AMELX

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 member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* regulation of odontogenesis (GO:0042481)8.35868634
2endodermal cell differentiation (GO:0035987)6.85467807
3bone trabecula formation (GO:0060346)6.48441811
4extracellular matrix disassembly (GO:0022617)6.16938119
5cell-substrate junction assembly (GO:0007044)5.99000422
6C4-dicarboxylate transport (GO:0015740)5.00800008
7regulation of female gonad development (GO:2000194)4.79174569
8ovulation cycle (GO:0042698)4.61836965
9positive regulation of hair cycle (GO:0042635)4.42750321
10positive regulation of hair follicle development (GO:0051798)4.42750321
11short-term memory (GO:0007614)4.20775924
12collagen catabolic process (GO:0030574)4.14344339
13lateral sprouting from an epithelium (GO:0060601)4.11713138
14somatic stem cell division (GO:0048103)4.08537580
15collagen metabolic process (GO:0032963)3.99993813
16lateral ventricle development (GO:0021670)3.98751405
17regulation of hair follicle development (GO:0051797)3.85415044
18multicellular organismal catabolic process (GO:0044243)3.79008352
19* regulation of biomineral tissue development (GO:0070167)3.77360448
20multicellular organismal macromolecule metabolic process (GO:0044259)3.74396202
21multicellular organismal metabolic process (GO:0044236)3.51062343
22regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.50671962
23positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.50660843
24nerve growth factor signaling pathway (GO:0038180)3.50364780
25sodium ion export (GO:0071436)3.49680656
26negative regulation of protein localization to plasma membrane (GO:1903077)3.49604452
27replacement ossification (GO:0036075)3.48644194
28endochondral ossification (GO:0001958)3.48644194
29inositol phosphate-mediated signaling (GO:0048016)3.46595585
30cranial suture morphogenesis (GO:0060363)3.44242230
31outer ear morphogenesis (GO:0042473)3.34214620
32mesenchymal-epithelial cell signaling (GO:0060638)3.22523479
33response to vitamin D (GO:0033280)3.18373369
34negative regulation of smooth muscle cell differentiation (GO:0051151)3.16557052
35craniofacial suture morphogenesis (GO:0097094)3.16088186
36negative regulation of Notch signaling pathway (GO:0045746)3.15904946
37response to parathyroid hormone (GO:0071107)3.15803792
38establishment of planar polarity (GO:0001736)3.14225156
39establishment of tissue polarity (GO:0007164)3.14225156
40* organ morphogenesis (GO:0009887)3.12907286
41lung-associated mesenchyme development (GO:0060484)3.10661932
42branching involved in salivary gland morphogenesis (GO:0060445)3.05364559
43chondrocyte development (GO:0002063)3.04723824
44cellular potassium ion homeostasis (GO:0030007)3.04152250
45skeletal muscle fiber development (GO:0048741)3.03694030
46protein localization to endosome (GO:0036010)3.02770511
47regulation of neuron migration (GO:2001222)2.94595059
48iron ion import (GO:0097286)2.86992761
49cell adhesion mediated by integrin (GO:0033627)2.85348245
50midgut development (GO:0007494)2.85219732
51regulation of mesenchymal cell apoptotic process (GO:2001053)2.79857338
52positive regulation of Rho protein signal transduction (GO:0035025)2.73797322
53extracellular matrix organization (GO:0030198)2.71140542
54hematopoietic stem cell proliferation (GO:0071425)2.70411486
55osteoblast development (GO:0002076)2.70333820
56extracellular structure organization (GO:0043062)2.70014779
57regulation of synapse structural plasticity (GO:0051823)2.69146308
58mesenchymal cell proliferation (GO:0010463)2.68321030
