A2ML1

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 alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). 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
1hair cycle (GO:0042633)8.44826462
2molting cycle (GO:0042303)8.44826462
3epidermis development (GO:0008544)8.03714711
4hemidesmosome assembly (GO:0031581)8.01485312
5multicellular organismal water homeostasis (GO:0050891)7.93291839
6keratinocyte proliferation (GO:0043616)7.17304868
7water homeostasis (GO:0030104)6.68337635
8long-chain fatty acid biosynthetic process (GO:0042759)6.05368555
9establishment of tissue polarity (GO:0007164)5.49463081
10establishment of planar polarity (GO:0001736)5.49463081
11ectoderm development (GO:0007398)5.38489772
12intermediate filament organization (GO:0045109)5.18927963
13keratinocyte development (GO:0003334)4.80943250
14lipoxygenase pathway (GO:0019372)4.57397886
15phosphatidylserine acyl-chain remodeling (GO:0036150)4.55778696
16phosphatidylinositol acyl-chain remodeling (GO:0036149)4.52935105
17gap junction assembly (GO:0016264)4.51489781
18intermediate filament cytoskeleton organization (GO:0045104)4.49141990
19intermediate filament-based process (GO:0045103)4.36868298
20negative regulation of keratinocyte proliferation (GO:0010839)4.23282261
21ventricular cardiac muscle cell action potential (GO:0086005)4.19865926
22linoleic acid metabolic process (GO:0043651)4.12340480
23skin morphogenesis (GO:0043589)4.10665048
24lateral sprouting from an epithelium (GO:0060601)4.05421715
25intestinal epithelial cell development (GO:0060576)3.98296404
26epithelium development (GO:0060429)3.95622009
27plasma membrane repair (GO:0001778)3.94730782
28detection of bacterium (GO:0016045)3.90948925
29phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.86506796
30transepithelial transport (GO:0070633)3.85060440
31regulation of heart rate by cardiac conduction (GO:0086091)3.77668253
32hair cell differentiation (GO:0035315)3.62412028
33apical protein localization (GO:0045176)3.61090192
34negative regulation of interferon-gamma production (GO:0032689)3.60144024
35regulation of keratinocyte proliferation (GO:0010837)3.56586309
36regulation of natural killer cell differentiation (GO:0032823)3.52493073
37hair follicle morphogenesis (GO:0031069)3.51445270
38negative regulation of interleukin-17 production (GO:0032700)3.42089203
39detection of other organism (GO:0098543)3.38979786
40phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.35140682
41phosphatidylcholine acyl-chain remodeling (GO:0036151)3.30537739
42planar cell polarity pathway involved in neural tube closure (GO:0090179)3.19429341
43cell communication involved in cardiac conduction (GO:0086065)3.16415424
44epithelial cell differentiation (GO:0030855)3.14859723
45regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.13955237
46response to UV-B (GO:0010224)3.13929100
47polarized epithelial cell differentiation (GO:0030859)3.12132833
48positive regulation of T cell chemotaxis (GO:0010820)3.08987345
49regulation of T cell chemotaxis (GO:0010819)3.08987345
50cardiac conduction (GO:0061337)3.08502803
51positive regulation of monocyte chemotaxis (GO:0090026)3.02418514
52eyelid development in camera-type eye (GO:0061029)3.01798158
53regulation of ruffle assembly (GO:1900027)3.01617488
54keratinization (GO:0031424)20.8133494
55positive regulation of epidermal cell differentiation (GO:0045606)2.90016810
56cardiac muscle cell action potential involved in contraction (GO:0086002)2.86589550
57cardiac muscle cell action potential (GO:0086001)2.86137870
