AVPR1B

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





Description: The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1keratinocyte proliferation (GO:0043616)9.74991203
2interferon-gamma secretion (GO:0072643)9.05057034
3COPI coating of Golgi vesicle (GO:0048205)7.97759992
4Golgi transport vesicle coating (GO:0048200)7.97759992
5response to interferon-beta (GO:0035456)6.41139304
6positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003576.41048974
7negative regulation of metanephros development (GO:0072217)6.32574434
8peptide hormone processing (GO:0016486)6.16155642
9negative regulation of execution phase of apoptosis (GO:1900118)6.12142220
10L-alpha-amino acid transmembrane transport (GO:1902475)5.92859446
11negative regulation of viral entry into host cell (GO:0046597)5.71119557
12oligosaccharide catabolic process (GO:0009313)5.64151072
13virion attachment to host cell (GO:0019062)5.64068781
14adhesion of symbiont to host cell (GO:0044650)5.64068781
15cellular response to vitamin D (GO:0071305)5.58474649
16nephron tubule formation (GO:0072079)5.57195021
17response to protozoan (GO:0001562)5.53546044
18endocrine pancreas development (GO:0031018)5.52041293
19response to interferon-alpha (GO:0035455)5.43745706
20keratinocyte development (GO:0003334)5.38534369
21specification of organ identity (GO:0010092)5.04628223
22positive regulation of insulin secretion (GO:0032024)4.99179685
23type B pancreatic cell development (GO:0003323)4.92645626
24glandular epithelial cell differentiation (GO:0002067)4.85187231
25glandular epithelial cell development (GO:0002068)4.80787312
26maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.79586100
27pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.73711130
28negative regulation of mesenchymal cell apoptotic process (GO:2001054)4.66679282
29retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.58720516
30regulation of mesenchymal cell apoptotic process (GO:2001053)4.57925140
31nephron tubule development (GO:0072080)4.57819605
32cGMP-mediated signaling (GO:0019934)4.56387768
33positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.50145356
34regulation of respiratory gaseous exchange by neurological system process (GO:0002087)4.49562964
35heart morphogenesis (GO:0003007)4.46398445
36drinking behavior (GO:0042756)4.45886317
37maturation of SSU-rRNA (GO:0030490)4.43773466
38adhesion of symbiont to host (GO:0044406)4.37291846
39positive regulation of calcium ion import (GO:0090280)4.35572655
40negative regulation of JUN kinase activity (GO:0043508)4.32435393
41protein retention in ER lumen (GO:0006621)4.26821726
42branching involved in labyrinthine layer morphogenesis (GO:0060670)4.20214261
43regulation of viral entry into host cell (GO:0046596)4.18859561
44regulation of apoptotic process involved in morphogenesis (GO:1902337)4.17017205
45regulation of nephron tubule epithelial cell differentiation (GO:0072182)4.15104939
46cornea development in camera-type eye (GO:0061303)4.14287681
47toxin metabolic process (GO:0009404)4.12247326
48primary alcohol catabolic process (GO:0034310)4.11744400
49regulation of myelination (GO:0031641)4.11452733
50protein-cofactor linkage (GO:0018065)4.11434278
51renal tubule development (GO:0061326)4.10046962
52insulin secretion (GO:0030073)4.04019530
53positive regulation of peptidyl-threonine phosphorylation (GO:0010800)4.03393603
54positive regulation of histone H3-K4 methylation (GO:0051571)3.99371996
55positive regulation of synaptic transmission, GABAergic (GO:0032230)3.96825149
56positive regulation of peptide hormone secretion (GO:0090277)3.96039902
57columnar/cuboidal epithelial cell development (GO:0002066)3.94367847
58negative regulation of digestive system process (GO:0060457)3.93812642
59regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.93146361
60regulation of uterine smooth muscle contraction (GO:0070472)3.92753225
61determination of left/right symmetry (GO:0007368)3.88913179
62neuron fate specification (GO:0048665)3.87536498
63astrocyte differentiation (GO:0048708)3.83639610
64positive regulation of peptide secretion (GO:0002793)3.83089306
65regulation of neurological system process (GO:0031644)3.82329428
66cellular response to glucagon stimulus (GO:0071377)3.81438201
67nephron tubule morphogenesis (GO:0072078)3.78743751
68nephron epithelium morphogenesis (GO:0072088)3.78743751
69pattern specification involved in kidney development (GO:0061004)3.75685881
70pyrimidine nucleotide catabolic process (GO:0006244)3.75413101
71positive regulation of vesicle fusion (GO:0031340)3.74945147
72aggressive behavior (GO:0002118)3.73784547
73regulation of respiratory system process (GO:0044065)3.73033387
74regulation of penile erection (GO:0060405)3.72340569
75COPII vesicle coating (GO:0048208)3.72055420
76detection of calcium ion (GO:0005513)3.72048937
77nephron epithelium development (GO:0072009)3.70713206
78regulation of insulin secretion (GO:0050796)3.68654150
79inositol metabolic process (GO:0006020)3.67064833
80auditory receptor cell differentiation (GO:0042491)3.63465248
81determination of bilateral symmetry (GO:0009855)3.63214511
82specification of symmetry (GO:0009799)3.62843179
83mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.62144688
84epithelial cell fate commitment (GO:0072148)3.61894205
85signal peptide processing (GO:0006465)3.61495997
86regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.61100651
87renal system development (GO:0072001)3.60729331
88regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)3.59612727
89sequestering of metal ion (GO:0051238)3.58909220
90cellular response to vitamin (GO:0071295)3.58219334
91regulation of epithelial cell differentiation involved in kidney development (GO:2000696)3.58172163
92protein maturation by protein folding (GO:0022417)3.53336149
93positive regulation of uterine smooth muscle contraction (GO:0070474)3.48991085
94galactose catabolic process (GO:0019388)3.47516042
95activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.45148372
96regulation of transforming growth factor beta1 production (GO:0032908)3.40764901
97renal tubule morphogenesis (GO:0061333)3.40271905
98epithelial cell differentiation involved in kidney development (GO:0035850)3.39341949
99negative regulation of viral genome replication (GO:0045071)3.38254688
100extracellular fibril organization (GO:0043206)3.35193803
101regulation of peptide hormone secretion (GO:0090276)3.34288170
102negative regulation of kidney development (GO:0090185)3.33928736
103peptide hormone secretion (GO:0030072)3.32670401
104activation of MAPKKK activity (GO:0000185)3.32535297
105membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.31022681
106mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.29868460
107response to xenobiotic stimulus (GO:0009410)3.28641409
108ethanol oxidation (GO:0006069)3.28160347
109regulation of peptide secretion (GO:0002791)3.28116558
110mesonephros development (GO:0001823)3.27467642
111regulation of calcium ion-dependent exocytosis (GO:0017158)3.27331551
112regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.26457491
113vesicle coating (GO:0006901)3.25632800
114positive regulation of gluconeogenesis (GO:0045722)3.25099279
115metanephric nephron tubule development (GO:0072234)3.24807358
116metanephric tubule development (GO:0072170)3.24807358
117peptide secretion (GO:0002790)3.24344481
118adaptation of signaling pathway (GO:0023058)3.22900168
119response to hepatocyte growth factor (GO:0035728)3.22811919
120cellular response to hepatocyte growth factor stimulus (GO:0035729)3.22811919
121regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.22149893
122regulation of respiratory gaseous exchange (GO:0043576)3.18874447
123positive regulation of nuclease activity (GO:0032075)3.18497688
124lipopolysaccharide biosynthetic process (GO:0009103)3.18473225
125retina layer formation (GO:0010842)3.18287772
126protein autoprocessing (GO:0016540)3.18246803
127positive regulation of astrocyte differentiation (GO:0048711)3.18025149
128brown fat cell differentiation (GO:0050873)3.18012477
129maternal behavior (GO:0042711)3.17756440
130phosphorylated carbohydrate dephosphorylation (GO:0046838)3.15461784
131inositol phosphate dephosphorylation (GO:0046855)3.15461784
132positive regulation of amino acid transport (GO:0051957)3.15329911
133angiotensin maturation (GO:0002003)3.10270593
134eating behavior (GO:0042755)3.06730768
135production of molecular mediator involved in inflammatory response (GO:0002532)3.04938804
136parental behavior (GO:0060746)3.03515255
137photoreceptor cell differentiation (GO:0046530)3.03233239
138eye photoreceptor cell differentiation (GO:0001754)3.03233239
139positive regulation of odontogenesis (GO:0042482)3.02769856
140embryonic heart tube development (GO:0035050)3.01606758
141positive regulation of hormone secretion (GO:0046887)2.99978758
142negative regulation of glycogen biosynthetic process (GO:0045719)2.99715969
143regulation of type B pancreatic cell apoptotic process (GO:2000674)2.99702694
144regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.98115625
145regulation of nuclease activity (GO:0032069)2.97815583
146suckling behavior (GO:0001967)2.97144322
147exocrine pancreas development (GO:0031017)2.95537495
148axon regeneration (GO:0031103)2.94870252
149spermatid nucleus differentiation (GO:0007289)2.94837259
150response to dietary excess (GO:0002021)2.94337105
151inositol phosphate catabolic process (GO:0071545)2.89746422
152negative regulation of transcription by competitive promoter binding (GO:0010944)2.89599620
153regulation of hormone secretion (GO:0046883)2.88814850
154membrane repolarization during action potential (GO:0086011)2.87718710
155ribosomal small subunit biogenesis (GO:0042274)2.86603110
156macroautophagy (GO:0016236)2.84425307
157macrophage chemotaxis (GO:0048246)2.82908985
158metanephric nephron epithelium development (GO:0072243)2.81264574
159activation of protein kinase A activity (GO:0034199)2.80342118
160regulation of pigment cell differentiation (GO:0050932)2.80121889
161feeding behavior (GO:0007631)2.79137205
162growth hormone secretion (GO:0030252)2.78565182
163response to ischemia (GO:0002931)2.77946390
164neural crest cell development (GO:0014032)2.76669626
165inner ear receptor cell differentiation (GO:0060113)2.76608715
166chemosensory behavior (GO:0007635)2.76198848
167ER overload response (GO:0006983)2.75868187
168viral transcription (GO:0019083)2.72904850
169endoplasmic reticulum unfolded protein response (GO:0030968)2.72377052
170fibril organization (GO:0097435)2.72230891
171response to glucagon (GO:0033762)2.71866625
172regulation of cell fate specification (GO:0042659)2.70237423
173lipopolysaccharide metabolic process (GO:0008653)2.69256426
174urogenital system development (GO:0001655)2.68924585
175negative regulation of glycogen metabolic process (GO:0070874)2.68555692
176intra-Golgi vesicle-mediated transport (GO:0006891)2.67541384
177embryonic retina morphogenesis in camera-type eye (GO:0060059)2.67525684
178regulation of peptide transport (GO:0090087)2.67365708
179substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.66640331
180substrate-independent telencephalic tangential migration (GO:0021826)2.66640331
181angiogenesis involved in wound healing (GO:0060055)2.66285343
182ear development (GO:0043583)2.65630759
183secondary heart field specification (GO:0003139)2.65586129
184* regulation of systemic arterial blood pressure by hormone (GO:0001990)2.65244333
185* regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)2.65244333
186* endocrine process (GO:0050886)2.65244333
187regulation of vesicle fusion (GO:0031338)2.63221829
188cellular response to unfolded protein (GO:0034620)2.62156564
189hormone secretion (GO:0046879)2.61305898
190nitric oxide mediated signal transduction (GO:0007263)2.61274929
191peptide transport (GO:0015833)2.60925756
192regulation of norepinephrine secretion (GO:0014061)2.59505121
193ER-nucleus signaling pathway (GO:0006984)2.59497723
194regulation of calcium ion import (GO:0090279)2.59365867
195regulation of axon regeneration (GO:0048679)11.8857041
196regulation of neuron projection regeneration (GO:0070570)11.8857041
197negative regulation of neurological system process (GO:0031645)10.7390272

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KLF2_18264089_ChIP-ChIP_MESCs_Mouse7.83291016
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse7.83291016
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse7.83291016
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse7.80424658
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.40263251
6GBX2_23144817_ChIP-Seq_PC3_Human2.75141170
7EZH2_22144423_ChIP-Seq_EOC_Human2.64730116
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.59785632
9CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.45830884
10STAT6_21828071_ChIP-Seq_BEAS2B_Human2.45447333
11IGF1R_20145208_ChIP-Seq_DFB_Human2.32908826
12CDX2_20551321_ChIP-Seq_CACO-2_Human2.29584013
13TRIM28_21343339_ChIP-Seq_HEK293_Human2.21243395
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.13974943
15EGR1_19032775_ChIP-ChIP_M12_Human2.13037124
16SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.12929831
17POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.05248641
18IRF8_22096565_ChIP-ChIP_GC-B_Human2.04214214
19REST_21632747_ChIP-Seq_MESCs_Mouse1.99239373
20SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.97504084
21SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.95495038
22GATA1_22025678_ChIP-Seq_K562_Human1.88115807
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.86838226
24EZH2_27304074_Chip-Seq_ESCs_Mouse1.85708247
25BMI1_23680149_ChIP-Seq_NPCS_Mouse1.82835099
26JARID2_20064375_ChIP-Seq_MESCs_Mouse1.81004347
27TCF3_18692474_ChIP-Seq_MEFs_Mouse1.80736926
28POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.80552188
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.77087054
30ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.76484630
31ESR1_21235772_ChIP-Seq_MCF-7_Human1.75443179
32MTF2_20144788_ChIP-Seq_MESCs_Mouse1.74538594
33SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.72719605
34JARID2_20075857_ChIP-Seq_MESCs_Mouse1.70297502
35POU3F2_20337985_ChIP-ChIP_501MEL_Human1.69355219
36SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.67771668
37TP53_20018659_ChIP-ChIP_R1E_Mouse1.65900329
38GATA1_26923725_Chip-Seq_HPCs_Mouse1.65814386
39SOX2_18555785_ChIP-Seq_MESCs_Mouse1.64081351
40FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.63755915
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.62679333
42NR3C1_23031785_ChIP-Seq_PC12_Mouse1.59565112
43SUZ12_27294783_Chip-Seq_ESCs_Mouse1.59213461
44E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.58591381
45DROSHA_22980978_ChIP-Seq_HELA_Human1.56591435
46CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.56412913
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.56310472
48POU5F1_16153702_ChIP-ChIP_HESCs_Human1.55842307
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.54412976
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.54406626
51REST_18959480_ChIP-ChIP_MESCs_Mouse1.50252678
52ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49299707
53ELF1_17652178_ChIP-ChIP_JURKAT_Human1.43523686
54MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.43279306
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.42978548
56PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.42379951
57SMAD4_21799915_ChIP-Seq_A2780_Human1.42115824
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41079593
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41072761
60ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.39693417
61EZH2_18974828_ChIP-Seq_MESCs_Mouse1.38208541
62RNF2_18974828_ChIP-Seq_MESCs_Mouse1.38208541
63CBX2_27304074_Chip-Seq_ESCs_Mouse1.37120564
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.34954848
65NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.33839703
66OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.32656705
67BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.32609569
68ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.30603173
69MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.29692022
70RNF2_27304074_Chip-Seq_ESCs_Mouse1.28539407
71ZFP57_27257070_Chip-Seq_ESCs_Mouse1.27883541
72SOX2_21211035_ChIP-Seq_LN229_Gbm1.27443047
73ESR1_15608294_ChIP-ChIP_MCF-7_Human1.26487800
74STAT1_20625510_ChIP-Seq_HELA_Human1.26428879
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25823419
76STAT3_23295773_ChIP-Seq_U87_Human1.23638730
77ESR1_20079471_ChIP-ChIP_T-47D_Human1.20777616
78* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19564900
79FOXO3_23340844_ChIP-Seq_DLD1_Human1.19049783
80ZNF274_21170338_ChIP-Seq_K562_Hela1.17207363
81ESR2_21235772_ChIP-Seq_MCF-7_Human1.17124174
82* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.16743426
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15843183
84CTBP1_25329375_ChIP-Seq_LNCAP_Human1.15540936
85STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.14893501
86OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13903233
87GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.13352194
88* NANOG_18555785_Chip-Seq_ESCs_Mouse1.13331770
89AR_19668381_ChIP-Seq_PC3_Human1.12362145
90* NMYC_18555785_Chip-Seq_ESCs_Mouse1.11386182
91TCF4_23295773_ChIP-Seq_U87_Human1.10886605
92* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07911414
93TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07746956
94LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06655257
95FOXA1_21572438_ChIP-Seq_LNCaP_Human1.05855353
96P300_19829295_ChIP-Seq_ESCs_Human1.05841523
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04182595
98* ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.04155555
99YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03807886
100NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.03556135
101LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03396307
102TP53_22573176_ChIP-Seq_HFKS_Human1.02772101
103AR_20517297_ChIP-Seq_VCAP_Human1.02130240
104RXR_22108803_ChIP-Seq_LS180_Human1.01931368
105RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.01924405
106* EZH2_27294783_Chip-Seq_NPCs_Mouse1.01049801
107* SOX2_18555785_Chip-Seq_ESCs_Mouse1.00786627
108RING1B_27294783_Chip-Seq_NPCs_Mouse1.00567930
109NFIB_24661679_ChIP-Seq_LUNG_Mouse1.00177392
110EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.99876654
111PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99423507
112RUNX2_22187159_ChIP-Seq_PCA_Human0.98434023
113* P53_22387025_ChIP-Seq_ESCs_Mouse0.98360401
114TAL1_26923725_Chip-Seq_HPCs_Mouse0.96520070
115GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96466489
116EGR1_23403033_ChIP-Seq_LIVER_Mouse0.96248847
117* STAT3_18555785_Chip-Seq_ESCs_Mouse0.95969574
118IKZF1_21737484_ChIP-ChIP_HCT116_Human0.95432479
119* ESRRB_18555785_Chip-Seq_ESCs_Mouse0.95374889
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94636822
121* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.94147791
122* SMAD1_18555785_Chip-Seq_ESCs_Mouse0.94040380
123* CMYC_18555785_Chip-Seq_ESCs_Mouse0.94022185
124MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93662775
125WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92862130
126RNF2_27304074_Chip-Seq_NSC_Mouse0.92134248
127TET1_21451524_ChIP-Seq_MESCs_Mouse0.91961158
128SMAD4_21741376_ChIP-Seq_HESCs_Human0.91801001
129* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.90474553
130KDM2B_26808549_Chip-Seq_REH_Human0.90214478
131SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.89911339
132FOXA1_25552417_ChIP-Seq_VCAP_Human0.89850362
133EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.89545703
134* ISL1_27105846_Chip-Seq_CPCs_Mouse0.89169635
135PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.89016888
136* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.88872488
137TP53_16413492_ChIP-PET_HCT116_Human0.87937997
138FOXH1_21741376_ChIP-Seq_EPCs_Human0.87766901
139* NFE2_27457419_Chip-Seq_LIVER_Mouse0.87676762
140SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.87363701
141SMAD3_21741376_ChIP-Seq_EPCs_Human0.87034191
142* SUZ12_18555785_Chip-Seq_ESCs_Mouse0.86877424
143TAF15_26573619_Chip-Seq_HEK293_Human0.86004090
144NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85922621
145CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.84463838
146WDR5_24793694_ChIP-Seq_LNCAP_Human0.79945106
147STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.79548468
148SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79515507
149YY1_22570637_ChIP-Seq_MALME-3M_Human0.79133468
150OCT1_27270436_Chip-Seq_PROSTATE_Human0.79045234
151POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.77925982
152MYC_18940864_ChIP-ChIP_HL60_Human0.77514388
153PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.76100744
154SOX2_16153702_ChIP-ChIP_HESCs_Human0.74554906
155VDR_22108803_ChIP-Seq_LS180_Human0.73602679
156BCL6_27268052_Chip-Seq_Bcells_Human0.73043986
157GATA1_19941826_ChIP-Seq_K562_Human0.71984628
158TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.70746708
159P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.69754963
160FOXH1_21741376_ChIP-Seq_ESCs_Human0.69267315
161TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.69142128
162NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.68399603
163TCF3_18692474_ChIP-Seq_MESCs_Mouse0.67526351
164NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.66993018
165SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.65793124
166SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.65727951
167SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.65093606
168SPI1_20517297_ChIP-Seq_HL60_Human0.64154633
169SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.62899173
170SOX2_22085726_ChIP-Seq_NPCs_Mouse0.62636822
171RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61173710

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004133_heterotaxia7.87995747
2MP0000013_abnormal_adipose_tissue5.99130668
3MP0003183_abnormal_peptide_metabolism5.35368784
4MP0003195_calcinosis4.72054957
5MP0002653_abnormal_ependyma_morphology4.34996919
6MP0005645_abnormal_hypothalamus_physiol4.33626580
7MP0000003_abnormal_adipose_tissue4.15932707
8MP0005379_endocrine/exocrine_gland_phen4.12089486
9MP0002909_abnormal_adrenal_gland3.77946434
10MP0009379_abnormal_foot_pigmentation3.56805095
11MP0000372_irregular_coat_pigmentation3.50412282
12MP0002139_abnormal_hepatobiliary_system3.42343171
13MP0010386_abnormal_urinary_bladder3.38166427
14MP0002837_dystrophic_cardiac_calcinosis3.35093372
15MP0001944_abnormal_pancreas_morphology3.18992777
16MP0004272_abnormal_basement_membrane3.13951631
17MP0000566_synostosis3.03326959
18MP0002693_abnormal_pancreas_physiology3.01587722
19MP0002877_abnormal_melanocyte_morpholog2.98075737
20MP0003283_abnormal_digestive_organ2.70908175
21MP0000678_abnormal_parathyroid_gland2.51981688
22MP0002822_catalepsy2.36104151
23MP0004043_abnormal_pH_regulation2.28639078
24MP0005187_abnormal_penis_morphology2.21034984
25MP0005058_abnormal_lysosome_morphology2.13906784
26MP0009765_abnormal_xenobiotic_induced2.11366998
27MP0009785_altered_susceptibility_to2.07882721
28MP0005220_abnormal_exocrine_pancreas2.05904071
29MP0002132_abnormal_respiratory_system2.01731448
30MP0009780_abnormal_chondrocyte_physiolo1.99992978
31MP0004270_analgesia1.95493274
32MP0003122_maternal_imprinting1.92138780
33MP0002078_abnormal_glucose_homeostasis1.91796515
34MP0003172_abnormal_lysosome_physiology1.91486149
35MP0003300_gastrointestinal_ulcer1.90163812
36MP0005375_adipose_tissue_phenotype1.89422247
37MP0003938_abnormal_ear_development1.87267277
38MP0003879_abnormal_hair_cell1.86380724
39MP0000681_abnormal_thyroid_gland1.79769959
40MP0003943_abnormal_hepatobiliary_system1.78982092
41MP0005084_abnormal_gallbladder_morpholo1.71722576
42MP0003950_abnormal_plasma_membrane1.66245498
43MP0001765_abnormal_ion_homeostasis1.59479842
44MP0002234_abnormal_pharynx_morphology1.56358605
45MP0004510_myositis1.55867162
46MP0003868_abnormal_feces_composition1.53666033
47MP0006072_abnormal_retinal_apoptosis1.53537741
48MP0002638_abnormal_pupillary_reflex1.53494083
49MP0006054_spinal_hemorrhage1.50962668
50MP0004145_abnormal_muscle_electrophysio1.48847297
51MP0003787_abnormal_imprinting1.47953756
52MP0002163_abnormal_gland_morphology1.46090037
53MP0001756_abnormal_urination1.43781570
54MP0003959_abnormal_lean_body1.40826041
55MP0000049_abnormal_middle_ear1.37222311
56MP0000647_abnormal_sebaceous_gland1.36740806
57MP0005365_abnormal_bile_salt1.35668744
58MP0000383_abnormal_hair_follicle1.32217607
59MP0003186_abnormal_redox_activity1.31491487
60MP0002896_abnormal_bone_mineralization1.30220359
61MP0005257_abnormal_intraocular_pressure1.30158309
62MP0002734_abnormal_mechanical_nocicepti1.29263977
63MP0004264_abnormal_extraembryonic_tissu1.28026203
64MP0001270_distended_abdomen1.23941031
65MP0001188_hyperpigmentation1.19497767
66MP0000613_abnormal_salivary_gland1.17813221
67MP0000230_abnormal_systemic_arterial1.14091599
68MP0009763_increased_sensitivity_to1.13995358
69MP0002733_abnormal_thermal_nociception1.12930755
70MP0005171_absent_coat_pigmentation1.11757251
71MP0002938_white_spotting1.08918431
72MP0004381_abnormal_hair_follicle1.05954461
73* MP0003953_abnormal_hormone_level1.05206981
74MP0004019_abnormal_vitamin_homeostasis1.04431389
75MP0001666_abnormal_nutrient_absorption1.04295017
76MP0003011_delayed_dark_adaptation1.00172421
77MP0002089_abnormal_postnatal_growth/wei0.99459195
78MP0000538_abnormal_urinary_bladder0.98458189
79MP0002102_abnormal_ear_morphology0.96796585
80MP0001986_abnormal_taste_sensitivity0.96716785
81MP0002138_abnormal_hepatobiliary_system0.96108499
82MP0003045_fibrosis0.94933671
83MP0009643_abnormal_urine_homeostasis0.94187192
84MP0008961_abnormal_basal_metabolism0.94000928
85MP0006292_abnormal_olfactory_placode0.93527945
86* MP0002064_seizures0.93078198
87MP0005377_hearing/vestibular/ear_phenot0.92952823
88MP0003878_abnormal_ear_physiology0.92952823
89MP0002095_abnormal_skin_pigmentation0.89974272
90MP0002751_abnormal_autonomic_nervous0.87831703
91MP0004147_increased_porphyrin_level0.87094802
92MP0003136_yellow_coat_color0.85990511
93MP0000631_abnormal_neuroendocrine_gland0.85318184
94MP0001905_abnormal_dopamine_level0.83783542
95MP0005671_abnormal_response_to0.83732966