59lens fiber cell differentiation (GO:0070306)2.66510908
60myotube cell development (GO:0014904)2.60174913
61cell junction organization (GO:0034330)2.58062587
62embryonic hindlimb morphogenesis (GO:0035116)2.54328337
63planar cell polarity pathway involved in neural tube closure (GO:0090179)2.53272954
64stem cell division (GO:0017145)2.52811549
65bundle of His cell to Purkinje myocyte communication (GO:0086069)2.52672008
66negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.50368427
67leukocyte aggregation (GO:0070486)2.50013417
68positive regulation of catenin import into nucleus (GO:0035413)2.47536644
69regulation of hair cycle (GO:0042634)2.46301224
70cell proliferation involved in metanephros development (GO:0072203)2.46113661
71renal system development (GO:0072001)2.45510629
72positive regulation of bone resorption (GO:0045780)2.45369445
73positive regulation of bone remodeling (GO:0046852)2.45369445
74cell surface receptor signaling pathway involved in heart development (GO:0061311)2.41049063
75epidermis development (GO:0008544)2.39831738
76adhesion of symbiont to host cell (GO:0044650)2.38404166
77virion attachment to host cell (GO:0019062)2.38404166
78* regulation of organ morphogenesis (GO:2000027)2.38170635
79positive regulation of osteoblast differentiation (GO:0045669)2.37598955
80regulation of superoxide metabolic process (GO:0090322)2.37561307
81regulation of superoxide anion generation (GO:0032928)2.36653266
82dendrite morphogenesis (GO:0048813)2.35716330
83regulation of transforming growth factor beta2 production (GO:0032909)2.35311101
84cell junction assembly (GO:0034329)2.33086875
85type B pancreatic cell proliferation (GO:0044342)2.31841367
86cell-matrix adhesion (GO:0007160)2.31114545
87glial cell migration (GO:0008347)2.30563892
88positive regulation of bone mineralization (GO:0030501)2.29757355
89myoblast differentiation (GO:0045445)2.29614394
90regulation of secondary heart field cardioblast proliferation (GO:0003266)2.29379393
91regulation of cardioblast proliferation (GO:0003264)2.29379393
92outflow tract septum morphogenesis (GO:0003148)2.28571356
93regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.27713841
94desmosome organization (GO:0002934)2.27144549
95hemidesmosome assembly (GO:0031581)18.8200154
96* odontogenesis of dentin-containing tooth (GO:0042475)17.1161535
97regulation of odontogenesis of dentin-containing tooth (GO:0042487)14.4985598
98* odontogenesis (GO:0042476)12.7386952
99* biomineral tissue development (GO:0031214)12.1127058
100* tooth mineralization (GO:0034505)11.3733022

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human9.04307556
2TRIM28_21343339_ChIP-Seq_HEK293_Human5.18085596
3HTT_18923047_ChIP-ChIP_STHdh_Human3.69503951
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.17341491
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.76627617
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.58379214
7ESR1_21235772_ChIP-Seq_MCF-7_Human2.04595556
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.93618209
9CLOCK_20551151_ChIP-Seq_293T_Human1.87855405
10EZH2_18974828_ChIP-Seq_MESCs_Mouse1.81560707
11RNF2_18974828_ChIP-Seq_MESCs_Mouse1.81560707
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.74037639
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.69011145
14SOX9_24532713_ChIP-Seq_HFSC_Mouse1.66983158
15RARG_19884340_ChIP-ChIP_MEFs_Mouse1.65167089
16TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.61545352
17ZNF263_19887448_ChIP-Seq_K562_Human1.60877209
18SMAD3_21741376_ChIP-Seq_HESCs_Human1.60234722
19JARID2_20075857_ChIP-Seq_MESCs_Mouse1.59039250
20ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.56977701
21CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.54055729
22WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.51405050
23SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.51350240
24JARID2_20064375_ChIP-Seq_MESCs_Mouse1.50529451
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.50516768
26SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.46956468
27TP53_20018659_ChIP-ChIP_R1E_Mouse1.45540951
28SMAD4_21741376_ChIP-Seq_HESCs_Human1.44079087
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.42329311
30AR_21572438_ChIP-Seq_LNCaP_Human1.41048343
31MTF2_20144788_ChIP-Seq_MESCs_Mouse1.38676383
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.37671646
33ZNF217_24962896_ChIP-Seq_MCF-7_Human1.35746031
34FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.34578305
35SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.33550505
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32677457
37EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.30372251
38ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.29004552
39SUZ12_27294783_Chip-Seq_ESCs_Mouse1.28771408
40ARNT_22903824_ChIP-Seq_MCF-7_Human1.26145086
41SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.26105656
42WT1_19549856_ChIP-ChIP_CCG9911_Human1.25728355
43JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23824729
44EZH2_27304074_Chip-Seq_ESCs_Mouse1.22016544
45NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.19842318
46LXR_22158963_ChIP-Seq_LIVER_Mouse1.19611245
47VDR_24787735_ChIP-Seq_THP-1_Human1.17895904
48THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.17872199
49TP53_18474530_ChIP-ChIP_U2OS_Human1.16793675
50RXR_22158963_ChIP-Seq_LIVER_Mouse1.13556892
51RXR_22108803_ChIP-Seq_LS180_Human1.12939768
52* CJUN_26792858_Chip-Seq_BT549_Human1.09120208
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.07577813
54CDX2_19796622_ChIP-Seq_MESCs_Mouse1.06385942
55CTNNB1_20460455_ChIP-Seq_HCT116_Human1.05953442
56HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.04936084
57EZH2_27294783_Chip-Seq_ESCs_Mouse1.04656959
58TP63_23658742_ChIP-Seq_EP156T_Human1.03247077
59TCF3_18692474_ChIP-Seq_MEFs_Mouse1.02904349
60RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.01039893
61RNF2_27304074_Chip-Seq_ESCs_Mouse1.00957677
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00369681
63* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.99223823
64* SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.99223823
65GATA2_21666600_ChIP-Seq_HMVEC_Human0.99090939
66EED_16625203_ChIP-ChIP_MESCs_Mouse0.99020529
67ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98510080
68KDM2B_26808549_Chip-Seq_K562_Human0.98332607
69ERG_21242973_ChIP-ChIP_JURKAT_Human0.97851023
70JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96677489
71RING1B_27294783_Chip-Seq_ESCs_Mouse0.95106118
72NRF2_20460467_ChIP-Seq_MEFs_Mouse0.94454618
73NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.94454618
74KDM2B_26808549_Chip-Seq_DND41_Human0.94216801
75KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92576537
76CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92450289
77P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91842081
78HIF1A_21447827_ChIP-Seq_MCF-7_Human0.91723995
79RING1B_27294783_Chip-Seq_NPCs_Mouse0.91203165
80TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91191322
81TCF4_18268006_ChIP-ChIP_LS174T_Human0.91147901
82SOX2_20726797_ChIP-Seq_SW620_Human0.90836002
83FOXA1_25552417_ChIP-Seq_VCAP_Human0.90768763
84WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89993304