58positive regulation of epidermis development (GO:0045684)2.86091505
59sequestering of metal ion (GO:0051238)2.83274103
60defense response to fungus (GO:0050832)2.80046512
61regulation of keratinocyte differentiation (GO:0045616)2.77612549
62phosphatidylserine metabolic process (GO:0006658)2.77422232
63positive regulation of glomerulus development (GO:0090193)2.76502926
64regulation of axon regeneration (GO:0048679)2.76091817
65regulation of neuron projection regeneration (GO:0070570)2.76091817
66surfactant homeostasis (GO:0043129)2.73163989
67pyrimidine dimer repair (GO:0006290)2.64820542
68asymmetric protein localization (GO:0008105)2.63217881
69chemical homeostasis within a tissue (GO:0048875)2.61424985
70O-glycan processing (GO:0016266)2.48997893
71endosome organization (GO:0007032)2.44202384
72positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)2.44055969
73regulation of hippo signaling (GO:0035330)2.39507533
74wound healing (GO:0042060)2.37280201
75early endosome to late endosome transport (GO:0045022)2.35733869
76phospholipid catabolic process (GO:0009395)2.35426307
77regulation of establishment of planar polarity (GO:0090175)2.35125446
78Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.34776972
79regulation of epidermis development (GO:0045682)2.31067703
80hair cycle process (GO:0022405)2.30256548
81molting cycle process (GO:0022404)2.30256548
82positive regulation of keratinocyte differentiation (GO:0045618)2.30086638
83skin development (GO:0043588)2.29839445
84cellular component disassembly involved in execution phase of apoptosis (GO:0006921)2.28181446
85ceramide biosynthetic process (GO:0046513)2.23689533
86regulation of protein localization to cell surface (GO:2000008)2.23593763
87regulation of natural killer cell activation (GO:0032814)2.20166451
88lung lobe morphogenesis (GO:0060463)2.19205877
89photoreceptor cell maintenance (GO:0045494)2.19048581
90response to X-ray (GO:0010165)2.17994593
91thyroid hormone generation (GO:0006590)2.17873775
92alditol phosphate metabolic process (GO:0052646)2.16476343
93non-canonical Wnt signaling pathway (GO:0035567)2.14885534
94establishment of skin barrier (GO:0061436)13.8813608
95keratinocyte differentiation (GO:0030216)13.4620743
96desmosome organization (GO:0002934)13.2552142
97peptide cross-linking (GO:0018149)12.6739348
98regulation of water loss via skin (GO:0033561)11.8654964
99bundle of His cell to Purkinje myocyte communication (GO:0086069)10.8322981
100epidermal cell differentiation (GO:0009913)10.5202046

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human9.63787891
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.81123023
3SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.32252988
4P63_26484246_Chip-Seq_KERATINOCYTES_Human2.72457200
5VDR_22108803_ChIP-Seq_LS180_Human2.44564080
6ZNF217_24962896_ChIP-Seq_MCF-7_Human2.37534551
7SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.31449392
8SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.31449392
9ESR1_21235772_ChIP-Seq_MCF-7_Human2.14852387
10SOX9_24532713_ChIP-Seq_HFSC_Mouse2.04974734
11AHR_22903824_ChIP-Seq_MCF-7_Human1.95375269
12* TP63_23658742_ChIP-Seq_EP156T_Human1.92668240
13ZFP57_27257070_Chip-Seq_ESCs_Mouse1.82791458
14CJUN_26792858_Chip-Seq_BT549_Human1.80636102
15HIF1A_21447827_ChIP-Seq_MCF-7_Human1.78267130
16ESR1_20079471_ChIP-ChIP_T-47D_Human1.74883279
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.59167753
18RXR_22108803_ChIP-Seq_LS180_Human1.58011248
19FOXM1_26456572_ChIP-Seq_MCF-7_Human1.56441388
20ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.55062996
