GPR78

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 belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to follicle-stimulating hormone (GO:0032354)7.39125861
2female pregnancy (GO:0007565)7.24092598
3glucocorticoid biosynthetic process (GO:0006704)6.60119162
4estrogen metabolic process (GO:0008210)6.39090089
5prostate gland growth (GO:0060736)6.25045711
6regulation of gonadotropin secretion (GO:0032276)5.99088593
7androgen biosynthetic process (GO:0006702)5.71805687
8multi-multicellular organism process (GO:0044706)5.17152799
9bone trabecula formation (GO:0060346)4.88578252
10androgen metabolic process (GO:0008209)4.68628333
11endocrine hormone secretion (GO:0060986)4.58231376
12multi-organism reproductive process (GO:0044703)4.57974362
13branching involved in salivary gland morphogenesis (GO:0060445)4.52188293
14paraxial mesoderm development (GO:0048339)4.48753722
15syncytium formation (GO:0006949)3.83516650
16positive regulation of protein kinase C signaling (GO:0090037)3.82186053
17eyelid development in camera-type eye (GO:0061029)3.68470213
18vitamin transmembrane transport (GO:0035461)3.66960969
19response to gonadotropin (GO:0034698)3.62768293
20collecting duct development (GO:0072044)3.58740271
21negative regulation of activin receptor signaling pathway (GO:0032926)3.57680084
22myoblast fusion (GO:0007520)3.53733931
23bone morphogenesis (GO:0060349)3.53018170
24planar cell polarity pathway involved in neural tube closure (GO:0090179)3.52086754
25glucocorticoid metabolic process (GO:0008211)3.51585253
26lymphangiogenesis (GO:0001946)3.50094306
27vascular endothelial growth factor signaling pathway (GO:0038084)3.45720282
28hippo signaling (GO:0035329)3.45249985
29hormone biosynthetic process (GO:0042446)3.44037701
30desmosome organization (GO:0002934)3.37798618
31anterior/posterior axis specification, embryo (GO:0008595)3.37547286
32polarized epithelial cell differentiation (GO:0030859)3.37309875
33positive regulation of growth hormone secretion (GO:0060124)3.34286174
34adherens junction assembly (GO:0034333)3.27210802
35regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.23398118
36syncytium formation by plasma membrane fusion (GO:0000768)3.15691650
37vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.14338633
38L-alpha-amino acid transmembrane transport (GO:1902475)3.14185229
39positive regulation of SMAD protein import into nucleus (GO:0060391)3.07245608
40cell-cell junction maintenance (GO:0045217)3.05944210
41cytoskeletal anchoring at plasma membrane (GO:0007016)3.03449691
42focal adhesion assembly (GO:0048041)3.02457001
43cell-substrate adherens junction assembly (GO:0007045)3.02457001
44regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.98526400
45asymmetric protein localization (GO:0008105)2.96716289
46establishment or maintenance of bipolar cell polarity (GO:0061245)2.95776706
47establishment or maintenance of apical/basal cell polarity (GO:0035088)2.95776706
48bundle of His cell to Purkinje myocyte communication (GO:0086069)2.94835214
49citrulline biosynthetic process (GO:0019240)2.93010428
50mesonephros development (GO:0001823)2.86853800
51regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.86286839
52regulation of hippo signaling (GO:0035330)2.85835018
53basement membrane organization (GO:0071711)2.83430202
54cell migration involved in gastrulation (GO:0042074)2.80807395
55epithelial cell-cell adhesion (GO:0090136)2.79242798
56establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.78939076
57regulation of transforming growth factor beta2 production (GO:0032909)2.78096202
58apical protein localization (GO:0045176)2.76368178