96MP0001970_abnormal_pain_threshold0.83587430
97MP0001664_abnormal_digestion0.81757542
98MP0005448_abnormal_energy_balance0.80330491
99MP0002928_abnormal_bile_duct0.80198760
100MP0006276_abnormal_autonomic_nervous0.79249036
101MP0003633_abnormal_nervous_system0.78150527
102MP0010234_abnormal_vibrissa_follicle0.77051013
103MP0003121_genomic_imprinting0.75600022
104MP0005253_abnormal_eye_physiology0.74426629
105MP0002184_abnormal_innervation0.73433663
106MP0005636_abnormal_mineral_homeostasis0.73327898
107MP0005334_abnormal_fat_pad0.72445853
108MP0005367_renal/urinary_system_phenotyp0.72063988
109MP0000516_abnormal_urinary_system0.72063988
110MP0000462_abnormal_digestive_system0.71957547
111MP0003635_abnormal_synaptic_transmissio0.71791664
112MP0002932_abnormal_joint_morphology0.71572062
113MP0000534_abnormal_ureter_morphology0.70675586
114MP0004808_abnormal_hematopoietic_stem0.70316073
115MP0009046_muscle_twitch0.69980646
116MP0001853_heart_inflammation0.69149407
117MP0002069_abnormal_eating/drinking_beha0.68132053
118MP0005408_hypopigmentation0.67953688
119MP0000955_abnormal_spinal_cord0.66375623
120* MP0002557_abnormal_social/conspecific_i0.66089609
121MP0005085_abnormal_gallbladder_physiolo0.65873995
122MP0009840_abnormal_foam_cell0.65710105
123MP0001502_abnormal_circadian_rhythm0.65621172
124MP0005535_abnormal_body_temperature0.64779939
125MP0001299_abnormal_eye_distance/0.64702393
126MP0005451_abnormal_body_composition0.63201359
127MP0001879_abnormal_lymphatic_vessel0.63176249
128MP0005670_abnormal_white_adipose0.62978740
129* MP0009745_abnormal_behavioral_response0.62962076
130MP0000579_abnormal_nail_morphology0.62618035
131MP0005646_abnormal_pituitary_gland0.62413037
132MP0005452_abnormal_adipose_tissue0.61585165
133MP0001851_eye_inflammation0.61295290
134MP0005464_abnormal_platelet_physiology0.61136712
135MP0005025_abnormal_response_to0.60236868
136MP0003123_paternal_imprinting0.59598257
137MP0003252_abnormal_bile_duct0.58669386
138MP0002168_other_aberrant_phenotype0.57039412
139MP0005409_darkened_coat_color0.56705569
140MP0002177_abnormal_outer_ear0.56034462
141MP0005551_abnormal_eye_electrophysiolog0.55542569
142MP0005023_abnormal_wound_healing0.55469909
143* MP0002572_abnormal_emotion/affect_behav0.54982649
144MP0001346_abnormal_lacrimal_gland0.54970315
145MP0005584_abnormal_enzyme/coenzyme_acti0.54844505
146MP0003119_abnormal_digestive_system0.54551601
147MP0004858_abnormal_nervous_system0.54253677
148MP0002876_abnormal_thyroid_physiology0.53915479
149MP0001485_abnormal_pinna_reflex0.51948252
150MP0008789_abnormal_olfactory_epithelium0.51791576
151MP0001661_extended_life_span0.51424003
152MP0002272_abnormal_nervous_system0.50826648
153MP0004885_abnormal_endolymph0.50190989
154MP0003866_abnormal_defecation0.49066187
155MP0001919_abnormal_reproductive_system0.48856934
156MP0010678_abnormal_skin_adnexa0.48784024
157MP0002998_abnormal_bone_remodeling0.48486200
158MP0002092_abnormal_eye_morphology0.47027600
159MP0004134_abnormal_chest_morphology0.45716895
160MP0001963_abnormal_hearing_physiology0.45476862
161MP0005195_abnormal_posterior_eye0.45183573
162MP0005391_vision/eye_phenotype0.45102796
163MP0000026_abnormal_inner_ear0.44842225
164MP0008873_increased_physiological_sensi0.43799329
165MP0002098_abnormal_vibrissa_morphology0.43327258
166MP0000598_abnormal_liver_morphology0.42716231
167MP0003724_increased_susceptibility_to0.42212634
168MP0009250_abnormal_appendicular_skeleto0.42167491
169MP0002108_abnormal_muscle_morphology0.40926890
170MP0005076_abnormal_cell_differentiation0.40824306
171MP0001614_abnormal_blood_vessel0.39819222

Predicted human phenotypes

RankGene SetZ-score
1Elevated circulating parathyroid hormone (PTH) level (HP:0003165)9.45970494
2Abnormality of the lower motor neuron (HP:0002366)9.13051537
3Hyperinsulinemic hypoglycemia (HP:0000825)7.39868600
4Ankle contracture (HP:0006466)7.23743128
5Abnormality of calcium-phosphate metabolism (HP:0100530)6.06090523
6Hypoglycemic seizures (HP:0002173)6.04346768
7Symptomatic seizures (HP:0011145)5.96933531
8Impulsivity (HP:0100710)5.54997217
9Large for gestational age (HP:0001520)5.50855519
10Hyperglycemia (HP:0003074)5.22900204
11Thyroid-stimulating hormone excess (HP:0002925)5.20209866
12Pancreatic islet-cell hyperplasia (HP:0004510)5.16635443
13Insulin-resistant diabetes mellitus (HP:0000831)4.97447832
14Ketoacidosis (HP:0001993)4.78835101
15Hypoglycemic coma (HP:0001325)4.70759936
16Agitation (HP:0000713)4.65700629
173-Methylglutaconic aciduria (HP:0003535)4.53343205
18Abnormality of endocrine pancreas physiology (HP:0012093)4.51624345
19Abnormality of the pancreatic islet cells (HP:0006476)4.51624345
20Concave nail (HP:0001598)4.26003721
21Abnormality of the nasal septum (HP:0000419)4.16890386
22Prolonged neonatal jaundice (HP:0006579)3.98666636
23Progressive visual loss (HP:0000529)3.73619831
24Hyperparathyroidism (HP:0000843)3.70817584
25Scapular winging (HP:0003691)3.70389293
26Stenosis of the external auditory canal (HP:0000402)3.62619177
27Craniofacial dystonia (HP:0012179)3.46937241
28Retinal atrophy (HP:0001105)3.41973009
29Congenital sensorineural hearing impairment (HP:0008527)3.40129745
30Nasolacrimal duct obstruction (HP:0000579)3.34460626
31Hyperphosphatemia (HP:0002905)3.32568173
32Late onset (HP:0003584)3.32320459
33Papilledema (HP:0001085)3.28398150
34Hypsarrhythmia (HP:0002521)3.25682058
35EEG with generalized epileptiform discharges (HP:0011198)3.24237998
36Conical tooth (HP:0000698)3.23833216
37Epileptiform EEG discharges (HP:0011182)3.18980045
38Focal dystonia (HP:0004373)3.18407684
39Hoarse voice (HP:0001609)3.13697692
40Patchy hypopigmentation of hair (HP:0011365)3.09610872
41Hypoplasia of the uterus (HP:0000013)3.08111265
42Decreased circulating renin level (HP:0003351)3.01203495
43Focal motor seizures (HP:0011153)3.00101348
44Increased circulating renin level (HP:0000848)2.94951558
45Dysostosis multiplex (HP:0000943)2.91315328
46Urinary glycosaminoglycan excretion (HP:0003541)2.89962745
47Mucopolysacchariduria (HP:0008155)2.89962745
48Unilateral renal agenesis (HP:0000122)2.89943256
49Lip pit (HP:0100267)2.88153323
50Abolished electroretinogram (ERG) (HP:0000550)2.87355007
51Osteomalacia (HP:0002749)2.85976015
52Abnormality of polysaccharide metabolism (HP:0011012)2.85526757
53Abnormality of glycosaminoglycan metabolism (HP:0004371)2.85526757
54Abnormality of mucopolysaccharide metabolism (HP:0011020)2.85526757
55Blue irides (HP:0000635)2.84401581
56Abnormality of the motor neurons (HP:0002450)2.84246573
57Abnormal neuron morphology (HP:0012757)2.84246573
58Prominent metopic ridge (HP:0005487)2.82786714