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.54550799
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.51130250
23GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.49748122
24ARNT_22903824_ChIP-Seq_MCF-7_Human1.49028033
25FOXO3_23340844_ChIP-Seq_DLD1_Human1.48381273
26TCF4_18268006_ChIP-ChIP_LS174T_Human1.46653353
27TP53_16413492_ChIP-PET_HCT116_Human1.45243454
28GATA3_24758297_ChIP-Seq_MCF-7_Human1.41519940
29SOX2_20726797_ChIP-Seq_SW620_Human1.39316917
30ZNF274_21170338_ChIP-Seq_K562_Hela1.38611787
31TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.38252914
32SMAD4_21799915_ChIP-Seq_A2780_Human1.36295575
33KLF5_25053715_ChIP-Seq_YYC3_Human1.36175309
34BCAT_22108803_ChIP-Seq_LS180_Human1.36022739
35GATA6_21074721_ChIP-Seq_CACO-2_Human1.33361494
36POU3F2_20337985_ChIP-ChIP_501MEL_Human1.29913538
37GBX2_23144817_ChIP-Seq_PC3_Human1.29166385
38TAF15_26573619_Chip-Seq_HEK293_Human1.28859903
39FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.28590445
40TP53_18474530_ChIP-ChIP_U2OS_Human1.25614381
41SMAD3_21741376_ChIP-Seq_HESCs_Human1.25514016
42AR_21572438_ChIP-Seq_LNCaP_Human1.22811115
43STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22514195
44AR_25329375_ChIP-Seq_VCAP_Human1.21804718
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.20784262
46GATA4_25053715_ChIP-Seq_YYC3_Human1.19701566
47CDX2_22108803_ChIP-Seq_LS180_Human1.19634760
48CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.18968803
49TCF4_22108803_ChIP-Seq_LS180_Human1.18712280
50JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17178343
51RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15875895
52RBPJ_21746931_ChIP-Seq_IB4_Human1.15136374
53* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.14751156
54ERG_20517297_ChIP-Seq_VCAP_Human1.12829300
55* GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.11537521
56TP63_22573176_ChIP-Seq_HFKS_Human1.11221990
57SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.10049432
58NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09259725
59FUS_26573619_Chip-Seq_HEK293_Human1.08315125
60BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.06272720
61CBP_20019798_ChIP-Seq_JUKART_Human1.04585415
62IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04585415
63PPAR_26484153_Chip-Seq_NCI-H1993_Human1.03483705
64AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.03186020
65NRF2_20460467_ChIP-Seq_MEFs_Mouse1.02894145
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.02894145
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01513875
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01513670
69FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.99936248
70ETV1_20927104_ChIP-Seq_GIST48_Human0.99153534
71GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98899152
72STAT3_23295773_ChIP-Seq_U87_Human0.98692679
73BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98612389
74SMAD3_21741376_ChIP-Seq_EPCs_Human0.97396876
75* TCF4_23295773_ChIP-Seq_U87_Human0.97220790
76STAT6_21828071_ChIP-Seq_BEAS2B_Human0.97157371
77HNFA_21074721_ChIP-Seq_CACO-2_Human0.96004414
78PCGF2_27294783_Chip-Seq_NPCs_Mouse0.95984302
79TBL1_22424771_ChIP-Seq_293T_Human0.95647984
80IGF1R_20145208_ChIP-Seq_DFB_Human0.94289911
81PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.92881639
82CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.92542232
83FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92392452
84UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92138169
85PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91350444
