MTNR1A

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 one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1prenylation (GO:0097354)8.16698785
2protein prenylation (GO:0018342)8.16698785
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.45270563
4L-phenylalanine catabolic process (GO:0006559)7.45270563
5type B pancreatic cell proliferation (GO:0044342)7.33924767
6L-phenylalanine metabolic process (GO:0006558)7.09821239
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.09821239
8aromatic amino acid family catabolic process (GO:0009074)6.82182652
9bile acid biosynthetic process (GO:0006699)6.41851840
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.34918879
11alpha-linolenic acid metabolic process (GO:0036109)6.31627144
12tryptophan catabolic process (GO:0006569)6.25046657
13indole-containing compound catabolic process (GO:0042436)6.25046657
14indolalkylamine catabolic process (GO:0046218)6.25046657
15kynurenine metabolic process (GO:0070189)6.13000507
16wound healing, spreading of epidermal cells (GO:0035313)6.04097435
17glyoxylate metabolic process (GO:0046487)5.91004978
18tryptophan metabolic process (GO:0006568)5.87760535
19urea metabolic process (GO:0019627)5.69232556
20urea cycle (GO:0000050)5.69232556
21complement activation, alternative pathway (GO:0006957)5.66490257
22protein import into peroxisome matrix (GO:0016558)5.62451661
23regulation of protein activation cascade (GO:2000257)5.57376392
24high-density lipoprotein particle remodeling (GO:0034375)5.52539701
25negative regulation of fibrinolysis (GO:0051918)5.48487634
26fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.37984127
27regulation of fibrinolysis (GO:0051917)5.28260515
28cellular sodium ion homeostasis (GO:0006883)5.27813775
29regulation of complement activation (GO:0030449)5.25521741
30bile acid metabolic process (GO:0008206)5.25340874
31regulation of triglyceride catabolic process (GO:0010896)5.24468248
32peptidyl-glutamic acid carboxylation (GO:0017187)5.22416469
33protein carboxylation (GO:0018214)5.22416469
34cysteine metabolic process (GO:0006534)5.20430182
35nitrogen cycle metabolic process (GO:0071941)5.19903453
36sulfur amino acid catabolic process (GO:0000098)5.17682288
37peptidyl-histidine modification (GO:0018202)5.16581848
38type B pancreatic cell development (GO:0003323)5.05424418
39glandular epithelial cell development (GO:0002068)5.05377646
40aromatic amino acid family metabolic process (GO:0009072)4.93515567
41serine family amino acid catabolic process (GO:0009071)4.92919529
42homeostasis of number of cells within a tissue (GO:0048873)4.80987137
43reverse cholesterol transport (GO:0043691)4.79805601
44protein-lipid complex remodeling (GO:0034368)4.78352847
45macromolecular complex remodeling (GO:0034367)4.78352847
46plasma lipoprotein particle remodeling (GO:0034369)4.78352847
47homocysteine metabolic process (GO:0050667)4.77210628
48triglyceride homeostasis (GO:0070328)4.74974830
49acylglycerol homeostasis (GO:0055090)4.74974830
50regulation of cholesterol esterification (GO:0010872)4.74746674
51tyrosine metabolic process (GO:0006570)4.73385226
52protein targeting to peroxisome (GO:0006625)4.69305144
53establishment of protein localization to peroxisome (GO:0072663)4.69305144
54protein localization to peroxisome (GO:0072662)4.69305144
55lysine metabolic process (GO:0006553)4.67649754
56lysine catabolic process (GO:0006554)4.67649754
57bile acid and bile salt transport (GO:0015721)4.62203431
58phospholipid efflux (GO:0033700)4.59954005
59amino-acid betaine metabolic process (GO:0006577)4.58901387
60coenzyme catabolic process (GO:0009109)4.54646318
61alpha-amino acid catabolic process (GO:1901606)4.53901602
62cytolysis (GO:0019835)4.53723684
63negative regulation of cholesterol transport (GO:0032375)4.52941536
64negative regulation of sterol transport (GO:0032372)4.52941536
65respiratory chain complex IV assembly (GO:0008535)4.49452735
66indolalkylamine metabolic process (GO:0006586)4.48495394
67cellular ketone body metabolic process (GO:0046950)4.47619911
68plasma lipoprotein particle clearance (GO:0034381)4.41353756
69glycine metabolic process (GO:0006544)4.40359858
70cholesterol efflux (GO:0033344)4.28111841
71cellular glucuronidation (GO:0052695)4.27176080
72cellular biogenic amine catabolic process (GO:0042402)4.23735361
73amine catabolic process (GO:0009310)4.23735361
74acrosome reaction (GO:0007340)4.19130159
75ethanol oxidation (GO:0006069)4.18598020
76cellular amino acid catabolic process (GO:0009063)4.17936761
77synapsis (GO:0007129)4.17744642
78glutamate metabolic process (GO:0006536)4.17324315
79peroxisomal transport (GO:0043574)4.17138829
80dicarboxylic acid biosynthetic process (GO:0043650)4.14598663
81serine family amino acid metabolic process (GO:0009069)4.14231687
82imidazole-containing compound metabolic process (GO:0052803)4.13700075
83phosphorelay signal transduction system (GO:0000160)4.13674643
84spermatid development (GO:0007286)4.09693999
85arginine metabolic process (GO:0006525)4.04048421
86benzene-containing compound metabolic process (GO:0042537)3.99799312
87serine family amino acid biosynthetic process (GO:0009070)3.97753495
88very-low-density lipoprotein particle assembly (GO:0034379)3.94518544