59regulation of G0 to G1 transition (GO:0070316)2.66653603
60branching involved in labyrinthine layer morphogenesis (GO:0060670)2.66022319
61sprouting angiogenesis (GO:0002040)2.65563899
62non-canonical Wnt signaling pathway (GO:0035567)2.64507768
63embryonic foregut morphogenesis (GO:0048617)2.62073351
64insulin-like growth factor receptor signaling pathway (GO:0048009)2.61307946
65notochord development (GO:0030903)2.60900974
66lymph vessel development (GO:0001945)2.59399454
67outflow tract septum morphogenesis (GO:0003148)2.58896713
68regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.57670114
69lung-associated mesenchyme development (GO:0060484)2.57414296
70pre-miRNA processing (GO:0031054)2.56606497
71gap junction assembly (GO:0016264)2.56077322
72positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.55526480
73regulation of acrosome reaction (GO:0060046)2.53859216
74regulation of growth hormone secretion (GO:0060123)2.53235942
75C21-steroid hormone biosynthetic process (GO:0006700)2.51629947
76negative regulation of cell fate specification (GO:0009996)2.51295420
77embryonic forelimb morphogenesis (GO:0035115)2.49156109
78cell junction maintenance (GO:0034331)2.47926746
79regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.47319096
80tooth mineralization (GO:0034505)2.45337854
81negative regulation of organ growth (GO:0046621)2.44211421
82positive regulation of blood vessel endothelial cell migration (GO:0043536)2.43645919
83positive regulation of hormone biosynthetic process (GO:0046886)2.42891825
84positive regulation of hormone metabolic process (GO:0032352)2.42700598
85Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.42663506
86phosphate ion transmembrane transport (GO:0035435)2.41168777
87ear development (GO:0043583)2.39544235
88cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.38713030
89trabecula formation (GO:0060343)2.37441726
90endothelial cell morphogenesis (GO:0001886)2.37126437
91sphingoid metabolic process (GO:0046519)2.34786522
92regulation of posttranscriptional gene silencing (GO:0060147)2.34747570
93regulation of gene silencing by miRNA (GO:0060964)2.34747570
94regulation of gene silencing by RNA (GO:0060966)2.34747570
95thyroid gland development (GO:0030878)2.34640855
96response to lipoprotein particle (GO:0055094)2.34033543
97oocyte development (GO:0048599)2.32798981
98positive regulation of catenin import into nucleus (GO:0035413)2.32675769
99surfactant homeostasis (GO:0043129)2.31802243
100estrogen biosynthetic process (GO:0006703)14.8397517

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human5.61545587
2ESR2_21235772_ChIP-Seq_MCF-7_Human3.31231177
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.03737305
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.03737305
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.03737305
6TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.95226036
7ESR1_21235772_ChIP-Seq_MCF-7_Human2.94944157
8TRIM28_21343339_ChIP-Seq_HEK293_Human2.89352059
9PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.74000723
10ZNF263_19887448_ChIP-Seq_K562_Human2.67683020
11TP63_17297297_ChIP-ChIP_HaCaT_Human2.60303823
12STAT6_21828071_ChIP-Seq_BEAS2B_Human2.57614168
13AHR_22903824_ChIP-Seq_MCF-7_Human2.29990482
14PPAR_26484153_Chip-Seq_NCI-H1993_Human2.17859292
15ESR1_20079471_ChIP-ChIP_T-47D_Human2.08626853
16ZNF217_24962896_ChIP-Seq_MCF-7_Human2.06321213
17EGR1_19032775_ChIP-ChIP_M12_Human2.06293054
18RARG_19884340_ChIP-ChIP_MEFs_Mouse2.01516569
19ESR1_15608294_ChIP-ChIP_MCF-7_Human1.99706538
20TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.96300901
21SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.89210031