59Macroorchidism (HP:0000053)2.81349342
60Myokymia (HP:0002411)2.78338607
61Hypothermia (HP:0002045)2.78205634
62Chronic otitis media (HP:0000389)2.78047754
63Central scotoma (HP:0000603)2.74560063
64Ketosis (HP:0001946)2.70069284
65Hypokalemia (HP:0002900)2.67658913
66Split foot (HP:0001839)2.66325937
67Abnormality of permanent molar morphology (HP:0011071)2.66250712
68Abnormality of the dental root (HP:0006486)2.66250712
69Taurodontia (HP:0000679)2.66250712
70Vitreoretinal degeneration (HP:0000655)2.64905082
71Overfolded helix (HP:0000396)2.63844295
72Hyperkalemia (HP:0002153)2.62100711
73Abnormality of aromatic amino acid family metabolism (HP:0004338)2.61917947
74Abnormality of the parietal bone (HP:0002696)2.61317932
75Abnormality of renin-angiotensin system (HP:0000847)2.57194853
76Abnormality of the lacrimal duct (HP:0011481)2.55474865
77Restlessness (HP:0000711)2.55019092
78Abnormality of potassium homeostasis (HP:0011042)2.53952676
79Hypophosphatemia (HP:0002148)2.52681845
80Abnormal pancreas size (HP:0012094)2.51565619
81Dyschromatopsia (HP:0007641)2.51193037
82Menstrual irregularities (HP:0000858)2.48304206
83Orthostatic hypotension (HP:0001278)2.46601132
84Abnormality of molar morphology (HP:0011070)2.45611548
85Abnormality of molar (HP:0011077)2.45611548
86Gonadal dysgenesis (HP:0000133)2.43519932
87Premature skin wrinkling (HP:0100678)2.42489694
88Partial duplication of thumb phalanx (HP:0009944)2.42364941
89Abnormality of dentin (HP:0010299)2.41571665
90Abnormality of macular pigmentation (HP:0008002)2.41214957
91Increased purine levels (HP:0004368)2.39655167
92Hyperuricemia (HP:0002149)2.39655167
93Abnormality of the metopic suture (HP:0005556)2.39590663
94Neuroendocrine neoplasm (HP:0100634)2.39515610
95Recurrent corneal erosions (HP:0000495)2.38051980
96Insulin resistance (HP:0000855)2.34769820
97Hepatoblastoma (HP:0002884)2.34548168
98Short clavicles (HP:0000894)2.33055258
99Vacuolated lymphocytes (HP:0001922)2.31383725
100Abnormality of the nasolacrimal system (HP:0000614)2.30754588
101Increased CSF protein (HP:0002922)2.29530892
102Coronal craniosynostosis (HP:0004440)2.29233515
103Aplasia/hypoplasia of the uterus (HP:0008684)2.27429040
104Hypoplasia of the fovea (HP:0007750)2.26222493
105Aplasia/Hypoplasia of the fovea (HP:0008060)2.26222493
106Sensorimotor neuropathy (HP:0007141)2.25920548
107Abnormally folded helix (HP:0008544)2.25484829
108Gonadotropin excess (HP:0000837)2.22879077
109Morphological abnormality of the middle ear (HP:0008609)2.22647101
110Aplasia of the phalanges of the hand (HP:0009802)2.20270610
111Aplasia involving bones of the extremities (HP:0009825)2.20270610
112Aplasia involving bones of the upper limbs (HP:0009823)2.20270610
113Conjugated hyperbilirubinemia (HP:0002908)2.19216786
114Congenital glaucoma (HP:0001087)2.17236671
115Knee flexion contracture (HP:0006380)2.15781471
116Aplasia cutis congenita (HP:0001057)2.15531948
117Hypotension (HP:0002615)2.15487477
118Renal agenesis (HP:0000104)2.14890839
119Abnormality of the shoulder girdle musculature (HP:0001435)2.13983925
120Dysautonomia (HP:0002459)2.13712981
121Brushfield spots (HP:0001088)2.13477645
122Generalized hyperpigmentation (HP:0007440)2.13413356
123Median cleft lip (HP:0000161)2.12962310
124Atelectasis (HP:0100750)2.11914542
125Aplasia/Hypoplasia of the earlobes (HP:0009906)2.10181271
126Hypoplasia of the ulna (HP:0003022)2.09603548
127Hemiparesis (HP:0001269)2.07363759
1282-3 toe syndactyly (HP:0004691)2.06119837
129Abdominal distention (HP:0003270)2.06060933
130Abnormality of the intrinsic pathway (HP:0010989)2.05678010
131Hypercortisolism (HP:0001578)2.05655786
132Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.04084460
133Aplasia/Hypoplasia of the clavicles (HP:0006710)2.04045152
134Hyperphosphaturia (HP:0003109)2.01412128
135Metaphyseal irregularity (HP:0003025)2.01228058
136Cortical visual impairment (HP:0100704)2.01222085
137Protuberant abdomen (HP:0001538)2.00981360
138Hyperpituitarism (HP:0010514)2.00574626
139Partial duplication of the phalanx of hand (HP:0009999)1.98735563
140Neurofibrillary tangles (HP:0002185)1.98314882
141Abnormality of male internal genitalia (HP:0000022)1.95657733
142Limb hypertonia (HP:0002509)1.94258581
143Tracheomalacia (HP:0002779)1.93543690
144Spontaneous abortion (HP:0005268)1.92641503
145Supernumerary bones of the axial skeleton (HP:0009144)1.92429280
146Abnormality of cells of the erythroid lineage (HP:0012130)1.91127243
147Abnormality of the fovea (HP:0000493)1.90805965
148Hypocalcemia (HP:0002901)1.89937901
149Muscular hypotonia of the trunk (HP:0008936)1.86575326
150Abnormality of purine metabolism (HP:0004352)1.85951155
151Decreased central vision (HP:0007663)1.84122403
152Molar tooth sign on MRI (HP:0002419)1.83275895
153Abnormality of midbrain morphology (HP:0002418)1.83275895
154Hyperthyroidism (HP:0000836)1.83156826
155Neonatal short-limb short stature (HP:0008921)1.82997587
156Pheochromocytoma (HP:0002666)1.82301395
157Thoracolumbar scoliosis (HP:0002944)1.81442901
158Supernumerary ribs (HP:0005815)1.80200908
159Epiphyseal stippling (HP:0010655)1.79351612
160Abnormality of the middle phalanges of the toes (HP:0010183)1.78311759
161Abnormal urine phosphate concentration (HP:0012599)1.77851991
162Reticulocytopenia (HP:0001896)1.76797724
163Abnormality of the diencephalon (HP:0010662)1.76438175
164Abnormal autonomic nervous system physiology (HP:0012332)1.74290947
165Abnormality of the dental pulp (HP:0006479)1.73578041
166Skin nodule (HP:0200036)1.73454623
167Abnormality of chloride homeostasis (HP:0011422)1.72684536
168Enlarged penis (HP:0000040)1.72647261
169Type II lissencephaly (HP:0007260)1.72503088
170Abnormal delayed hypersensitivity skin test (HP:0002963)1.72372644
171Tinnitus (HP:0000360)1.70737271
172Abnormality of macrophages (HP:0004311)1.70308328
173Exocrine pancreatic insufficiency (HP:0001738)1.70259716
174Scotoma (HP:0000575)1.67788660
175Anxiety (HP:0000739)1.67009176
176Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.66654566
177Turricephaly (HP:0000262)1.66158428
178Abnormality of the distal phalanx of the thumb (HP:0009617)1.65196897
179Focal segmental glomerulosclerosis (HP:0000097)1.64855514
180Limited elbow extension (HP:0001377)1.64333212
181Cerebral inclusion bodies (HP:0100314)1.63995940
182Visual hallucinations (HP:0002367)1.62301491
183Chronic bronchitis (HP:0004469)1.62197827
184Generalized hypopigmentation of hair (HP:0011358)1.61472528
185Tetany (HP:0001281)1.60831368
186Adrenal overactivity (HP:0002717)1.58709105
187Neoplasm of the heart (HP:0100544)1.57509759