89histone mRNA catabolic process (GO:0071044)3.94238102
90plasma lipoprotein particle assembly (GO:0034377)3.92772783
91aldehyde catabolic process (GO:0046185)3.91804000
92complement activation, classical pathway (GO:0006958)3.90503916
93positive regulation of lipid catabolic process (GO:0050996)3.89201130
94positive regulation of lipoprotein lipase activity (GO:0051006)3.88859354
95positive regulation of triglyceride lipase activity (GO:0061365)3.88859354
96branched-chain amino acid catabolic process (GO:0009083)3.88700180
97cellular modified amino acid catabolic process (GO:0042219)3.87445712
98ketone body metabolic process (GO:1902224)3.85077179
99negative regulation of fatty acid biosynthetic process (GO:0045717)3.84527402
100complement activation (GO:0006956)3.80743304
101low-density lipoprotein particle remodeling (GO:0034374)3.80017501
102fibrinolysis (GO:0042730)3.80012885
103heme transport (GO:0015886)3.79451290
104acetyl-CoA metabolic process (GO:0006084)3.78491031
105seminiferous tubule development (GO:0072520)3.77827616
106negative regulation of lipase activity (GO:0060192)3.77493758
107detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.77249003
108glucuronate metabolic process (GO:0019585)3.75576150
109uronic acid metabolic process (GO:0006063)3.75576150
110cofactor catabolic process (GO:0051187)3.71980806
111fertilization (GO:0009566)3.71497610
112protein localization to microtubule (GO:0035372)3.71031141
113cholesterol homeostasis (GO:0042632)3.70491231
114protein activation cascade (GO:0072376)3.66933290
115carboxylic acid catabolic process (GO:0046395)3.66701544
116organic acid catabolic process (GO:0016054)3.66701544
117phospholipid homeostasis (GO:0055091)3.65721053
118blood coagulation, intrinsic pathway (GO:0007597)3.65546672
119pyridine nucleotide biosynthetic process (GO:0019363)3.64299348
120nicotinamide nucleotide biosynthetic process (GO:0019359)3.64299348
121wound healing, spreading of cells (GO:0044319)3.63839377
122histone H3-K9 methylation (GO:0051567)3.63367987
123sterol homeostasis (GO:0055092)3.63348286
124opsonization (GO:0008228)3.61208060
125columnar/cuboidal epithelial cell development (GO:0002066)3.58593275
126plasma lipoprotein particle organization (GO:0071827)3.57051810
127regulation of bile acid biosynthetic process (GO:0070857)3.55593627
128short-chain fatty acid metabolic process (GO:0046459)3.55553671
129carnitine shuttle (GO:0006853)3.53608150
130left/right axis specification (GO:0070986)3.50774749
131calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.43019641
132cytochrome complex assembly (GO:0017004)3.36554964
133epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.36398612
134negative regulation of cell-matrix adhesion (GO:0001953)3.30666966
135fatty acid transmembrane transport (GO:1902001)3.25014831
136proline transport (GO:0015824)3.20588811
137multicellular organism reproduction (GO:0032504)3.07234593
138intraciliary transport (GO:0042073)3.06637376
139intracellular protein transmembrane import (GO:0044743)3.06261973
140spinal cord development (GO:0021510)3.04103817
141intracellular protein transmembrane transport (GO:0065002)3.03085046
142branched-chain amino acid metabolic process (GO:0009081)3.02950199
143carnitine transmembrane transport (GO:1902603)2.99052626
144sodium ion homeostasis (GO:0055078)2.97864705
145CENP-A containing nucleosome assembly (GO:0034080)2.96551753
146mitochondrial calcium ion transport (GO:0006851)2.94867370
147spindle assembly involved in mitosis (GO:0090307)2.93094895
148striatum development (GO:0021756)2.92680799
149positive regulation of macroautophagy (GO:0016239)2.92413319
150histone exchange (GO:0043486)2.89781537
151regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.89716621
152epithelial cilium movement (GO:0003351)2.89445129
153polyol catabolic process (GO:0046174)2.83737108
154magnesium ion transport (GO:0015693)2.81763806
155response to insecticide (GO:0017085)2.81522884
156resolution of meiotic recombination intermediates (GO:0000712)2.79753659
157mechanosensory behavior (GO:0007638)2.78326466
158chromatin remodeling at centromere (GO:0031055)2.74852619
159ncRNA 3-end processing (GO:0043628)2.74751787
160calcium ion-dependent exocytosis (GO:0017156)2.74092432
161cilium movement (GO:0003341)2.72606901
162response to xenobiotic stimulus (GO:0009410)2.72479952
163male gonad development (GO:0008584)2.72141036
164response to methylmercury (GO:0051597)2.66625470
165binding of sperm to zona pellucida (GO:0007339)2.64055304
166histone H3-K9 modification (GO:0061647)2.63710680
167peroxisome fission (GO:0016559)2.63316841
168carnitine transport (GO:0015879)2.61511944
169amino-acid betaine transport (GO:0015838)2.61511944
170axonemal dynein complex assembly (GO:0070286)2.60048787
171phosphatidylinositol phosphorylation (GO:0046854)2.59337562
172regulation of mitochondrial translation (GO:0070129)2.58585483
173peroxisome organization (GO:0007031)2.56024486
174metanephric tubule development (GO:0072170)2.54592257
175metanephric nephron tubule development (GO:0072234)2.54592257
176glucosamine-containing compound catabolic process (GO:1901072)2.53213499
177positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.53103033
178negative regulation of meiosis (GO:0045835)2.52909679
179GTP biosynthetic process (GO:0006183)2.52589560
180germ cell development (GO:0007281)2.52082490
181organ induction (GO:0001759)2.51145249
182regulation of gene expression by genetic imprinting (GO:0006349)2.50359249
183detection of chemical stimulus involved in sensory perception (GO:0050907)2.48619598
184histone H4-K12 acetylation (GO:0043983)2.48174247
185negative regulation of fibroblast apoptotic process (GO:2000270)2.46746114
186mitochondrial calcium ion homeostasis (GO:0051560)2.44161866
187retinal ganglion cell axon guidance (GO:0031290)2.43317187
188single fertilization (GO:0007338)2.41818226
189sperm-egg recognition (GO:0035036)2.41732267
190cytokine production involved in immune response (GO:0002367)2.41118661
191negative regulation of complement activation (GO:0045916)2.40708816
192genitalia morphogenesis (GO:0035112)12.6801318

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.17358508
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.13061444
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.96126466
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.42289966
5EZH2_22144423_ChIP-Seq_EOC_Human6.02367670
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.95227978
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.73467562
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.19819022
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.89224401
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.82932864
11* SALL1_21062744_ChIP-ChIP_HESCs_Human3.57951904
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.96629933
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.68873512
14GBX2_23144817_ChIP-Seq_PC3_Human2.58696514
15DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.43835458
16IGF1R_20145208_ChIP-Seq_DFB_Human2.32451865
17ZNF274_21170338_ChIP-Seq_K562_Hela2.24991603
18VDR_22108803_ChIP-Seq_LS180_Human2.02954845
19FUS_26573619_Chip-Seq_HEK293_Human2.02360798
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.5615857
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.99230868
22TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.94056858
23TP63_17297297_ChIP-ChIP_HaCaT_Human1.90661202
24HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.86113473
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.83494869
26WDR5_24793694_ChIP-Seq_LNCAP_Human1.78800458
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.73045255
28HTT_18923047_ChIP-ChIP_STHdh_Human1.70952027
29HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.66657841
30FOXA2_19822575_ChIP-Seq_HepG2_Human1.64001348
31* P300_19829295_ChIP-Seq_ESCs_Human1.62815877
32TCF4_18268006_ChIP-ChIP_LS174T_Human1.62329418
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.59514840
34KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.58963134
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58409477
36CLOCK_20551151_ChIP-Seq_293T_Human1.57906254
37GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.53660343
38EWS_26573619_Chip-Seq_HEK293_Human1.52283192
39IRF1_19129219_ChIP-ChIP_H3396_Human1.49229490
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.44192409
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.43231495
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.41361798
43ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40066630
44HNF4A_19822575_ChIP-Seq_HepG2_Human1.39514434
45FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.37657821
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36407572
47TP53_22573176_ChIP-Seq_HFKS_Human1.35837791
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.34271035
49GABP_17652178_ChIP-ChIP_JURKAT_Human1.34143259
50ER_23166858_ChIP-Seq_MCF-7_Human1.33116170
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.32975129
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.31083216
53FLI1_27457419_Chip-Seq_LIVER_Mouse1.27049610
54HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.26334938
55ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25000841
56TP53_18474530_ChIP-ChIP_U2OS_Human1.23794026
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.23122816
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23055425
59STAT3_23295773_ChIP-Seq_U87_Human1.19317318
60RUNX2_22187159_ChIP-Seq_PCA_Human1.18342910
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.17806038
62ZNF263_19887448_ChIP-Seq_K562_Human1.15905312
63TCF4_22108803_ChIP-Seq_LS180_Human1.15719359
64* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.15542364
65* TAL1_26923725_Chip-Seq_HPCs_Mouse1.15053993
66* SMAD4_21799915_ChIP-Seq_A2780_Human1.15043076
67NANOG_20526341_ChIP-Seq_ESCs_Human1.13821901
68RXRA_24833708_ChIP-Seq_LIVER_Mouse1.11393164
69BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.09149958
70BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08183153
71TCF4_23295773_ChIP-Seq_U87_Human1.07802383
72CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.07458087
73TAF15_26573619_Chip-Seq_HEK293_Human1.07170393
74AUTS2_25519132_ChIP-Seq_293T-REX_Human1.06827537
75IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.05834730
76STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02777084
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.00782525
78ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00323284
79TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.99785685
80* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99183750
81GATA3_26560356_Chip-Seq_TH1_Human0.96916165
82MYC_18940864_ChIP-ChIP_HL60_Human0.95296553
83PIAS1_25552417_ChIP-Seq_VCAP_Human0.95108162
84LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94567093
85DCP1A_22483619_ChIP-Seq_HELA_Human0.94287936
86ESR1_15608294_ChIP-ChIP_MCF-7_Human0.94168055
87SALL4_18804426_ChIP-ChIP_XEN_Mouse0.93260084
88TP63_19390658_ChIP-ChIP_HaCaT_Human0.91142799
89FLI1_21867929_ChIP-Seq_TH2_Mouse0.90730854
90NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.89105106
91PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.88840037
92KAP1_22055183_ChIP-Seq_ESCs_Mouse0.88474639
93SOX2_27498859_Chip-Seq_STOMACH_Mouse0.87759285
94CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.87481919
95PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.87467518
96ERG_20517297_ChIP-Seq_VCAP_Human0.87340327
97POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.87146779
98FOXM1_26456572_ChIP-Seq_MCF-7_Human0.86624876
99SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.86494964
100FOXA1_27270436_Chip-Seq_PROSTATE_Human0.85567701
101FOXA1_25329375_ChIP-Seq_VCAP_Human0.85567701
102EGR1_19032775_ChIP-ChIP_M12_Human0.85510847
103AR_19668381_ChIP-Seq_PC3_Human0.84882156
104TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.83057304
105KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.82511747
106RNF2_27304074_Chip-Seq_NSC_Mouse0.82509527
107NCOR_22424771_ChIP-Seq_293T_Human0.82396014
108FOXA1_21572438_ChIP-Seq_LNCaP_Human0.82103083
109SOX9_26525672_Chip-Seq_HEART_Mouse0.82002921
110CBP_21632823_ChIP-Seq_H3396_Human0.81654080
111NRF2_20460467_ChIP-Seq_MEFs_Mouse0.81313137
112NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.81313137
113GATA4_25053715_ChIP-Seq_YYC3_Human0.79963097
114* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.79561253
115GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.79533037
116STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.78733504
117CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.77910477
118GATA1_22025678_ChIP-Seq_K562_Human0.77542691
119FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.77333882
120CJUN_26792858_Chip-Seq_BT549_Human0.77281054
121PCGF2_27294783_Chip-Seq_ESCs_Mouse0.76766674
122EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.76139293
123EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.75795737
124SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72368822
125PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.71465221
126AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70797640
127RARA_24833708_ChIP-Seq_LIVER_Mouse0.70601724
128ESR1_20079471_ChIP-ChIP_T-47D_Human0.67417022
129AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.66653784
130STAT1_17558387_ChIP-Seq_HELA_Human0.66593064
131SMAD1_18555785_Chip-Seq_ESCs_Mouse0.65792717
132RUNX1_27457419_Chip-Seq_LIVER_Mouse0.64798141
133THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.64310372
134EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.63847822
135CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.63072895
136NFE2_27457419_Chip-Seq_LIVER_Mouse0.62782152
137* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.62251888
138ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.61555833
139PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.61550204
140TRIM28_21343339_ChIP-Seq_HEK293_Human0.61502617
141BCAT_22108803_ChIP-Seq_LS180_Human0.59822241
142FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.57585042
143Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.57447699
144CBP_20019798_ChIP-Seq_JUKART_Human0.57110165
145IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.57110165
146OCT4_18555785_Chip-Seq_ESCs_Mouse0.57103606
147FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.56606103
148EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.56441036
149* FOXA1_25552417_ChIP-Seq_VCAP_Human0.56200617
150PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.56002416
151ESRRB_18555785_Chip-Seq_ESCs_Mouse0.55859380
152SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.54906023
153AR_20517297_ChIP-Seq_VCAP_Human0.54520768
154KLF5_20875108_ChIP-Seq_MESCs_Mouse0.54441237
155CRX_20693478_ChIP-Seq_RETINA_Mouse0.54228959
156ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.53995521
157ESET_19884257_ChIP-Seq_ESCs_Mouse0.53273148
158PU1_27457419_Chip-Seq_LIVER_Mouse0.52981803
159SUZ12_27294783_Chip-Seq_NPCs_Mouse0.52400981
160EZH2_27294783_Chip-Seq_NPCs_Mouse0.52116106
161CTCF_18555785_Chip-Seq_ESCs_Mouse0.51010383
162P300_18555785_Chip-Seq_ESCs_Mouse0.50786386
163SMAD4_21741376_ChIP-Seq_EPCs_Human0.50113350
164PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.49831613
165FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.48943128
166SOX2_22085726_ChIP-Seq_NPCs_Mouse0.48930658
167SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.48390873
168BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.48333849
169EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.48219642
170* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.47909817
171P53_21459846_ChIP-Seq_SAOS-2_Human0.47607757
172OCT4_21477851_ChIP-Seq_ESCs_Mouse0.47513096
173SOX2_18555785_Chip-Seq_ESCs_Mouse0.47422867
174CMYC_18555785_Chip-Seq_ESCs_Mouse0.47267734
175CDX2_22108803_ChIP-Seq_LS180_Human0.45695194
176* RARB_24833708_ChIP-Seq_LIVER_Mouse0.45227440
177ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.44722345
178FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.44653320
179CTBP1_25329375_ChIP-Seq_LNCAP_Human0.44455705
180KDM2B_26808549_Chip-Seq_REH_Human0.44039484
181SUZ12_18555785_Chip-Seq_ESCs_Mouse0.43730211

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.89150462
2MP0005360_urolithiasis7.27213579
3MP0008877_abnormal_DNA_methylation7.25710278
4MP0005085_abnormal_gallbladder_physiolo6.74903477
5MP0003787_abnormal_imprinting6.61616647
6MP0005365_abnormal_bile_salt6.34460517
7MP0008875_abnormal_xenobiotic_pharmacok4.53552687
8MP0005646_abnormal_pituitary_gland4.47962907
9MP0003252_abnormal_bile_duct4.39327281
10MP0003806_abnormal_nucleotide_metabolis4.33134366
11MP0010329_abnormal_lipoprotein_level3.49743151
12MP0005248_abnormal_Harderian_gland3.28520177
13MP0003121_genomic_imprinting3.19262625
14MP0009780_abnormal_chondrocyte_physiolo2.89444490
15MP0003123_paternal_imprinting2.80882474
16MP0009840_abnormal_foam_cell2.73434648
17MP0000569_abnormal_digit_pigmentation2.66887561
18MP0005083_abnormal_biliary_tract2.65690461
19MP0001666_abnormal_nutrient_absorption2.61939273
20MP0000013_abnormal_adipose_tissue2.59168236
21MP0005332_abnormal_amino_acid2.57008914
22MP0002909_abnormal_adrenal_gland2.42646445
23MP0003195_calcinosis2.33601254
24MP0006072_abnormal_retinal_apoptosis2.29288428
25MP0003122_maternal_imprinting2.18704001
26MP0000609_abnormal_liver_physiology2.11713043
27MP0010030_abnormal_orbit_morphology2.11648363
28MP0002876_abnormal_thyroid_physiology2.06755541
29MP0002118_abnormal_lipid_homeostasis2.04466781
30MP0003724_increased_susceptibility_to2.01983968
31MP0003868_abnormal_feces_composition1.99247035
32MP0002138_abnormal_hepatobiliary_system1.90815068
33MP0005379_endocrine/exocrine_gland_phen1.90522269
34MP0004019_abnormal_vitamin_homeostasis1.82529277
35MP0002160_abnormal_reproductive_system1.78937588
36MP0005319_abnormal_enzyme/_coenzyme1.76856420
37MP0002163_abnormal_gland_morphology1.75896207
38MP0003191_abnormal_cellular_cholesterol1.75801969
39MP0004782_abnormal_surfactant_physiolog1.70967534
40MP0009697_abnormal_copulation1.70326126
41MP0002653_abnormal_ependyma_morphology1.58849952
42MP0001764_abnormal_homeostasis1.57479305
43MP0004134_abnormal_chest_morphology1.54634972
44MP0002332_abnormal_exercise_endurance1.54472935
45MP0001529_abnormal_vocalization1.50005720
46MP0002127_abnormal_cardiovascular_syste1.47002808
47MP0003705_abnormal_hypodermis_morpholog1.43954193
48MP0002249_abnormal_larynx_morphology1.41116813
49MP0005584_abnormal_enzyme/coenzyme_acti1.38647495
50MP0005647_abnormal_sex_gland1.38554039
51MP0000462_abnormal_digestive_system1.38146085
52MP0003942_abnormal_urinary_system1.37213729
53MP0002234_abnormal_pharynx_morphology1.34088754
54MP0005187_abnormal_penis_morphology1.33399918
55MP0005645_abnormal_hypothalamus_physiol1.30051976
56MP0004270_analgesia1.24177320
57MP0003656_abnormal_erythrocyte_physiolo1.23427339
58MP0003011_delayed_dark_adaptation1.20413744
59MP0004215_abnormal_myocardial_fiber1.20286203
60MP0002822_catalepsy1.19939214
61MP0005451_abnormal_body_composition1.19842089
62MP0002210_abnormal_sex_determination1.15133214
63MP0001944_abnormal_pancreas_morphology1.11605447
64MP0000598_abnormal_liver_morphology1.10299428
65MP0003186_abnormal_redox_activity1.07818387
66MP0000383_abnormal_hair_follicle1.06965148
67MP0010307_abnormal_tumor_latency1.04438224
68MP0003693_abnormal_embryo_hatching1.00717400
69MP0005253_abnormal_eye_physiology0.99676218
70MP0000631_abnormal_neuroendocrine_gland0.99351029
71MP0003567_abnormal_fetal_cardiomyocyte0.98488883
72MP0009643_abnormal_urine_homeostasis0.97583983
73MP0000604_amyloidosis0.96872175
74MP0000534_abnormal_ureter_morphology0.95921554
75MP0009763_increased_sensitivity_to0.92139925
76MP0003690_abnormal_glial_cell0.90831282
77MP0005636_abnormal_mineral_homeostasis0.90572816
78MP0005197_abnormal_uvea_morphology0.90255114
79MP0000566_synostosis0.90065291
80MP0005408_hypopigmentation0.89853214
81MP0005389_reproductive_system_phenotype0.89280783
82MP0000358_abnormal_cell_content/0.89266371
83MP0003937_abnormal_limbs/digits/tail_de0.88624899
84MP0010678_abnormal_skin_adnexa0.86250922
85MP0009764_decreased_sensitivity_to0.86154285
86MP0005195_abnormal_posterior_eye0.85570470
87MP0003698_abnormal_male_reproductive0.85484995
88MP0002693_abnormal_pancreas_physiology0.83436764
89MP0009642_abnormal_blood_homeostasis0.82712691
90MP0010368_abnormal_lymphatic_system0.81608307
91MP0001145_abnormal_male_reproductive0.80171481
92MP0002971_abnormal_brown_adipose0.79713619
93MP0009384_cardiac_valve_regurgitation0.76736021
94MP0009765_abnormal_xenobiotic_induced0.76234810
95MP0002177_abnormal_outer_ear0.75930523
