931
169Vascular smooth muscle contraction_Homo sapiens_hsa042700.40914634
170Insulin resistance_Homo sapiens_hsa049310.38339531
171Thyroid hormone synthesis_Homo sapiens_hsa049180.37951729
172AMPK signaling pathway_Homo sapiens_hsa041520.37937372
173Oxytocin signaling pathway_Homo sapiens_hsa049210.37347416

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