22RACK7_27058665_Chip-Seq_MCF-7_Human1.87008139
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.86174841
24RNF2_18974828_ChIP-Seq_MESCs_Mouse1.80251726
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.80251726
26ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.78978741
27KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.75450723
28ARNT_22903824_ChIP-Seq_MCF-7_Human1.72976437
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.65732308
30NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.64636443
31ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.64012531
32AR_21909140_ChIP-Seq_LNCAP_Human1.61385603
33P63_26484246_Chip-Seq_KERATINOCYTES_Human1.58529025
34ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.56756495
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50091424
36TP53_20018659_ChIP-ChIP_R1E_Mouse1.48238254
37ISL1_27105846_Chip-Seq_CPCs_Mouse1.44895131
38FOXO3_23340844_ChIP-Seq_DLD1_Human1.42991865
39SOX9_24532713_ChIP-Seq_HFSC_Mouse1.42806546
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42223924
41CLOCK_20551151_ChIP-Seq_293T_Human1.36522045
42EZH2_22144423_ChIP-Seq_EOC_Human1.36433823
43ERG_21242973_ChIP-ChIP_JURKAT_Human1.34825393
44EP300_21415370_ChIP-Seq_HL-1_Mouse1.34029432
45WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.32743893
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.32624904
47FOXM1_23109430_ChIP-Seq_U2OS_Human1.31707260
48KDM2B_26808549_Chip-Seq_K562_Human1.30875378
49RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.30683656
50SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.29944818
51KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.29513330
52* RUNX1_27514584_Chip-Seq_MCF-7_Human1.28814591
53EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28687907
54SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.28564567
55SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.28564567
56TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.28032186
57* GATA3_24758297_ChIP-Seq_MCF-7_Human1.27328770
58HIF1A_21447827_ChIP-Seq_MCF-7_Human1.25130295
59RNF2_27304074_Chip-Seq_ESCs_Mouse1.19958960
60JARID2_20075857_ChIP-Seq_MESCs_Mouse1.19455503
61TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18244768
62ELK3_25401928_ChIP-Seq_HUVEC_Human1.18107408
63SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.17450663
64CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.17021458
65ZFP281_18757296_ChIP-ChIP_E14_Mouse1.16691531
66* SMAD3_21741376_ChIP-Seq_HESCs_Human1.16635112
67LXR_22292898_ChIP-Seq_THP-1_Human1.16083306
68SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.15699558
69SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.15336253
70NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.14837379
71PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14749490
72TCF3_18692474_ChIP-Seq_MEFs_Mouse1.14558988
73EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.13462972
74PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13016416
75TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.12642923
76BRD4_25478319_ChIP-Seq_HGPS_Human1.11407564
77TP63_22573176_ChIP-Seq_HFKS_Human1.09820942
78ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08106334
79TCF3_18692474_ChIP-Seq_MESCs_Mouse1.07160630
80HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.07139976
81EZH2_27304074_Chip-Seq_ESCs_Mouse1.06719585
82PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.05905060
83TP63_19390658_ChIP-ChIP_HaCaT_Human1.05108501
84CTCF_27219007_Chip-Seq_ERYTHROID_Human1.04930097
85TBX3_20139965_ChIP-Seq_ESCs_Mouse1.03701229
86TBX3_20139965_ChIP-Seq_MESCs_Mouse1.03303618