96MP0006036_abnormal_mitochondrial_physio0.75142112
97MP0001968_abnormal_touch/_nociception0.74427712
98MP0005220_abnormal_exocrine_pancreas0.73674356
99MP0002078_abnormal_glucose_homeostasis0.73673135
100MP0000049_abnormal_middle_ear0.73018545
101MP0002938_white_spotting0.72968983
102MP0001929_abnormal_gametogenesis0.72907546
103MP0005376_homeostasis/metabolism_phenot0.72888469
104MP0004133_heterotaxia0.72736506
105MP0002233_abnormal_nose_morphology0.72243849
106MP0003755_abnormal_palate_morphology0.70640898
107MP0000653_abnormal_sex_gland0.70018208
108MP0005334_abnormal_fat_pad0.69232640
109MP0004957_abnormal_blastocyst_morpholog0.68725764
110MP0008469_abnormal_protein_level0.67708056
111MP0005391_vision/eye_phenotype0.67641133
112MP0005623_abnormal_meninges_morphology0.67199220
113MP0005535_abnormal_body_temperature0.66675968
114MP0002928_abnormal_bile_duct0.66175945
115MP0001293_anophthalmia0.65818948
116MP0003938_abnormal_ear_development0.65553603
117MP0003045_fibrosis0.63347906
118MP0001664_abnormal_digestion0.63114886
119MP0004130_abnormal_muscle_cell0.62926453
120MP0009046_muscle_twitch0.62302055
121MP0000639_abnormal_adrenal_gland0.62058059
122MP0002697_abnormal_eye_size0.61053130
123MP0006292_abnormal_olfactory_placode0.60158675
124MP0008057_abnormal_DNA_replication0.58861930
125MP0006035_abnormal_mitochondrial_morpho0.58530432
126MP0003329_amyloid_beta_deposits0.58414911
127MP0001286_abnormal_eye_development0.56330697
128MP0000647_abnormal_sebaceous_gland0.55115091
129MP0002254_reproductive_system_inflammat0.55068119
130MP0005084_abnormal_gallbladder_morpholo0.54553151
131MP0001661_extended_life_span0.54537671
132MP0004742_abnormal_vestibular_system0.54426085
133MP0001727_abnormal_embryo_implantation0.54334991
134MP0005670_abnormal_white_adipose0.53750112
135MP0004084_abnormal_cardiac_muscle0.52909957
136MP0010234_abnormal_vibrissa_follicle0.52325527
137MP0005266_abnormal_metabolism0.52142257
138MP0005385_cardiovascular_system_phenoty0.50876855
139MP0001544_abnormal_cardiovascular_syste0.50876855
140MP0009053_abnormal_anal_canal0.50842641
141MP0000427_abnormal_hair_cycle0.50529508
142MP0002837_dystrophic_cardiac_calcinosis0.50515467
143MP0005448_abnormal_energy_balance0.49075355
144MP0009379_abnormal_foot_pigmentation0.48857834
145MP0004381_abnormal_hair_follicle0.46334247
146MP0005410_abnormal_fertilization0.43891570
147MP0003315_abnormal_perineum_morphology0.41714315
148MP0002090_abnormal_vision0.40756689
149MP0005666_abnormal_adipose_tissue0.40530309
150MP0001756_abnormal_urination0.40317018
151MP0003953_abnormal_hormone_level0.40215633
152MP0004043_abnormal_pH_regulation0.38705964
153MP0005395_other_phenotype0.38593018
154MP0001346_abnormal_lacrimal_gland0.38471515
155MP0003890_abnormal_embryonic-extraembry0.36634883
156MP0005551_abnormal_eye_electrophysiolog0.36407602
157MP0009115_abnormal_fat_cell0.34612656
158MP0008873_increased_physiological_sensi0.34097356
159MP0002970_abnormal_white_adipose0.33561600
160MP0003699_abnormal_female_reproductive0.32603754
161MP0009672_abnormal_birth_weight0.32388665
162MP0008874_decreased_physiological_sensi0.31915770
163MP0005193_abnormal_anterior_eye0.31354239
164MP0008438_abnormal_cutaneous_collagen0.31063843
165MP0003718_maternal_effect0.29349597
166MP0001324_abnormal_eye_pigmentation0.28653933
167MP0005166_decreased_susceptibility_to0.28477664
168MP0000579_abnormal_nail_morphology0.28163214
169MP0002136_abnormal_kidney_physiology0.27759212
170MP0002168_other_aberrant_phenotype0.25928400
171MP0000230_abnormal_systemic_arterial0.25840902
172MP0002796_impaired_skin_barrier0.25296503
173MP0003638_abnormal_response/metabolism_0.24914552
174MP0003075_altered_response_to0.24693194

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.60875323
2Deep venous thrombosis (HP:0002625)7.28201063
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.04521502
4Hypobetalipoproteinemia (HP:0003563)6.86977861
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.66167384
6Prolonged partial thromboplastin time (HP:0003645)6.43458688
7Xanthomatosis (HP:0000991)6.39611848
8Complement deficiency (HP:0004431)5.94578491
9Hyperlipoproteinemia (HP:0010980)5.56521527
10Epidermoid cyst (HP:0200040)5.13014126
11Pheochromocytoma (HP:0002666)5.07383173
12Hypolipoproteinemia (HP:0010981)4.84092215
13Central scotoma (HP:0000603)4.62128183
14Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.45193903
15Abnormality of the common coagulation pathway (HP:0010990)4.43665742
16Fat malabsorption (HP:0002630)4.41267003
17Joint hemorrhage (HP:0005261)4.40712076
18Hyperammonemia (HP:0001987)4.38340813
19Hyperglycinemia (HP:0002154)4.34685000
20Neonatal hypoglycemia (HP:0001998)4.33420019
21Abnormality of complement system (HP:0005339)4.24145389
22Intestinal atresia (HP:0011100)4.17658865
23Ketosis (HP:0001946)4.09834787
24Molar tooth sign on MRI (HP:0002419)4.05739008
25Abnormality of midbrain morphology (HP:0002418)4.05739008
26Abnormality of sulfur amino acid metabolism (HP:0004339)4.05147777
27Neuroendocrine neoplasm (HP:0100634)4.04087784
28Hypochromic microcytic anemia (HP:0004840)4.01262201
29Abnormality of methionine metabolism (HP:0010901)3.99224227