86* P300_19829295_ChIP-Seq_ESCs_Human0.90998917
87CBX2_22325352_ChIP-Seq_293T-Rex_Human0.90855650
88NFYB_21822215_ChIP-Seq_K562_Human0.89788637
89JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88663589
90GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88650641
91OCT1_27270436_Chip-Seq_PROSTATE_Human0.87927134
92KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.87703700
93FOXA1_27270436_Chip-Seq_PROSTATE_Human0.87262436
94FOXA1_25329375_ChIP-Seq_VCAP_Human0.87262436
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.86713553
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.86314233
97VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.85910483
98SUZ12_27294783_Chip-Seq_NPCs_Mouse0.85501257
99PHF8_20622853_ChIP-Seq_HELA_Human0.85408527
100HTT_18923047_ChIP-ChIP_STHdh_Human0.85199529

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier7.88270197
2MP0010234_abnormal_vibrissa_follicle7.53601918
3MP0005275_abnormal_skin_tensile7.16422426
4MP0000579_abnormal_nail_morphology5.44125581
5MP0005501_abnormal_skin_physiology4.61603329
6MP0010678_abnormal_skin_adnexa3.73351290
7MP0000383_abnormal_hair_follicle3.31360338
8MP0001216_abnormal_epidermal_layer3.11051639
9MP0000467_abnormal_esophagus_morphology3.05931864
10MP0003941_abnormal_skin_development2.98483642
11MP0003453_abnormal_keratinocyte_physiol2.91971703
12MP0002060_abnormal_skin_morphology2.85870961
13MP0010771_integument_phenotype2.82752130
14MP0004043_abnormal_pH_regulation2.72242840
15MP0004885_abnormal_endolymph2.70648438
16MP0004264_abnormal_extraembryonic_tissu2.39951810
17MP0003878_abnormal_ear_physiology2.32625194
18MP0005377_hearing/vestibular/ear_phenot2.32625194
19MP0002098_abnormal_vibrissa_morphology2.26263886
20MP0000762_abnormal_tongue_morphology2.23937972
21MP0000566_synostosis2.23824058
22MP0000377_abnormal_hair_follicle2.20738971
23MP0000427_abnormal_hair_cycle1.99298102
24MP0004381_abnormal_hair_follicle1.86773957
25MP0002095_abnormal_skin_pigmentation1.73667459
26MP0010352_gastrointestinal_tract_polyps1.70604213
27MP0005409_darkened_coat_color1.51528086
28MP0000647_abnormal_sebaceous_gland1.44610865
29MP0004947_skin_inflammation1.36035217
30MP0009931_abnormal_skin_appearance1.31355553
31MP0001243_abnormal_dermal_layer1.24619050
32MP0001191_abnormal_skin_condition1.22211520
33MP0000367_abnormal_coat/_hair1.22210509
34MP0003566_abnormal_cell_adhesion1.18045118
35MP0003950_abnormal_plasma_membrane1.17446991
36MP0002234_abnormal_pharynx_morphology1.11697099
37MP0009780_abnormal_chondrocyte_physiolo1.08077742
38MP0003705_abnormal_hypodermis_morpholog1.07533561
39MP0009053_abnormal_anal_canal1.03487678
40MP0002282_abnormal_trachea_morphology1.00679010
41MP0005023_abnormal_wound_healing0.98659368
42MP0000569_abnormal_digit_pigmentation0.98388639
43MP0001851_eye_inflammation0.98161407
44MP0004782_abnormal_surfactant_physiolog0.97358553
45MP0008438_abnormal_cutaneous_collagen0.97187000
46MP0000465_gastrointestinal_hemorrhage0.94865311
47MP0005503_abnormal_tendon_morphology0.90185795
48MP0000470_abnormal_stomach_morphology0.74399470
49MP0002166_altered_tumor_susceptibility0.73289025
50MP0001188_hyperpigmentation0.71660291
51MP0001784_abnormal_fluid_regulation0.71531156
52MP0003191_abnormal_cellular_cholesterol0.68434638
53MP0002006_tumorigenesis0.66994566
54MP0000371_diluted_coat_color0.65871496
55MP0004185_abnormal_adipocyte_glucose0.61587174
56MP0003011_delayed_dark_adaptation0.56218759
57MP0000003_abnormal_adipose_tissue0.54171957
58MP0001485_abnormal_pinna_reflex0.53621216