87UBF1/2_26484160_Chip-Seq_HMECs_Human1.02942805
88P300_27058665_Chip-Seq_ZR-75-30cells_Human1.02242795
89E2F7_22180533_ChIP-Seq_HELA_Human0.99671119
90* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99607889
91CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.97477213
92GATA6_25053715_ChIP-Seq_YYC3_Human0.96980023
93KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.96617785
94POU5F1_16518401_ChIP-PET_MESCs_Mouse0.96020701
95KLF4_19829295_ChIP-Seq_ESCs_Human0.95935276
96TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.95651693
97JARID2_20064375_ChIP-Seq_MESCs_Mouse0.95248791
98TP53_18474530_ChIP-ChIP_U2OS_Human0.94947523
99ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94899828
100SOX2_20726797_ChIP-Seq_SW620_Human0.93378337

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009697_abnormal_copulation5.03063131
2MP0003941_abnormal_skin_development2.99196781
3MP0003705_abnormal_hypodermis_morpholog2.95742678
4MP0002163_abnormal_gland_morphology2.81760056
5MP0004272_abnormal_basement_membrane2.78251417
6MP0010234_abnormal_vibrissa_follicle2.57059486
7MP0008438_abnormal_cutaneous_collagen2.55385861
8MP0000003_abnormal_adipose_tissue2.41871859
9MP0000013_abnormal_adipose_tissue2.40011861
10MP0005076_abnormal_cell_differentiation2.39064365
11MP0010368_abnormal_lymphatic_system2.37451813
12MP0010030_abnormal_orbit_morphology2.16033381
13MP0004185_abnormal_adipocyte_glucose2.09406047
14MP0005023_abnormal_wound_healing1.98644332
15MP0004264_abnormal_extraembryonic_tissu1.97629117
16MP0003283_abnormal_digestive_organ1.95963066
17MP0005503_abnormal_tendon_morphology1.94034849
18MP0000516_abnormal_urinary_system1.91744982
19MP0005367_renal/urinary_system_phenotyp1.91744982
20MP0005647_abnormal_sex_gland1.89641990
21MP0010386_abnormal_urinary_bladder1.86305736
22MP0000534_abnormal_ureter_morphology1.82175049
23MP0000537_abnormal_urethra_morphology1.78036710
24MP0001849_ear_inflammation1.66420589
25MP0006276_abnormal_autonomic_nervous1.63953882
26MP0005379_endocrine/exocrine_gland_phen1.62960819
27MP0003566_abnormal_cell_adhesion1.60222716
28MP0003936_abnormal_reproductive_system1.59126684
29MP0009780_abnormal_chondrocyte_physiolo1.56903962
30MP0006138_congestive_heart_failure1.56511175
31MP0001919_abnormal_reproductive_system1.54413253
32MP0010352_gastrointestinal_tract_polyps1.49164883
33MP0000049_abnormal_middle_ear1.45812740
34MP0005275_abnormal_skin_tensile1.45392484
35MP0003878_abnormal_ear_physiology1.44980931
36MP0005377_hearing/vestibular/ear_phenot1.44980931
37MP0003890_abnormal_embryonic-extraembry1.44780498
38MP0002108_abnormal_muscle_morphology1.43882859
39MP0005389_reproductive_system_phenotype1.41933947
40MP0002796_impaired_skin_barrier1.40183571
41MP0002254_reproductive_system_inflammat1.34904917
42MP0003937_abnormal_limbs/digits/tail_de1.31529348
43MP0003385_abnormal_body_wall1.30582756
44MP0002160_abnormal_reproductive_system1.29297547
45MP0003453_abnormal_keratinocyte_physiol1.28539889
46MP0000762_abnormal_tongue_morphology1.24824394
47MP0003718_maternal_effect1.23682533
48MP0005375_adipose_tissue_phenotype1.21763296
49MP0003119_abnormal_digestive_system1.20942456
50MP0003942_abnormal_urinary_system1.20612665
51MP0003959_abnormal_lean_body1.18627430
52MP0004233_abnormal_muscle_weight1.14142395
53MP0004858_abnormal_nervous_system1.13193870
54MP0000647_abnormal_sebaceous_gland1.12848601
55MP0005257_abnormal_intraocular_pressure1.11225565
56MP0009703_decreased_birth_body1.09086693
57MP0009115_abnormal_fat_cell1.09043066
58MP0002086_abnormal_extraembryonic_tissu1.08961282
59MP0000428_abnormal_craniofacial_morphol1.07527145