30Posterior subcapsular cataract (HP:0007787)3.95238786
31Hypoalphalipoproteinemia (HP:0003233)3.92703452
32Abnormality of aspartate family amino acid metabolism (HP:0010899)3.89896104
33Bifid tongue (HP:0010297)3.88793964
34Microretrognathia (HP:0000308)3.88654694
35Abnormality of the intrinsic pathway (HP:0010989)3.82159586
36Hypoglycemic coma (HP:0001325)3.78291515
37Abnormality of pyrimidine metabolism (HP:0004353)3.73500703
38Abnormality of glutamine family amino acid metabolism (HP:0010902)3.71412435
39Conjugated hyperbilirubinemia (HP:0002908)3.65634457
40Abnormality of serine family amino acid metabolism (HP:0010894)3.60557545
41Abnormality of glycine metabolism (HP:0010895)3.60557545
42Hyperglycinuria (HP:0003108)3.50589154
43Hypercholesterolemia (HP:0003124)3.50466853
44Annular pancreas (HP:0001734)3.40561504
45Broad alveolar ridges (HP:0000187)3.38330852
46Infertility (HP:0000789)3.34453921
47Steatorrhea (HP:0002570)3.33737138
48Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.27496935
49Abnormality of fatty-acid metabolism (HP:0004359)3.21470922
50Abnormal pancreas size (HP:0012094)3.17905958
51Spontaneous abortion (HP:0005268)3.15140652
52Hyperbilirubinemia (HP:0002904)3.12776085
53Hyperglycemia (HP:0003074)3.02196415
54Pancreatic cysts (HP:0001737)3.00124726
55Acanthocytosis (HP:0001927)2.99740568
56Hepatocellular carcinoma (HP:0001402)2.99669921
57Hamartoma of the eye (HP:0010568)2.99137536
58Ketoacidosis (HP:0001993)2.98518815
59Skin nodule (HP:0200036)2.93445300
60Delayed CNS myelination (HP:0002188)2.91602685
61Abnormality of nucleobase metabolism (HP:0010932)2.88273403
62Neoplasm of the heart (HP:0100544)2.87388087
63Abnormality of serum amino acid levels (HP:0003112)2.83447889
64Abnormal gallbladder physiology (HP:0012438)2.79930905
65Cholecystitis (HP:0001082)2.79930905
66Urethral obstruction (HP:0000796)2.77022582
67Abnormal lung lobation (HP:0002101)2.74555041
68Facial hemangioma (HP:0000329)2.74196025
69Gastrointestinal atresia (HP:0002589)2.73761562
703-Methylglutaconic aciduria (HP:0003535)2.71116213
71Hyperactive renin-angiotensin system (HP:0000841)2.70494777
72Myocardial infarction (HP:0001658)2.67683407
73Nuclear cataract (HP:0100018)2.63297957
74Systemic lupus erythematosus (HP:0002725)2.62852008
75Metabolic acidosis (HP:0001942)2.61570854
76Anophthalmia (HP:0000528)2.61141001
77Cystic liver disease (HP:0006706)2.59356580
78Pancreatic fibrosis (HP:0100732)2.59058002
79True hermaphroditism (HP:0010459)2.58752854
80Hemorrhage of the eye (HP:0011885)2.55868115
81Recurrent gram-negative bacterial infections (HP:0005420)2.50551917
82Meningioma (HP:0002858)2.49711841
83Absent radius (HP:0003974)2.45694498
84Abnormality of purine metabolism (HP:0004352)2.45659753
85Neoplasm of the peripheral nervous system (HP:0100007)2.44216414
86Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.43801423
87Sensorimotor neuropathy (HP:0007141)2.43641973
88Large earlobe (HP:0009748)2.43597640
89Increased circulating renin level (HP:0000848)2.41520537
90Neoplasm of the oral cavity (HP:0100649)2.40888377
91Malnutrition (HP:0004395)2.40800943
92Abnormal gallbladder morphology (HP:0012437)2.40104518
93Spastic diplegia (HP:0001264)2.38648262
94Hypoglycemic seizures (HP:0002173)2.38211525
95Lethargy (HP:0001254)2.36765256
96Mitral stenosis (HP:0001718)2.36644329
97Scotoma (HP:0000575)2.35930028
98Cholelithiasis (HP:0001081)2.35593426
99Glioma (HP:0009733)2.35412662
100Broad palm (HP:0001169)2.33737126
101Zonular cataract (HP:0010920)2.32580737
102Abnormality of dicarboxylic acid metabolism (HP:0010995)2.31466747
103Dicarboxylic aciduria (HP:0003215)2.31466747
104Gout (HP:0001997)2.31074695
105Absent forearm bone (HP:0003953)2.28439460
106Aplasia involving forearm bones (HP:0009822)2.28439460
107Abnormality of chloride homeostasis (HP:0011422)2.26397153
108Vascular calcification (HP:0004934)2.26311450
109Milia (HP:0001056)2.25893280
110Irritability (HP:0000737)2.24092221
111Cerebral edema (HP:0002181)2.23890833
112Astrocytoma (HP:0009592)2.23830449
113Abnormality of the astrocytes (HP:0100707)2.23830449
114Horizontal nystagmus (HP:0000666)2.20994518
115Furrowed tongue (HP:0000221)2.20887645
116Neonatal onset (HP:0003623)2.19809043
117Aplasia/Hypoplasia of the spleen (HP:0010451)2.18573805
118Bicornuate uterus (HP:0000813)2.15827760
119Occipital encephalocele (HP:0002085)2.14836017
120Enlarged kidneys (HP:0000105)2.13770406
121Renal cortical cysts (HP:0000803)2.12630721
122Cardiovascular calcification (HP:0011915)2.11133695
123Abnormality of the parathyroid morphology (HP:0011766)2.09896535
124Brushfield spots (HP:0001088)2.09672266
125Rickets (HP:0002748)2.06612331
126Aplasia/Hypoplasia of the tibia (HP:0005772)2.06504953
127Late onset (HP:0003584)2.06456592
128Intellectual disability, progressive (HP:0006887)2.05734054
129Abnormality of the gallbladder (HP:0005264)2.05438473
130Conjunctival hamartoma (HP:0100780)2.04554082
131Hypophosphatemic rickets (HP:0004912)2.03207515
132Lip pit (HP:0100267)2.02894626
133Poikilocytosis (HP:0004447)2.02017643
134Preaxial hand polydactyly (HP:0001177)2.00320763
135Midline defect of the nose (HP:0004122)2.00144433
136Overgrowth (HP:0001548)1.99296934
137Thrombophlebitis (HP:0004418)1.98704097