59MP0002254_reproductive_system_inflammat0.52970573
60MP0003045_fibrosis0.49632878
61MP0005171_absent_coat_pigmentation0.48386481
62MP0003755_abnormal_palate_morphology0.48076517
63MP0010030_abnormal_orbit_morphology0.47725631
64MP0002111_abnormal_tail_morphology0.46566536
65MP0003638_abnormal_response/metabolism_0.46273940
66MP0001765_abnormal_ion_homeostasis0.40770494
67MP0001958_emphysema0.36233745
68MP0005375_adipose_tissue_phenotype0.35251692
69MP0001340_abnormal_eyelid_morphology0.34731321
70MP0003937_abnormal_limbs/digits/tail_de0.32649539
71MP0001984_abnormal_olfaction0.32617567
72MP0002177_abnormal_outer_ear0.31660253
73MP0002009_preneoplasia0.31610274
74MP0002075_abnormal_coat/hair_pigmentati0.31435612
75MP0002108_abnormal_muscle_morphology0.31052899
76MP0005075_abnormal_melanosome_morpholog0.30507361
77MP0008789_abnormal_olfactory_epithelium0.28515287
78MP0005174_abnormal_tail_pigmentation0.27401043
79MP0005253_abnormal_eye_physiology0.27285917
80MP0004134_abnormal_chest_morphology0.26829201
81MP0001501_abnormal_sleep_pattern0.25512217
82MP0010386_abnormal_urinary_bladder0.25493776
83MP0000627_abnormal_mammary_gland0.24717854
84MP0000015_abnormal_ear_pigmentation0.24334553
85MP0001186_pigmentation_phenotype0.23702806
86MP0001502_abnormal_circadian_rhythm0.21815174
87MP0004142_abnormal_muscle_tone0.21614198
88MP0001756_abnormal_urination0.20355978
89MP0004197_abnormal_fetal_growth/weight/0.19928293
90MP0002109_abnormal_limb_morphology0.19685032
91MP0009379_abnormal_foot_pigmentation0.17996268
92MP0002876_abnormal_thyroid_physiology0.17448187
93MP0002168_other_aberrant_phenotype0.17099510
94MP0000613_abnormal_salivary_gland0.16693782
95MP0002133_abnormal_respiratory_system0.16663425
96MP0005388_respiratory_system_phenotype0.16663425
97MP0008961_abnormal_basal_metabolism0.16051987
98MP0003315_abnormal_perineum_morphology0.15662124
99MP0002938_white_spotting0.15655798
100MP0004484_altered_response_of0.15647691

Predicted human phenotypes

RankGene SetZ-score
1Oral leukoplakia (HP:0002745)8.32601425
2Palmoplantar hyperkeratosis (HP:0000972)7.46743270
3Palmar hyperkeratosis (HP:0010765)7.13523817
4Erythroderma (HP:0001019)7.07175107
5Plantar hyperkeratosis (HP:0007556)6.96073742
6Onycholysis (HP:0001806)6.77485691
7Increased IgE level (HP:0003212)6.64631595
8Congenital ichthyosiform erythroderma (HP:0007431)6.23640704
9Alopecia of scalp (HP:0002293)6.21044479
10Right ventricular cardiomyopathy (HP:0011663)6.17218673
11Hypotrichosis (HP:0001006)5.70034721
12Congenital nonbullous ichthyosiform erythroderma (HP:0007479)5.67285632
13Abnormality of the axillary hair (HP:0100134)5.50748846
14Abnormality of secondary sexual hair (HP:0009888)5.50748846
15Thick nail (HP:0001805)5.01510939
16Corneal erosion (HP:0200020)4.98753718
17Erythema (HP:0010783)4.83161075
18Lip pit (HP:0100267)4.81240574
19Ectropion (HP:0000656)4.75174724
20Parakeratosis (HP:0001036)4.72891229
21Fragile nails (HP:0001808)4.62588401
22Woolly hair (HP:0002224)4.26375519
23Milia (HP:0001056)4.21420840
24Nail dystrophy (HP:0008404)4.19087330
25Pustule (HP:0200039)4.01582210
26Palmoplantar keratoderma (HP:0000982)3.53534439
27Sparse scalp hair (HP:0002209)3.50503137
28Furrowed tongue (HP:0000221)3.48123029
29Hypohidrosis (HP:0000966)3.42288465
30Absent eyelashes (HP:0000561)3.33535650
31Hypoplastic labia majora (HP:0000059)3.31359377
32Sparse eyelashes (HP:0000653)3.16516326
33Abnormality of the salivary glands (HP:0010286)3.08655469
34Abnormal blistering of the skin (HP:0008066)3.06115856
35Abnormality of the labia majora (HP:0012881)3.04230685