60MP0009250_abnormal_appendicular_skeleto1.07200361
61MP0002249_abnormal_larynx_morphology1.07019908
62MP0000566_synostosis1.06867743
63MP0002098_abnormal_vibrissa_morphology1.05680278
64MP0010678_abnormal_skin_adnexa1.04181055
65MP0003315_abnormal_perineum_morphology1.02257096
66MP0002697_abnormal_eye_size1.00740247
67MP0000383_abnormal_hair_follicle1.00191012
68MP0003699_abnormal_female_reproductive0.98932290
69MP0001958_emphysema0.98682537
70MP0001661_extended_life_span0.97364638
71MP0006054_spinal_hemorrhage0.97305950
72MP0000627_abnormal_mammary_gland0.97183255
73MP0002084_abnormal_developmental_patter0.96081731
74MP0000613_abnormal_salivary_gland0.95316857
75MP0002060_abnormal_skin_morphology0.94720777
76MP0001756_abnormal_urination0.94535497
77MP0003935_abnormal_craniofacial_develop0.93626628
78MP0004019_abnormal_vitamin_homeostasis0.92238843
79MP0003115_abnormal_respiratory_system0.91969259
80MP0003693_abnormal_embryo_hatching0.90273369
81MP0001730_embryonic_growth_arrest0.90077545
82MP0003950_abnormal_plasma_membrane0.89350620
83MP0003136_yellow_coat_color0.88077308
84MP0001340_abnormal_eyelid_morphology0.87760372
85MP0002876_abnormal_thyroid_physiology0.86721652
86MP0005380_embryogenesis_phenotype0.85354706
87MP0001672_abnormal_embryogenesis/_devel0.85354706
88MP0005508_abnormal_skeleton_morphology0.85140501
89MP0005646_abnormal_pituitary_gland0.84618149
90MP0004782_abnormal_surfactant_physiolog0.82253373
91MP0002085_abnormal_embryonic_tissue0.81860231
92MP0000377_abnormal_hair_follicle0.81665807
93MP0009672_abnormal_birth_weight0.81299525
94MP0000681_abnormal_thyroid_gland0.81252648
95MP0002653_abnormal_ependyma_morphology0.80953989
96MP0000462_abnormal_digestive_system0.80478503
97MP0000432_abnormal_head_morphology0.80364587
98MP0004133_heterotaxia0.80174914
99MP0005501_abnormal_skin_physiology0.78607784
100MP0005623_abnormal_meninges_morphology0.78506402

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)4.11072180
2Capillary hemangiomas (HP:0005306)3.79271338
3Protrusio acetabuli (HP:0003179)3.58700541
4Hypergonadotropic hypogonadism (HP:0000815)3.39493961
5Aortic aneurysm (HP:0004942)3.23893813
6Morphological abnormality of the middle ear (HP:0008609)2.91458412
7Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.87386664
8Shallow orbits (HP:0000586)2.86238041
9Lip pit (HP:0100267)2.86148248
10Fibular aplasia (HP:0002990)2.80674884
11Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.78024957
12Ankle contracture (HP:0006466)2.72002765
13Right ventricular cardiomyopathy (HP:0011663)2.71904518
14Abnormality of the pubic bones (HP:0003172)2.68485928
15Disproportionate tall stature (HP:0001519)2.62057873
16Coronal craniosynostosis (HP:0004440)2.52692186
17Aortic dissection (HP:0002647)2.51682093
18Cervical subluxation (HP:0003308)2.51614517
19Aplasia involving forearm bones (HP:0009822)2.51571133
20Absent forearm bone (HP:0003953)2.51571133
21Broad metatarsal (HP:0001783)2.51114694
22Bilateral microphthalmos (HP:0007633)2.44942782
23Ectopic kidney (HP:0000086)2.43723722
24Sparse lateral eyebrow (HP:0005338)2.42177185
25Long palpebral fissure (HP:0000637)2.40954396
26Fragile skin (HP:0001030)2.38595642
27Nonimmune hydrops fetalis (HP:0001790)2.34865583
28Back pain (HP:0003418)2.33503500
29Wrist flexion contracture (HP:0001239)2.33240422
30Choanal stenosis (HP:0000452)2.32014416
31Aplasia of the musculature (HP:0100854)2.21330692
32Chromosomal breakage induced by crosslinking agents (HP:0003221)2.20017123
33High anterior hairline (HP:0009890)2.19216564
34Humeroradial synostosis (HP:0003041)2.19161107
35Synostosis involving the elbow (HP:0003938)2.19161107
36Duplication of thumb phalanx (HP:0009942)2.18994024