85DNAJC2_21179169_ChIP-ChIP_NT2_Human0.89531854
86AR_21909140_ChIP-Seq_LNCAP_Human0.88169864
87EP300_21415370_ChIP-Seq_HL-1_Mouse0.87961197
88ISL1_27105846_Chip-Seq_CPCs_Mouse0.87950420
89EWS_26573619_Chip-Seq_HEK293_Human0.87435066
90NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.86255410
91TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.85941234
92EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.84233859
93UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.84088648
94KDM2B_26808549_Chip-Seq_JURKAT_Human0.80731357
95AHR_22903824_ChIP-Seq_MCF-7_Human0.80723354
96SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.80053476
97SOX2_21211035_ChIP-Seq_LN229_Gbm0.80043363
98PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.79211171
99KLF5_25053715_ChIP-Seq_YYC3_Human0.77577658
100SMAD4_21741376_ChIP-Seq_EPCs_Human0.77121925

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002234_abnormal_pharynx_morphology5.50382682
2MP0005275_abnormal_skin_tensile4.91918748
3MP0001849_ear_inflammation4.80317903
4MP0002653_abnormal_ependyma_morphology4.34854641
5* MP0000432_abnormal_head_morphology4.20313563
6* MP0003935_abnormal_craniofacial_develop4.14669255
7MP0004272_abnormal_basement_membrane3.60114938
8MP0005187_abnormal_penis_morphology3.14870838
9MP0008438_abnormal_cutaneous_collagen3.06560513
10MP0003315_abnormal_perineum_morphology3.05252320
11MP0002060_abnormal_skin_morphology2.73382433
12MP0000613_abnormal_salivary_gland2.72536560
13MP0000762_abnormal_tongue_morphology2.72119714
14MP0001542_abnormal_bone_strength2.69500640
15MP0000462_abnormal_digestive_system2.65728043
16MP0002877_abnormal_melanocyte_morpholog2.63992507
17MP0002254_reproductive_system_inflammat2.19585867
18MP0003300_gastrointestinal_ulcer2.04563696
19MP0000538_abnormal_urinary_bladder2.01360951
20MP0002896_abnormal_bone_mineralization1.96627410
21MP0003941_abnormal_skin_development1.93962802
22MP0009250_abnormal_appendicular_skeleto1.87268222
23MP0001299_abnormal_eye_distance/1.83912080
24MP0010030_abnormal_orbit_morphology1.72340093
25MP0005646_abnormal_pituitary_gland1.64009857
26MP0003705_abnormal_hypodermis_morpholog1.62929147
27MP0002909_abnormal_adrenal_gland1.57279168
28MP0003566_abnormal_cell_adhesion1.48190846
29MP0002098_abnormal_vibrissa_morphology1.46920346
30MP0000163_abnormal_cartilage_morphology1.42880215
31MP0000733_abnormal_muscle_development1.41822602
32MP0000467_abnormal_esophagus_morphology1.37252300
33MP0000383_abnormal_hair_follicle1.33854381
34MP0006054_spinal_hemorrhage1.32071256
35MP0001216_abnormal_epidermal_layer1.30985165
36MP0010234_abnormal_vibrissa_follicle1.29484313
37MP0000604_amyloidosis1.27311520
38MP0010771_integument_phenotype1.27053941
39MP0003385_abnormal_body_wall1.26733477
40MP0005023_abnormal_wound_healing1.26621721
41MP0002009_preneoplasia1.26508270
42MP0010678_abnormal_skin_adnexa1.25409953
43* MP0002116_abnormal_craniofacial_bone1.24837407
44MP0000049_abnormal_middle_ear1.21662269
45MP0009931_abnormal_skin_appearance1.16806875
46MP0000647_abnormal_sebaceous_gland1.12075540
47MP0002998_abnormal_bone_remodeling1.11403556
48MP0004885_abnormal_endolymph1.11321857
49MP0002796_impaired_skin_barrier1.10946425
50MP0000428_abnormal_craniofacial_morphol1.07690228
51MP0003755_abnormal_palate_morphology1.07440137
52MP0003329_amyloid_beta_deposits1.06356635
53MP0002249_abnormal_larynx_morphology1.06020050
54MP0005623_abnormal_meninges_morphology1.05541284
55MP0002295_abnormal_pulmonary_circulatio1.05505881
56MP0001270_distended_abdomen1.05401527
57MP0009384_cardiac_valve_regurgitation1.04163326