36Duplicated collecting system (HP:0000081)3.01981855
37Absent hair (HP:0002298)3.01733039
38Gangrene (HP:0100758)2.87490081
39Abnormality of the renal collecting system (HP:0004742)2.69240869
40Brittle hair (HP:0002299)2.54058859
41Dry hair (HP:0011359)2.50971382
42Amniotic constriction ring (HP:0009775)2.50724191
43Abnormality of placental membranes (HP:0011409)2.50724191
44Dehydration (HP:0001944)2.46796580
45Pruritus (HP:0000989)2.45202421
46Pili torti (HP:0003777)2.39635764
47Blepharitis (HP:0000498)2.37191650
48Popliteal pterygium (HP:0009756)2.26707827
49Follicular hyperkeratosis (HP:0007502)2.25479105
50Abnormal hair laboratory examination (HP:0003328)2.24505900
51Lack of skin elasticity (HP:0100679)2.21956011
52Labial hypoplasia (HP:0000066)2.20021811
53Natal tooth (HP:0000695)2.17534592
54Ridged nail (HP:0001807)2.09407944
55Keratoconjunctivitis sicca (HP:0001097)2.09204905
56Anhidrosis (HP:0000970)2.06540810
57Atrophic scars (HP:0001075)2.05718333
58Keratoconjunctivitis (HP:0001096)2.03604415
59Laryngomalacia (HP:0001601)2.02967894
60Abnormality of nail color (HP:0100643)10.6821091
61Abnormal auditory evoked potentials (HP:0006958)1.97847003
62Conjunctival hamartoma (HP:0100780)1.97560784
63Hypoplastic female external genitalia (HP:0012815)1.96786487
64Anonychia (HP:0001798)1.90436674
65Oligodontia (HP:0000677)1.89983193
66Abnormality of hair growth rate (HP:0011363)1.89347824
67Slow-growing hair (HP:0002217)1.89347824
68Hyperkalemia (HP:0002153)1.88726747
69Hyperactive renin-angiotensin system (HP:0000841)1.88185690
70Autoamputation (HP:0001218)1.86105566
71Advanced eruption of teeth (HP:0006288)1.79423563
72Ventricular tachycardia (HP:0004756)1.72730146
73Fine hair (HP:0002213)1.71798690
74Multifactorial inheritance (HP:0001426)1.70540224
75Hyperhidrosis (HP:0000975)1.70084595
76Carious teeth (HP:0000670)1.68911140
77Fair hair (HP:0002286)1.67287115
78Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.66964334
79Curly hair (HP:0002212)1.66678176
80Recurrent corneal erosions (HP:0000495)1.64401946
81Dry skin (HP:0000958)1.64270933
82Hypoplasia of dental enamel (HP:0006297)1.62881602
83Hypoplastic pelvis (HP:0008839)1.60490140
84Abnormality of small intestinal villus morphology (HP:0011472)1.59701773
85Villous atrophy (HP:0011473)1.59701773
86Acanthosis nigricans (HP:0000956)1.59696333
87Decreased circulating renin level (HP:0003351)1.59196350
88Decreased lacrimation (HP:0000633)1.58273481
89Ureteral duplication (HP:0000073)1.56342749
90Abnormality of the labia (HP:0000058)1.51808225
91Conical tooth (HP:0000698)1.51100756
92Palpitations (HP:0001962)1.50724089
93Poikiloderma (HP:0001029)1.50156662
94Skin pits (HP:0100276)1.49811330
95Corneal dystrophy (HP:0001131)1.49533101
96Depressed nasal tip (HP:0000437)1.49047661
97Neoplasm of the heart (HP:0100544)1.46049407
98Hamartoma of the eye (HP:0010568)1.45292799
99Urticaria (HP:0001025)1.44597408
100Hypergammaglobulinemia (HP:0010702)1.41749719

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.13733257
2STK244.00175174
3MST43.42013109
4FRK3.33050624
5PBK3.29820276
6MAP3K23.15394963
7FER2.97198936
8TGFBR12.92067009
9WNK12.58970545
10LATS12.54394896
11MAPKAPK32.50866066
12MAP3K62.42285942
13MAP3K92.41002747
14MST1R2.08264219
15TRPM72.01039376
16MET1.96021404
17MAPKAPK51.90519984
18STK38L1.79776895
19NME11.77713506
20MAP3K31.77150997
21BMPR1B1.70272716
22DAPK21.67380238
23ERBB31.61790989
24WNK41.56543470
25BCR1.43959510
26GRK11.41777842
27STK31.40670804
28FGFR11.35579438
29SGK2231.30781788
30SGK4941.30781788
31STK391.22298395