37Hypoplastic nipples (HP:0002557)2.15959353
38Bicornuate uterus (HP:0000813)2.12468618
39Short humerus (HP:0005792)2.12286815
40Upper limb muscle weakness (HP:0003484)2.11753613
41Short 1st metacarpal (HP:0010034)2.11472736
42Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.11472736
43Breast hypoplasia (HP:0003187)2.10786119
44Absent radius (HP:0003974)2.09778237
45Wormian bones (HP:0002645)2.08951611
46Chromsome breakage (HP:0040012)2.08875685
47Cutaneous finger syndactyly (HP:0010554)2.06229194
48Hypoplastic scapulae (HP:0000882)2.06186565
49Aplasia/Hypoplasia of the scapulae (HP:0006713)2.06186565
50Long clavicles (HP:0000890)2.02399875
51Skull defect (HP:0001362)2.00826087
52Abnormal auditory evoked potentials (HP:0006958)2.00790292
53Ulnar bowing (HP:0003031)1.97934812
54Absent eyelashes (HP:0000561)1.97017276
55Elbow flexion contracture (HP:0002987)1.96924406
56Lymphangioma (HP:0100764)1.96749464
57Blue sclerae (HP:0000592)1.96513681
58Fused cervical vertebrae (HP:0002949)1.96379103
59Carpal bone hypoplasia (HP:0001498)1.94684534
60Partial duplication of the phalanx of hand (HP:0009999)1.93352610
61Flat acetabular roof (HP:0003180)1.92620868
62Abnormality of the lacrimal duct (HP:0011481)1.90143627
63Abnormality of the aortic arch (HP:0012303)1.89422662
64Abnormality of the humerus (HP:0003063)1.87695762
65Anal stenosis (HP:0002025)1.87555466
66Tarsal synostosis (HP:0008368)1.87491012
67Aplasia/hypoplasia of the humerus (HP:0006507)1.87086126
68Partial duplication of thumb phalanx (HP:0009944)1.86929747
69Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.84905049
70Abnormality of the upper arm (HP:0001454)1.84462512
71Split foot (HP:0001839)1.84112648
72Long eyelashes (HP:0000527)1.82722596
73Cutaneous syndactyly (HP:0012725)1.82230142
74Abnormality of the nasolacrimal system (HP:0000614)1.80119510
75Abnormality of the ischium (HP:0003174)1.80087512
76Abnormality of the 1st metacarpal (HP:0010009)1.78612815
77Thin ribs (HP:0000883)1.77526360
78Spinal rigidity (HP:0003306)1.75477798
79Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.75117110
80Soft skin (HP:0000977)1.73686762
81Carpal synostosis (HP:0009702)1.72061220
82Achilles tendon contracture (HP:0001771)1.71310364
83Synostosis involving bones of the lower limbs (HP:0009138)1.70174762
84Synostosis involving bones of the feet (HP:0009140)1.70174762
85Polygenic inheritance (HP:0010982)1.68674860
86Bowing of the arm (HP:0006488)1.68306751
87Bowed forearm bones (HP:0003956)1.68306751
88Hypoplastic labia majora (HP:0000059)1.67387104
89Tongue fasciculations (HP:0001308)1.66790484
90Muscle fibrillation (HP:0010546)1.66587689
91Genu valgum (HP:0002857)1.65984068
92Gynecomastia (HP:0000771)1.65868916
93Aplasia involving bones of the upper limbs (HP:0009823)1.64130098
94Aplasia of the phalanges of the hand (HP:0009802)1.64130098
95Aplasia involving bones of the extremities (HP:0009825)1.64130098
96Abnormality of the labia majora (HP:0012881)1.64020083
97Abnormality of the distal phalanges of the toes (HP:0010182)1.64019827
98Abnormality of the salivary glands (HP:0010286)1.63951959
99Ectopia lentis (HP:0001083)1.62955939
100Oligodactyly (hands) (HP:0001180)1.62096247

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA4.28864980
2LATS13.96714393
3KDR3.84376178
4EPHA23.65026515
5AKT33.63122400
6ICK2.86766715
7LATS22.61921851
8MYLK2.55150350
9CDK122.52195862
10SMG12.38771363
11EEF2K2.24383357
12TRIB32.23447914
13MET2.18552857
14MAP3K92.09634006
15RIPK11.67467517
16PTK21.61353817
17NME11.53113565
18RPS6KA21.52804376
19MELK1.52675707
20MAP3K101.52532853
21MAP3K71.50696746
22CDK91.50623142