58MP0004859_abnormal_synaptic_plasticity0.99190904
59MP0005503_abnormal_tendon_morphology0.97996486
60MP0002115_abnormal_skeleton_extremities0.97031414
61MP0009053_abnormal_anal_canal0.96976607
62MP0004185_abnormal_adipocyte_glucose0.95443915
63MP0005508_abnormal_skeleton_morphology0.94697214
64MP0001915_intracranial_hemorrhage0.93426531
65MP0003279_aneurysm0.92031848
66MP0000579_abnormal_nail_morphology0.89702636
67MP0002109_abnormal_limb_morphology0.83982821
68MP0002177_abnormal_outer_ear0.82607397
69MP0002233_abnormal_nose_morphology0.82404268
70MP0002282_abnormal_trachea_morphology0.82023731
71MP0005248_abnormal_Harderian_gland0.81922668
72MP0003795_abnormal_bone_structure0.80593114
73MP0003787_abnormal_imprinting0.79718952
74MP0009780_abnormal_chondrocyte_physiolo0.75223842
75MP0002113_abnormal_skeleton_development0.73194593
76MP0002108_abnormal_muscle_morphology0.72756725
77MP0005381_digestive/alimentary_phenotyp0.70560445
78MP0004858_abnormal_nervous_system0.69964450
79MP0000377_abnormal_hair_follicle0.68786782
80MP0005166_decreased_susceptibility_to0.65397700
81MP0003937_abnormal_limbs/digits/tail_de0.65119148
82MP0003448_altered_tumor_morphology0.62523185
83MP0003942_abnormal_urinary_system0.62066900
84MP0000470_abnormal_stomach_morphology0.62066764
85MP0001346_abnormal_lacrimal_gland0.60454758
86MP0004270_analgesia0.60289197
87MP0001340_abnormal_eyelid_morphology0.59890981
88MP0002638_abnormal_pupillary_reflex0.59753727
89MP0001243_abnormal_dermal_layer0.57237227
90MP0003453_abnormal_keratinocyte_physiol0.55962279
91MP0005360_urolithiasis0.53178965
92MP0004084_abnormal_cardiac_muscle0.48873188
93MP0000343_altered_response_to0.47248006
94MP0001664_abnormal_digestion0.46214160
95MP0005390_skeleton_phenotype0.45538413
96MP0002932_abnormal_joint_morphology0.44950237
97MP0004484_altered_response_of0.44213497
98MP0001533_abnormal_skeleton_physiology0.43707434
99MP0002697_abnormal_eye_size0.43525899
100MP0009672_abnormal_birth_weight0.42446856

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)9.25047020
2Milia (HP:0001056)8.44419331
3Fragile nails (HP:0001808)8.36223888
4Abnormality of dental color (HP:0011073)5.39355259
5Plantar hyperkeratosis (HP:0007556)4.25716285
6Hypoplasia of dental enamel (HP:0006297)3.91479970
7Metaphyseal cupping (HP:0003021)3.32433424
8* Amelogenesis imperfecta (HP:0000705)28.0099716
9Nail dystrophy (HP:0008404)2.93567718
10Widely patent fontanelles and sutures (HP:0004492)2.70986094
11Broad metatarsal (HP:0001783)2.39046184
12Hypodontia (HP:0000668)2.38299948
13Death in infancy (HP:0001522)2.36075154
14Short middle phalanx of the 5th finger (HP:0004220)2.10649839
15Premature loss of primary teeth (HP:0006323)2.09861324
16Protrusio acetabuli (HP:0003179)2.08490688
17Osteomalacia (HP:0002749)2.08173100
18Onycholysis (HP:0001806)13.3733086
19Split foot (HP:0001839)1.97347939
20Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.94997618
21Wide cranial sutures (HP:0010537)1.91495646
22Shallow orbits (HP:0000586)1.90187197
23Parakeratosis (HP:0001036)1.89627776
24Weak cry (HP:0001612)1.87722885
25Premature rupture of membranes (HP:0001788)1.84632986
26Turricephaly (HP:0000262)1.79260105
27Ulnar bowing (HP:0003031)1.77272686
28Abnormal blistering of the skin (HP:0008066)1.74485029
29Pyloric stenosis (HP:0002021)1.72575640
30Abnormality of the frontal sinuses (HP:0002687)1.70212630
31Spondylolisthesis (HP:0003302)1.69491148
32Anosmia (HP:0000458)1.67945522
33Abnormality of the costochondral junction (HP:0000919)1.67484102
34Carious teeth (HP:0000670)1.67065443
35Dehydration (HP:0001944)1.65978692