32OBSCN1.09609010
33MAP3K71.09431980
34CAMK1D1.09230955
35MAP4K21.05901865
36PINK11.04282862
37ADRBK21.02550588
38CDK120.99999576
39ACVR1B0.98687255
40SGK20.96980150
41MAP3K40.95055675
42EPHA30.86587385
43WNK30.84847193
44MAP2K60.84689998
45ADRBK10.81865826
46PRKCE0.79600408
47PDGFRB0.78294827
48CAMK1G0.77514890
49EPHA40.77377548
50PIK3CA0.76642575
51PRKAA20.75905037
52CASK0.73438787
53FLT30.72994792
54SGK30.70875120
55MAP3K120.68369680
56PTK20.67361993
57IKBKB0.66634122
58FGFR30.64650477
59RIPK10.63325704
60NLK0.61334127
61PIK3CG0.60925842
62ZAK0.59114762
63NUAK10.57612756
64TAOK30.57092446
65IRAK10.57047409
66PRKCI0.55166491
67STK380.54182252
68SGK10.52296249
69INSRR0.51448414
70RPS6KB20.50343200
71EIF2AK30.50336139
72RPS6KB10.49370448
73MAPK70.49363574
74OXSR10.47105167
75TYRO30.46351907
76GRK60.42486504
77ABL10.42256929
78PHKG20.39671479
79PHKG10.39671479
80PAK30.37832843
81EGFR0.34254436
82CHUK0.33911687
83ERBB20.33831236
84MAPKAPK20.33228190
85IGF1R0.32719687
86BMX0.29396492
87MAP2K10.29029016
88CSNK1A1L0.28354512
89BLK0.26909897
90BRSK20.26755714
91NEK60.22350502
92PRKAA10.21985660
93CSNK1E0.21239107
94MTOR0.19646037
95TXK0.19511274
96TRIM280.18928269
97CSNK1D0.18816128
98NTRK20.18709880
99PKN10.18268873
100JAK30.17454486

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005925.61619108
2Linoleic acid metabolism_Homo sapiens_hsa005914.48577313
3Ether lipid metabolism_Homo sapiens_hsa005653.52684439
4Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006013.44993798
5Phototransduction_Homo sapiens_hsa047443.21326878
6Arachidonic acid metabolism_Homo sapiens_hsa005903.01006768
7Circadian rhythm_Homo sapiens_hsa047102.77264533
8Sphingolipid metabolism_Homo sapiens_hsa006002.18205087
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.05277359
10ECM-receptor interaction_Homo sapiens_hsa045121.98222385
11Ovarian steroidogenesis_Homo sapiens_hsa049131.94637098
12Salivary secretion_Homo sapiens_hsa049701.90280587
13Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.84998131
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.65795078
15GnRH signaling pathway_Homo sapiens_hsa049121.53922803
16Long-term depression_Homo sapiens_hsa047301.49177327
17Histidine metabolism_Homo sapiens_hsa003401.46827450
18Dorso-ventral axis formation_Homo sapiens_hsa043201.46748488
19Vascular smooth muscle contraction_Homo sapiens_hsa042701.41857361
20Serotonergic synapse_Homo sapiens_hsa047261.39855748
21Amoebiasis_Homo sapiens_hsa051461.29391175
22Steroid hormone biosynthesis_Homo sapiens_hsa001401.26894934
23Hedgehog signaling pathway_Homo sapiens_hsa043401.26488377
24Nitrogen metabolism_Homo sapiens_hsa009101.25579632
25Renin secretion_Homo sapiens_hsa049241.20401504
26Primary bile acid biosynthesis_Homo sapiens_hsa001201.19819059
27Glycerophospholipid metabolism_Homo sapiens_hsa005641.18590147
28Adherens junction_Homo sapiens_hsa045201.16456400
29Ras signaling pathway_Homo sapiens_hsa040141.05159300
30Basal cell carcinoma_Homo sapiens_hsa052171.02414816
31Tight junction_Homo sapiens_hsa045301.02068294
32Retinol metabolism_Homo sapiens_hsa008300.97904637
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96870828
34Choline metabolism in cancer_Homo sapiens_hsa052310.91572330
35Glutamatergic synapse_Homo sapiens_hsa047240.91413921
36p53 signaling pathway_Homo sapiens_hsa041150.89955004
37VEGF signaling pathway_Homo sapiens_hsa043700.88054718
38ABC transporters_Homo sapiens_hsa020100.86239804
39Olfactory transduction_Homo sapiens_hsa047400.84254770
40Taste transduction_Homo sapiens_hsa047420.82022874