23DAPK31.48382027
24DAPK21.46178878
25MTOR1.40957989
26STK38L1.39214638
27ARAF1.33913309
28STK31.32736069
29NME21.29733214
30PDGFRB1.25610117
31PAK21.24768066
32MST1R1.23665449
33MST41.18694683
34STK381.14548516
35CDC42BPA1.14510231
36ERBB41.10681794
37PRKD21.00152486
38RPS6KC10.98429810
39RPS6KL10.98429810
40ILK0.97868230
41MAP2K10.97080113
42RPS6KB20.96567554
43BRAF0.94097558
44PKN10.94054775
45STK240.93548988
46TTK0.92054256
47CDK80.90303039
48RPS6KA60.89406236
49NEK20.89300568
50CDK70.87869743
51TTN0.82751139
52DDR20.81401076
53PINK10.81379933
54AURKB0.80747257
55NEK90.80434914
56NTRK10.79293013
57BMX0.73433929
58PRKG20.72816776
59TYRO30.72181893
60PRKCI0.71621112
61DAPK10.70368766
62AKT20.69200669
63MAPKAPK30.67507390
64PDPK10.66040832
65CAMK1D0.64812056
66MAP3K130.64741174
67AURKA0.63318326
68PAK40.62618857
69MARK20.62456557
70PBK0.61375668
71PKN20.58217827
72ROCK20.55852484
73RPS6KA10.49038174
74SIK10.47470336
75PAK10.46324261
76CAMK2G0.46118562
77TRPM70.45459125
78EGFR0.43388438
79ERBB20.43311746
80CAMK1G0.42469662
81TGFBR10.41191360
82BRD40.41182222
83MAP3K80.40584720
84PTK60.39259240
85PRKD10.38034160
86CHEK20.37773321
87CDC70.37589981
88DMPK0.36733085
89MAPK10.36163268
90SRC0.35774141
91TIE10.34236555
92CHEK10.33610531
93WEE10.33087069
94NEK60.32617914
95GSK3A0.32193064
96INSR0.28305163
97FGFR10.27367654
98TAOK10.24986532
99FGFR40.24435452
100MAPK110.24294030

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049135.26419036
2Steroid hormone biosynthesis_Homo sapiens_hsa001403.68693307
3Folate biosynthesis_Homo sapiens_hsa007902.49616257
4ECM-receptor interaction_Homo sapiens_hsa045122.15419648
5Basal cell carcinoma_Homo sapiens_hsa052172.04317401
6Thyroid cancer_Homo sapiens_hsa052162.01521351
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.84740407
8Hippo signaling pathway_Homo sapiens_hsa043901.83696863
9Adherens junction_Homo sapiens_hsa045201.72019344
10Focal adhesion_Homo sapiens_hsa045101.71676007
11Hedgehog signaling pathway_Homo sapiens_hsa043401.70237089
12Bladder cancer_Homo sapiens_hsa052191.69097380
13PI3K-Akt signaling pathway_Homo sapiens_hsa041511.65051458
14Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.57516409
15Galactose metabolism_Homo sapiens_hsa000521.57264322
16Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.52314374
17TGF-beta signaling pathway_Homo sapiens_hsa043501.51480808
18Proteoglycans in cancer_Homo sapiens_hsa052051.47977172
19Tight junction_Homo sapiens_hsa045301.40168566
20Wnt signaling pathway_Homo sapiens_hsa043101.33238440
21N-Glycan biosynthesis_Homo sapiens_hsa005101.30071975
22Small cell lung cancer_Homo sapiens_hsa052221.22621021
23Protein digestion and absorption_Homo sapiens_hsa049741.22373105
24Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.21009170
25MicroRNAs in cancer_Homo sapiens_hsa052061.18648555
26Cell cycle_Homo sapiens_hsa041101.18535748
27Longevity regulating pathway - mammal_Homo sapiens_hsa042111.17167030
28Melanoma_Homo sapiens_hsa052181.17067664
29Renin-angiotensin system_Homo sapiens_hsa046141.16953838
30Prostate cancer_Homo sapiens_hsa052151.16647774
31p53 signaling pathway_Homo sapiens_hsa041151.16592943
32Aldosterone synthesis and secretion_Homo sapiens_hsa049251.16218201
33Jak-STAT signaling pathway_Homo sapiens_hsa046301.14071046
34Pathways in cancer_Homo sapiens_hsa052001.12445127
35Axon guidance_Homo sapiens_hsa043601.11026855
36Melanogenesis_Homo sapiens_hsa049161.10267333
37Endometrial cancer_Homo sapiens_hsa052131.03032081
38Ras signaling pathway_Homo sapiens_hsa040140.99737195
39Rap1 signaling pathway_Homo sapiens_hsa040150.99704283
40Regulation of actin cytoskeleton_Homo sapiens_hsa048100.98996084