36Abnormality of the parietal bone (HP:0002696)1.65406525
37Absent frontal sinuses (HP:0002688)1.64677263
38Hoarse voice (HP:0001609)1.62844996
39Fragile skin (HP:0001030)1.60859701
40Dental malocclusion (HP:0000689)1.57739317
41Right ventricular cardiomyopathy (HP:0011663)1.54552298
42Coronal craniosynostosis (HP:0004440)1.52899366
43Blue sclerae (HP:0000592)1.51496789
44Bronchomalacia (HP:0002780)1.49923653
45Aplasia cutis congenita (HP:0001057)1.48223169
46Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.47383962
47Vertebral clefting (HP:0008428)1.44197247
48Aortic dissection (HP:0002647)1.44011418
49Oligodontia (HP:0000677)1.42699748
50Wormian bones (HP:0002645)1.41759120
51Multiple enchondromatosis (HP:0005701)1.41473887
52Decreased skull ossification (HP:0004331)1.41307635
53Oligodactyly (hands) (HP:0001180)1.40262886
54Osteolytic defects of the phalanges of the hand (HP:0009771)1.40031834
55Osteolytic defects of the hand bones (HP:0009699)1.40031834
56Enlarged penis (HP:0000040)1.39407335
57Hypotrichosis (HP:0001006)1.33919589
58Cerebral aneurysm (HP:0004944)1.30027207
59Irregular vertebral endplates (HP:0003301)1.27800192
60Abnormality of primary teeth (HP:0006481)1.26422523
61Heterogeneous (HP:0001425)1.26273343
62Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.24319710
63Autoimmune thrombocytopenia (HP:0001973)1.23163155
64Short hallux (HP:0010109)1.20106876
65Abnormality of skull ossification (HP:0002703)1.19992425
66Abnormality of dentin (HP:0010299)1.17757465
67Epileptic encephalopathy (HP:0200134)1.16421993
68Abnormal vertebral ossification (HP:0100569)1.16267073
69Small epiphyses (HP:0010585)1.15678569
70Humeroradial synostosis (HP:0003041)1.15444319
71Synostosis involving the elbow (HP:0003938)1.15444319
72Mitral valve prolapse (HP:0001634)1.14546517
73Alopecia of scalp (HP:0002293)1.11228137
74Bowed forearm bones (HP:0003956)1.10566660
75Bowing of the arm (HP:0006488)1.10566660
76Absent eyebrow (HP:0002223)1.10453759
77Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.09513991
78Hyperhidrosis (HP:0000975)1.08670664
79Ridged nail (HP:0001807)1.08321188
80Aplasia/Hypoplasia of the hallux (HP:0008362)1.08155464
81Choanal stenosis (HP:0000452)1.07892704
82Short middle phalanx of finger (HP:0005819)1.06515439
83Arterial tortuosity (HP:0005116)1.05720763
84Narrow nasal bridge (HP:0000446)1.04801127
85Striae distensae (HP:0001065)1.04711697
86Syringomyelia (HP:0003396)1.01564681
87Spinal cord lesions (HP:0100561)1.01564681
88Short 5th finger (HP:0009237)1.01549078
89Camptodactyly of finger (HP:0100490)0.99664033
90Bladder diverticulum (HP:0000015)0.99088101
91Aplasia/Hypoplasia of the 5th finger (HP:0006262)0.98363041
92Selective tooth agenesis (HP:0001592)0.98361184
93Deviation of the hallux (HP:0010051)0.98103091
94Rickets (HP:0002748)0.96833996
95Abnormality of the middle phalanx of the 5th finger (HP:0004219)0.96700440
96Status epilepticus (HP:0002133)0.96576839
97Radial bowing (HP:0002986)0.96006116
98Femoral bowing (HP:0002980)0.95563379
99Abnormality of the fingernails (HP:0001231)0.95450821
100Peritonitis (HP:0002586)0.94356238

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K36.21192924
2TRPM74.67546929
3CDK63.79262608
4BMX2.61151567
5FGFR22.46506199
6CAMK42.32386189
7TRIB32.30718778
8RIPK12.16110021
9CSNK1A12.15436523
10PDGFRA2.04155307
11DYRK1A1.86225004
12CAMK11.82060973
13LRRK21.74854178
14FGFR11.57092263
15LMTK21.56663306
16TGFBR21.55125750
17DDR21.49016469
18PIM21.47188011
19PAK41.46962713
20NTRK11.38997653
21CDK91.37037357
22FER1.31265113
23EPHB11.30456608
24PKN21.27647945