188Progressive neurologic deterioration (HP:0002344)1.56879561
189White forelock (HP:0002211)1.56259831
190Gout (HP:0001997)1.56251118
191Upper limb muscle weakness (HP:0003484)1.54223680
192Duplicated collecting system (HP:0000081)1.54178180

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK36.42468947
2TLK15.11982623
3INSRR4.79275473
4PIK3CG4.79108617
5TAOK34.73357906
6MAPK154.51004102
7FRK3.27694854
8MAP3K103.17363318
9PRKD33.01141091
10UHMK12.91593995
11WNK42.81277553
12EPHA32.51976160
13HIPK22.51801836
14STK162.02893872
15MATK2.01364046
16PASK1.98960269
17MAP3K21.91712150
18STK41.91248475
19MST41.77211595
20VRK11.76061858
21SCYL21.64774407
22EPHA21.50291235
23WNK11.38523827
24KDR1.37354352
25NEK11.35087908
26CASK1.27836398
27CAMKK21.24513982
28NTRK11.24324977
29PTK61.22176060
30SIK21.21762138
31IKBKE1.19722351
32FGFR41.15452402
33FER1.14270643
34EPHB11.12935111
35GRK11.11982884
36FLT31.11316253
37MAP2K61.10726166
38MAP3K11.10422530
39PAK31.07518422
40MAP3K61.07492967
41DDR21.05896921
42IRAK11.04767899
43PRKCH1.02603406
44RPS6KB21.02350097
45NTRK31.01285876
46MST1R1.01171046
47MAP3K71.00107771
48PDGFRA0.99917492
49PTK20.99079543
50CDC42BPA0.99034304
51TGFBR10.97773347
52MAP4K20.97689603
53PKN10.97589358
54RIPK10.97585091
55IRAK30.96981954
56LRRK20.93713020
57ZAK0.93581390
58TBK10.91495723
59ABL20.90647606
60MAP3K40.90579856
61BMX0.89764422
62FGFR30.86874893
63BMPR1B0.85233770
64PRKD20.82151503
65PRKCE0.75646948
66CLK10.74218840
67TYRO30.72871067
68CAMK10.71954066
69FES0.71258639
70CSF1R0.70401815
71MAP3K140.69897060
72PRKCD0.68614836
73MAPKAPK30.67413257
74JAK10.66858862
75NLK0.66507866
76IKBKB0.65510906
77MAP2K70.63885050
78BCKDK0.62426135
79DAPK20.62113421
80BCR0.60288114
81ALK0.60156172
82ERN10.58305659
83MARK20.56272492
84CDK30.54157132
85LATS10.51172863
86RET0.51091800
87VRK20.50997426
88MET0.49784877
89DYRK1B0.49477494
90SGK30.49464232
91OBSCN0.46234040
92NEK60.46093229
93PRKAA10.45571465
94SIK10.45534668
95PDGFRB0.44793778
96EIF2AK30.43997267
97PHKG10.43743316
98PHKG20.43743316
99PRKCA0.42919213
100RPS6KA50.42053308
101SGK4940.41763269
102SGK2230.41763269
103KIT0.41331126
104NTRK20.40876993
105MAP3K80.40059262
106DYRK30.39685010
107MAPK10.38047456
108PRKCI0.37666732
109ICK0.37027217
110NUAK10.37004924
111CSNK2A10.36267163
112INSR0.36182959
113CAMK2D0.35554288
114GSK3A0.34169104
115PRKG20.33601125
116PRKD10.31921240
117CHEK20.31822587
118PRKACB0.31177390
119DAPK30.31066764
120FGR0.31058193
121STK38L0.30517839
122AURKB0.29965033
123STK240.29475674
124TRIB30.28626261
125SIK30.27839515
126SGK10.27211377
127MAPKAPK20.27067469
128LYN0.26414246
129CHUK0.25885996
130DYRK20.25687143
131MAPK30.25660686
132CSK0.25617111
133PRKCQ0.25097701
134CAMK2B0.24993830
135MTOR0.24880614
136ERBB20.24675156
137PRKAA20.24617403
138JAK30.24228130
139PRKACA0.24064931
140KSR20.23968733
141TEC0.23734574
142PDPK10.23723629
143MAPK100.23720333
144JAK20.23496765
145IGF1R0.23495522
146CDK50.23298187
147CSNK1G20.23261103
148BRD40.23065364
149FGFR10.22500904
150RPS6KB10.22353625
151DYRK1A0.22314958
152ADRBK20.21799155
153SGK20.20838681
154FGFR20.20515452
155PDK10.19633707
156PRKG10.19457749
157CAMK2A0.19405918
158ADRBK10.19306321
159MAP2K10.19148595
160ITK0.19117457

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049507.69068608
2Fatty acid elongation_Homo sapiens_hsa000624.25016430
3Insulin secretion_Homo sapiens_hsa049113.81628901
4Protein export_Homo sapiens_hsa030603.70813410
5Ribosome_Homo sapiens_hsa030103.19148325
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.13761527
7Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007603.01712852
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.80020824
9Type I diabetes mellitus_Homo sapiens_hsa049402.76110053
10Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.34894819
11Glycerolipid metabolism_Homo sapiens_hsa005612.33886254
12Type II diabetes mellitus_Homo sapiens_hsa049302.33289530
13Histidine metabolism_Homo sapiens_hsa003402.30189931
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.27189192
15Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.24479483
16Primary bile acid biosynthesis_Homo sapiens_hsa001202.12619909
17Glycosaminoglycan degradation_Homo sapiens_hsa005312.06179579
18Peroxisome_Homo sapiens_hsa041461.94412354
19Cocaine addiction_Homo sapiens_hsa050301.83166796
20Vibrio cholerae infection_Homo sapiens_hsa051101.80260718
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.79502286
22Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.72250411
23TGF-beta signaling pathway_Homo sapiens_hsa043501.65839061
24Vitamin B6 metabolism_Homo sapiens_hsa007501.65063336
25Nucleotide excision repair_Homo sapiens_hsa034201.59722068
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.53247533
27Sulfur metabolism_Homo sapiens_hsa009201.47838878
28Glucagon signaling pathway_Homo sapiens_hsa049221.42911499
29Pancreatic secretion_Homo sapiens_hsa049721.42870618
30Circadian entrainment_Homo sapiens_hsa047131.39096960
31Glutathione metabolism_Homo sapiens_hsa004801.37814170
32Amphetamine addiction_Homo sapiens_hsa050311.36937157
33N-Glycan biosynthesis_Homo sapiens_hsa005101.35845027
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.35385242
35Retinol metabolism_Homo sapiens_hsa008301.33832219
36Transcriptional misregulation in cancer_Homo sapiens_hsa052021.32625698
37Carbohydrate digestion and absorption_Homo sapiens_hsa049731.31552354
38Taste transduction_Homo sapiens_hsa047421.30972697
39Cholinergic synapse_Homo sapiens_hsa047251.30225963
40Other glycan degradation_Homo sapiens_hsa005111.29301734
41Oxidative phosphorylation_Homo sapiens_hsa001901.29186753
42Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.28656236
43Lysosome_Homo sapiens_hsa041421.28364916
44Thyroid hormone synthesis_Homo sapiens_hsa049181.27274919
45Fatty acid degradation_Homo sapiens_hsa000711.26044403
46Regulation of autophagy_Homo sapiens_hsa041401.25314081
47Cyanoamino acid metabolism_Homo sapiens_hsa004601.23979372
48GABAergic synapse_Homo sapiens_hsa047271.23482799
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.21214905
50Morphine addiction_Homo sapiens_hsa050321.20794253
51Linoleic acid metabolism_Homo sapiens_hsa005911.18237724
52Mineral absorption_Homo sapiens_hsa049781.17687245
53Phototransduction_Homo sapiens_hsa047441.17060809
54SNARE interactions in vesicular transport_Homo sapiens_hsa041301.16005393
55Estrogen signaling pathway_Homo sapiens_hsa049151.15996312
56Arginine and proline metabolism_Homo sapiens_hsa003301.15483638
57Prion diseases_Homo sapiens_hsa050201.12288709
58Renin secretion_Homo sapiens_hsa049241.12157560