41Hippo signaling pathway_Homo sapiens_hsa043900.80986034
42Melanogenesis_Homo sapiens_hsa049160.75411201
43Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75406073
44Circadian entrainment_Homo sapiens_hsa047130.72706705
45Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72618928
46Gastric acid secretion_Homo sapiens_hsa049710.70570878
47Chemical carcinogenesis_Homo sapiens_hsa052040.70280043
48Calcium signaling pathway_Homo sapiens_hsa040200.70145754
49Axon guidance_Homo sapiens_hsa043600.69486384
50Oxytocin signaling pathway_Homo sapiens_hsa049210.69396803
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.64984829
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61960889
53Pancreatic secretion_Homo sapiens_hsa049720.61390435
54Focal adhesion_Homo sapiens_hsa045100.60649113
55Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60383374
56Protein digestion and absorption_Homo sapiens_hsa049740.59517146
57beta-Alanine metabolism_Homo sapiens_hsa004100.58324612
58Sphingolipid signaling pathway_Homo sapiens_hsa040710.58059099
59MicroRNAs in cancer_Homo sapiens_hsa052060.57683568
60Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.57521702
61Glucagon signaling pathway_Homo sapiens_hsa049220.56453767
62Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.54059598
63Platelet activation_Homo sapiens_hsa046110.53898702
64Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.53408894
65Inositol phosphate metabolism_Homo sapiens_hsa005620.49362652
66TGF-beta signaling pathway_Homo sapiens_hsa043500.48877519
67Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47788740
68Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.46290416
69PPAR signaling pathway_Homo sapiens_hsa033200.46105337
70Pathways in cancer_Homo sapiens_hsa052000.45285327
71Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.43153371
72Tyrosine metabolism_Homo sapiens_hsa003500.42219023
73Phospholipase D signaling pathway_Homo sapiens_hsa040720.40893220
74Dopaminergic synapse_Homo sapiens_hsa047280.40611385
75MAPK signaling pathway_Homo sapiens_hsa040100.38822469
76cAMP signaling pathway_Homo sapiens_hsa040240.38585257
77Proteoglycans in cancer_Homo sapiens_hsa052050.38518725
78Endocytosis_Homo sapiens_hsa041440.38143928
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.36698435
80Glycerolipid metabolism_Homo sapiens_hsa005610.36418150
81Rap1 signaling pathway_Homo sapiens_hsa040150.36251065
82Lysine degradation_Homo sapiens_hsa003100.34253782
83Small cell lung cancer_Homo sapiens_hsa052220.32469058
84Wnt signaling pathway_Homo sapiens_hsa043100.31290254
85Butanoate metabolism_Homo sapiens_hsa006500.30370493
86PI3K-Akt signaling pathway_Homo sapiens_hsa041510.29879546
87Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29800045
88Sulfur metabolism_Homo sapiens_hsa009200.29179027
89Jak-STAT signaling pathway_Homo sapiens_hsa046300.28334819
90Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27007658
91Insulin resistance_Homo sapiens_hsa049310.26704678
92Estrogen signaling pathway_Homo sapiens_hsa049150.26166646
93Glioma_Homo sapiens_hsa052140.26073383
94Aldosterone synthesis and secretion_Homo sapiens_hsa049250.25345015
95Amphetamine addiction_Homo sapiens_hsa050310.24748706
96Bladder cancer_Homo sapiens_hsa052190.24163982
97Mineral absorption_Homo sapiens_hsa049780.23980516
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.23685334
99Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23019102
100Tryptophan metabolism_Homo sapiens_hsa003800.22103976

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