25PRKD11.17505328
26DYRK1B1.17503885
27RET1.14912739
28SCYL21.14138590
29MAPK41.13518029
30TTN1.12821591
31PAK31.11169570
32PAK21.10912463
33HIPK21.08717647
34NTRK31.07325095
35EPHA41.06147218
36PTK21.06000334
37PAK61.04862086
38PTK61.04483541
39LATS11.01969676
40GSK3A1.00428641
41PRKD30.98461213
42MAP3K70.91689516
43KSR20.91114662
44PRKCE0.89830145
45PDK20.88031091
46EPHA30.87295621
47MAPK120.83836599
48CSNK1A1L0.82654467
49FGFR40.79986424
50ERN10.78261394
51MAP3K20.77671275
52CDK40.73547578
53TYRO30.73212153
54DAPK20.73146466
55MINK10.72589282
56PRKCZ0.71419637
57FGR0.69782334
58SIK10.69149327
59PDGFRB0.68616789
60BCR0.68487144
61UHMK10.66688256
62CAMKK10.64553807
63CDK190.64360254
64LATS20.64350912
65CDC42BPA0.64075143
66PRKCH0.63849840
67CDK140.63065101
68CDK50.61531987
69ROCK20.60774364
70DAPK30.60419849
71MAPK70.59733265
72ERBB30.58983001
73KSR10.58914810
74CAMK2A0.56926503
75CDK150.56043258
76PIK3CA0.54453408
77CDK180.52898021
78RIPK40.52144434
79EPHB20.49858493
80FGFR30.49299384
81CSNK1G30.49110643
82CSNK1G20.49085751
83SRC0.48929610
84FYN0.48215764
85CDK11A0.48128847
86MET0.47190277
87MAP3K100.46575334
88CSNK1G10.45349997
89ROCK10.45285597
90PTK2B0.45020262
91PLK20.43672075
92IGF1R0.42638357
93EGFR0.41792359
94ALK0.36697948
95ERBB20.34229214
96STK100.31941614
97FES0.31867415
98MAP2K40.31568445
99ABL10.31226309
100CSK0.30252982

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.65602131
2Amoebiasis_Homo sapiens_hsa051463.13673100
3Folate biosynthesis_Homo sapiens_hsa007902.89268766
4Small cell lung cancer_Homo sapiens_hsa052222.86411958
5Focal adhesion_Homo sapiens_hsa045102.44711272
6Toxoplasmosis_Homo sapiens_hsa051452.22923543
7Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.02506815
8Basal cell carcinoma_Homo sapiens_hsa052171.88274103
9Nitrogen metabolism_Homo sapiens_hsa009101.85876250
10Hedgehog signaling pathway_Homo sapiens_hsa043401.70066728
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.65810133
12Proteoglycans in cancer_Homo sapiens_hsa052051.57720366
13Gastric acid secretion_Homo sapiens_hsa049711.40501745
14PI3K-Akt signaling pathway_Homo sapiens_hsa041511.38242182
15GnRH signaling pathway_Homo sapiens_hsa049121.33305083
16Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32908513
17Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.31624543
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.28801817
19Hippo signaling pathway_Homo sapiens_hsa043901.28246338
20Bile secretion_Homo sapiens_hsa049761.26928387
21Adherens junction_Homo sapiens_hsa045201.26820909
22Wnt signaling pathway_Homo sapiens_hsa043101.23258702
23Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.20130846
24Salivary secretion_Homo sapiens_hsa049701.15835438
25Pathways in cancer_Homo sapiens_hsa052001.12504862
26Melanogenesis_Homo sapiens_hsa049161.12065301
27Mineral absorption_Homo sapiens_hsa049781.09707635
28TGF-beta signaling pathway_Homo sapiens_hsa043501.05985273
29Bladder cancer_Homo sapiens_hsa052191.05941308
30Vibrio cholerae infection_Homo sapiens_hsa051101.03098857
31Dilated cardiomyopathy_Homo sapiens_hsa054141.02381178
32MicroRNAs in cancer_Homo sapiens_hsa052061.00447976
33Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.99754098
34Collecting duct acid secretion_Homo sapiens_hsa049660.98470548
35Primary bile acid biosynthesis_Homo sapiens_hsa001200.97552609
36Glioma_Homo sapiens_hsa052140.96668721
37Leukocyte transendothelial migration_Homo sapiens_hsa046700.96205933
38Long-term depression_Homo sapiens_hsa047300.94919533
39Tight junction_Homo sapiens_hsa045300.92292557