41Sphingolipid metabolism_Homo sapiens_hsa006000.97816306
42Central carbon metabolism in cancer_Homo sapiens_hsa052300.97132553
43Thyroid hormone signaling pathway_Homo sapiens_hsa049190.96577911
44Thyroid hormone synthesis_Homo sapiens_hsa049180.94438970
45Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.93876710
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93417339
47Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.91339238
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89236602
49Notch signaling pathway_Homo sapiens_hsa043300.89024133
50AMPK signaling pathway_Homo sapiens_hsa041520.88270804
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83496600
52Gap junction_Homo sapiens_hsa045400.82972905
53Renal cell carcinoma_Homo sapiens_hsa052110.82431989
54mTOR signaling pathway_Homo sapiens_hsa041500.80876307
55Inositol phosphate metabolism_Homo sapiens_hsa005620.77904768
56Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.76755817
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76084687
58Vitamin digestion and absorption_Homo sapiens_hsa049770.73145952
59Chronic myeloid leukemia_Homo sapiens_hsa052200.72769415
60Prolactin signaling pathway_Homo sapiens_hsa049170.71526562
61Amoebiasis_Homo sapiens_hsa051460.71399710
62Basal transcription factors_Homo sapiens_hsa030220.70537055
63Dilated cardiomyopathy_Homo sapiens_hsa054140.67906271
64Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.64954195
65Insulin signaling pathway_Homo sapiens_hsa049100.64075754
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63412539
67Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.60734531
68Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.60479407
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60139376
70Glioma_Homo sapiens_hsa052140.59947220
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.59931946
72FoxO signaling pathway_Homo sapiens_hsa040680.59728895
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.58606346
74ErbB signaling pathway_Homo sapiens_hsa040120.58212313
75HIF-1 signaling pathway_Homo sapiens_hsa040660.58211293
76Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.57545790
77mRNA surveillance pathway_Homo sapiens_hsa030150.55184029
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.55062003
79Lysine degradation_Homo sapiens_hsa003100.51937325
80Phospholipase D signaling pathway_Homo sapiens_hsa040720.51725489
81GnRH signaling pathway_Homo sapiens_hsa049120.51593863
82Oocyte meiosis_Homo sapiens_hsa041140.50725439
83Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50422122
84cGMP-PKG signaling pathway_Homo sapiens_hsa040220.49416484
85Choline metabolism in cancer_Homo sapiens_hsa052310.48614358
86Cyanoamino acid metabolism_Homo sapiens_hsa004600.48505426
87Circadian rhythm_Homo sapiens_hsa047100.47754134
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47528378
89Glycosaminoglycan degradation_Homo sapiens_hsa005310.45549456
90Estrogen signaling pathway_Homo sapiens_hsa049150.45489639
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.45382515
92Dorso-ventral axis formation_Homo sapiens_hsa043200.44279662
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43819590
94MAPK signaling pathway_Homo sapiens_hsa040100.43371731
95HTLV-I infection_Homo sapiens_hsa051660.41597742
96VEGF signaling pathway_Homo sapiens_hsa043700.41265834
97Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.39627488
98Mineral absorption_Homo sapiens_hsa049780.38535612
99Acute myeloid leukemia_Homo sapiens_hsa052210.37620338
100Endocytosis_Homo sapiens_hsa041440.37476732

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