59Renin-angiotensin system_Homo sapiens_hsa046141.09679495
60Dopaminergic synapse_Homo sapiens_hsa047281.09388780
61Serotonergic synapse_Homo sapiens_hsa047261.08190404
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.08062755
63Chemical carcinogenesis_Homo sapiens_hsa052041.06314160
64Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.05849057
65ABC transporters_Homo sapiens_hsa020101.05282486
66Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.04975517
67beta-Alanine metabolism_Homo sapiens_hsa004101.04060274
68Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.00478790
69Protein digestion and absorption_Homo sapiens_hsa049740.99653037
70Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.99575244
71Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99445946
72Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.97280821
73Ovarian steroidogenesis_Homo sapiens_hsa049130.93953384
74Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.93924626
75Melanogenesis_Homo sapiens_hsa049160.93678738
76Ether lipid metabolism_Homo sapiens_hsa005650.93446922
77Glutamatergic synapse_Homo sapiens_hsa047240.93237035
78Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.92713287
79* Vascular smooth muscle contraction_Homo sapiens_hsa042700.91240080
80cAMP signaling pathway_Homo sapiens_hsa040240.89882054
81Systemic lupus erythematosus_Homo sapiens_hsa053220.89127439
82Dorso-ventral axis formation_Homo sapiens_hsa043200.87914084
83Thyroid cancer_Homo sapiens_hsa052160.87515547
84Gastric acid secretion_Homo sapiens_hsa049710.85786483
85Leishmaniasis_Homo sapiens_hsa051400.84526124
86Salivary secretion_Homo sapiens_hsa049700.83517340
87Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.80681132
88Gap junction_Homo sapiens_hsa045400.79800782
89Synaptic vesicle cycle_Homo sapiens_hsa047210.79781968
90Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79358822
91Long-term depression_Homo sapiens_hsa047300.79260100
92Pyruvate metabolism_Homo sapiens_hsa006200.76236900
93Galactose metabolism_Homo sapiens_hsa000520.75544877
94Intestinal immune network for IgA production_Homo sapiens_hsa046720.74822954
95cGMP-PKG signaling pathway_Homo sapiens_hsa040220.72953686
96Asthma_Homo sapiens_hsa053100.72397551
97Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71893975
98Insulin resistance_Homo sapiens_hsa049310.71571393
99Fatty acid metabolism_Homo sapiens_hsa012120.70410459
100African trypanosomiasis_Homo sapiens_hsa051430.70175336
101Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69133087
102Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.68849907
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.68374890
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.68075017
105Inositol phosphate metabolism_Homo sapiens_hsa005620.66986588
106Long-term potentiation_Homo sapiens_hsa047200.66560402
107Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.60617248
108Base excision repair_Homo sapiens_hsa034100.60183859
109Longevity regulating pathway - mammal_Homo sapiens_hsa042110.60172577
110Circadian rhythm_Homo sapiens_hsa047100.59242980
111Prolactin signaling pathway_Homo sapiens_hsa049170.58585278
112Metabolic pathways_Homo sapiens_hsa011000.58192968
113Selenocompound metabolism_Homo sapiens_hsa004500.57015152
114Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.56224632
115Fat digestion and absorption_Homo sapiens_hsa049750.56048303
116Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55940081
117Allograft rejection_Homo sapiens_hsa053300.55864157
118GnRH signaling pathway_Homo sapiens_hsa049120.55381333
119Folate biosynthesis_Homo sapiens_hsa007900.54096295
120NOD-like receptor signaling pathway_Homo sapiens_hsa046210.53775836
121Oxytocin signaling pathway_Homo sapiens_hsa049210.53306851
122Propanoate metabolism_Homo sapiens_hsa006400.52904544
123Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52164591
124Steroid hormone biosynthesis_Homo sapiens_hsa001400.50935025
125Vitamin digestion and absorption_Homo sapiens_hsa049770.50146707
126Parkinsons disease_Homo sapiens_hsa050120.48985205
127Insulin signaling pathway_Homo sapiens_hsa049100.48376853
128Tryptophan metabolism_Homo sapiens_hsa003800.46720848
129Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.45467286
130Salmonella infection_Homo sapiens_hsa051320.45445407
131Huntingtons disease_Homo sapiens_hsa050160.45336742
132Starch and sucrose metabolism_Homo sapiens_hsa005000.44049148
133Sphingolipid metabolism_Homo sapiens_hsa006000.43208096
134Malaria_Homo sapiens_hsa051440.42645617
135* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42274728
136Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42007206
137Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39050633
138Toxoplasmosis_Homo sapiens_hsa051450.37556648
139Olfactory transduction_Homo sapiens_hsa047400.37408664
140* Calcium signaling pathway_Homo sapiens_hsa040200.36835905
141Cysteine and methionine metabolism_Homo sapiens_hsa002700.36565902
142Purine metabolism_Homo sapiens_hsa002300.35979950
143AMPK signaling pathway_Homo sapiens_hsa041520.35889396
144Dilated cardiomyopathy_Homo sapiens_hsa054140.35504252
145Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35200884
146mTOR signaling pathway_Homo sapiens_hsa041500.34308151
147Amoebiasis_Homo sapiens_hsa051460.33490448
148Graft-versus-host disease_Homo sapiens_hsa053320.33174805
149Notch signaling pathway_Homo sapiens_hsa043300.31553102
150Wnt signaling pathway_Homo sapiens_hsa043100.30183002
151NF-kappa B signaling pathway_Homo sapiens_hsa040640.29540814
152Arachidonic acid metabolism_Homo sapiens_hsa005900.29246559
153Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29187340
154Lysine degradation_Homo sapiens_hsa003100.28607152
155RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.28046807
156Nicotine addiction_Homo sapiens_hsa050330.27359538
157Bile secretion_Homo sapiens_hsa049760.27276194
158Butanoate metabolism_Homo sapiens_hsa006500.27020814
159Hematopoietic cell lineage_Homo sapiens_hsa046400.26649372
160Collecting duct acid secretion_Homo sapiens_hsa049660.25265820
161Nitrogen metabolism_Homo sapiens_hsa009100.23265944
162Ras signaling pathway_Homo sapiens_hsa040140.23060365
163Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.22817395
164Autoimmune thyroid disease_Homo sapiens_hsa053200.22319399
165Platelet activation_Homo sapiens_hsa046110.22311461
166Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.21769146
167Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21767416
168Alcoholism_Homo sapiens_hsa050340.20328883

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