40Synaptic vesicle cycle_Homo sapiens_hsa047210.89537216
41Protein digestion and absorption_Homo sapiens_hsa049740.88851280
42Long-term potentiation_Homo sapiens_hsa047200.88189068
43Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88093439
44Thyroid hormone synthesis_Homo sapiens_hsa049180.87969851
45Circadian entrainment_Homo sapiens_hsa047130.86711925
46Chronic myeloid leukemia_Homo sapiens_hsa052200.86629687
47Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86109586
48Complement and coagulation cascades_Homo sapiens_hsa046100.85557246
49Gap junction_Homo sapiens_hsa045400.83311719
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81931414
51Pancreatic secretion_Homo sapiens_hsa049720.81321552
52Platelet activation_Homo sapiens_hsa046110.79102625
53Arginine biosynthesis_Homo sapiens_hsa002200.78424658
54Axon guidance_Homo sapiens_hsa043600.78423047
55Notch signaling pathway_Homo sapiens_hsa043300.75407074
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73496781
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73487105
58Melanoma_Homo sapiens_hsa052180.73082671
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71854719
60GABAergic synapse_Homo sapiens_hsa047270.71623022
61Cholinergic synapse_Homo sapiens_hsa047250.68601415
62Insulin secretion_Homo sapiens_hsa049110.68438532
63Renin secretion_Homo sapiens_hsa049240.68152088
64Prostate cancer_Homo sapiens_hsa052150.67291409
65Estrogen signaling pathway_Homo sapiens_hsa049150.66727413
66Phagosome_Homo sapiens_hsa041450.66187913
67Rheumatoid arthritis_Homo sapiens_hsa053230.66068967
68Glutamatergic synapse_Homo sapiens_hsa047240.65617340
69Olfactory transduction_Homo sapiens_hsa047400.64731077
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63573664
71Oxytocin signaling pathway_Homo sapiens_hsa049210.63467353
72Aldosterone synthesis and secretion_Homo sapiens_hsa049250.61426964
73Dopaminergic synapse_Homo sapiens_hsa047280.61176833
74Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60266223
75AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.56940521
76Pancreatic cancer_Homo sapiens_hsa052120.55068615
77Rap1 signaling pathway_Homo sapiens_hsa040150.54022369
78Endometrial cancer_Homo sapiens_hsa052130.53396048
79Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.53325677
80Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.53189741
81Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52450206
82Central carbon metabolism in cancer_Homo sapiens_hsa052300.51013438
83Dorso-ventral axis formation_Homo sapiens_hsa043200.50927805
84Butanoate metabolism_Homo sapiens_hsa006500.50674267
85Sulfur metabolism_Homo sapiens_hsa009200.50509975
86Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.50070787
87Non-small cell lung cancer_Homo sapiens_hsa052230.49831124
88Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49106017
892-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.48726023
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.47965016
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47900344
92Renal cell carcinoma_Homo sapiens_hsa052110.44615004
93Lysosome_Homo sapiens_hsa041420.43411426
94cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42276774
95Cardiac muscle contraction_Homo sapiens_hsa042600.39959660
96Glucagon signaling pathway_Homo sapiens_hsa049220.38065237
97Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.35464094
98Malaria_Homo sapiens_hsa051440.35237322
99Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34107383
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32989436

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