138Hyperinsulinemic hypoglycemia (HP:0000825)1.96448604
139Sclerocornea (HP:0000647)1.95847522
140Fetal akinesia sequence (HP:0001989)1.95753255
141Depressed nasal tip (HP:0000437)1.95679528
142Abnormality of iron homeostasis (HP:0011031)1.95197726
143Hamartoma (HP:0010566)1.95030127
144Pancreatitis (HP:0001733)1.94895506
145Metabolic alkalosis (HP:0200114)1.94738571
146Glomerulonephritis (HP:0000099)1.93758982
147Amyloidosis (HP:0011034)1.92684331
148Oculomotor apraxia (HP:0000657)1.90793553
149Esophageal varix (HP:0002040)1.90188279
150Vomiting (HP:0002013)1.90185822
151Subcapsular cataract (HP:0000523)1.90112754
152Abdominal situs inversus (HP:0003363)1.89187836
153Abnormality of abdominal situs (HP:0011620)1.89187836
154Proximal placement of thumb (HP:0009623)1.87616940
155Abnormality of transition element cation homeostasis (HP:0011030)1.87105954
156Abnormal enzyme/coenzyme activity (HP:0012379)1.85096015
157Thickened nuchal skin fold (HP:0000474)1.83913565
158Pigmentary retinal degeneration (HP:0001146)1.83733421
159Spinal canal stenosis (HP:0003416)1.82164714
160Epiphyseal stippling (HP:0010655)1.82130246
161Breech presentation (HP:0001623)1.82000831
162Gingival bleeding (HP:0000225)1.81132189
163Dyschromatopsia (HP:0007641)1.80487568
164Abnormality of the nasal septum (HP:0000419)1.80290939
165Heterotopia (HP:0002282)1.79418875
166Abnormality of the sella turcica (HP:0002679)1.79196017
167Hypoplasia of the uterus (HP:0000013)1.79014948
168Bilateral microphthalmos (HP:0007633)1.78999180
169Abnormal cartilage morphology (HP:0002763)1.78193268
170Premature skin wrinkling (HP:0100678)1.78099120
171Elevated hepatic transaminases (HP:0002910)1.77121964
172Aqueductal stenosis (HP:0002410)1.76743807
173Abnormality of the alveolar ridges (HP:0006477)1.74678546
174Nephronophthisis (HP:0000090)1.74554337
175Generalized aminoaciduria (HP:0002909)1.73231272
176Oligodactyly (hands) (HP:0001180)1.72386752
177Abnormality of vitamin metabolism (HP:0100508)1.71564759
178Elevated alkaline phosphatase (HP:0003155)1.69834406
179Female pseudohermaphroditism (HP:0010458)1.69577768
180Large eyes (HP:0001090)1.69018360
181Esophageal atresia (HP:0002032)1.68859251
182Congenital sensorineural hearing impairment (HP:0008527)1.68699425
183Short phalanx of the thumb (HP:0009660)1.68546121
184Anencephaly (HP:0002323)1.68473683
185Fair hair (HP:0002286)1.67638449
186Abnormal biliary tract physiology (HP:0012439)1.67065264
187Bile duct proliferation (HP:0001408)1.67065264
188Proximal tubulopathy (HP:0000114)1.65918187
189Asplenia (HP:0001746)1.65912561

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.65075865
2MAP3K124.60725262
3MST44.44811165
4FGFR43.96936053
5SIK13.62850944
6CDK193.26554726
7ERN13.10520904
8ERBB43.07413165
9PRKD32.88720346
10NTRK32.78394219
11MUSK2.68048531
12MAP3K112.63626676
13TAOK32.56553456
14INSRR2.37243108
15MAP2K42.35073331
16PHKG22.34993205
17PHKG12.34993205
18PKN22.22478379
19SRPK12.16904100
20FLT32.05265361
21TNIK2.04829831
22DYRK1B2.02338559
23LATS11.98203324
24PDK41.94621622
25PDK31.94621622
26CDK61.91306469
27STK391.89580051
28MAPK111.86780050
29NEK91.80999292
30FRK1.75917279
31WNK41.73899312
32FGFR21.72041289
33PIK3CG1.70781378
34MST1R1.69412370
35BUB11.66614372
36MELK1.61062557
37PLK41.55904368
38ARAF1.55354957
39MAP3K71.50121468
40MARK21.49745308
41EPHA31.39351752
42EPHA21.37153696
43ACVR1B1.32392592
44TRIB31.27563135
45JAK21.22810481
46NME21.21848238
47STK381.20172319
48DAPK21.18289579
49PTK61.17503149
50ABL21.14277237
51OXSR11.09232042
52TRIM281.08742694
53MAP2K61.07948410
54FER1.06692063
55CDK41.03106860
56ERBB21.01815927
57JAK11.01292486
58TRPM71.00940900
59LATS20.97290461
60TNK20.95803364
61PBK0.95022703
62EPHB10.93870515
63TYK20.92001161
64PRKCH0.90828312
65MAP3K100.90576463
66PDK20.88727920
67GRK10.88522360
68PRKG20.87396798
69MAP3K20.87178469
70PRKCZ0.86462224
71FGFR30.85095291
72TAOK20.83936564
73PRKAA20.83273770
74MAP3K10.83254322
75STK160.83021108
76KSR20.81740428
77CASK0.80635330
78RPS6KB20.78193797
79YES10.77901451
80CAMKK20.77587598
81CDK90.74833133
82ERBB30.74753615
83NEK10.74722450
84MAP3K30.74336107
85IGF1R0.72704738
86GRK50.70588171
87PRKACG0.70129701
88STK30.70116285
89EPHB20.70013721
90MAP2K10.69952115
91TTK0.69874864
92CAMK2G0.69328551
93CAMK10.66889442
94MAP3K130.65564037
95MAPKAPK30.62466536
96PRKCI0.62364427
97OBSCN0.61556056
98PRKAA10.61509047
99PINK10.60947918
100PLK10.60714754
101EEF2K0.60407835
102MET0.58407602
103PDK10.58295757
104PKN10.56385157
105TBK10.55949196
106PAK30.55813634
107MAP3K140.55527176
108STK40.54618523
109MAPK40.53115628
110PDPK10.53017368
111RET0.52535841
112ALK0.51620860
113CAMK2A0.51123580
114NLK0.50403982
115IRAK20.49808486
116TIE10.49140697
117CSK0.48812465
118PRKCQ0.47269536
119PRKCG0.46753206
120EIF2AK10.46637402
121DYRK20.46612278
122DYRK30.45112556
123CDK50.45056993
124KSR10.44929720
125MAPK150.44453848
126RIPK10.43722876
127BCR0.42185727
128EGFR0.41166902
129MAP3K90.40779205
130CSNK1G20.40409106
131PRKCE0.40126603
132GSK3A0.39824172
133CSNK1E0.39690012
134PRKACB0.39262974
135MAP3K50.39197316
136MAP2K30.39169706
137CSNK1G10.38216221
138CDK11A0.37655627
139KDR0.37527468
140AURKB0.36816616
141ICK0.36629684
142NTRK10.36307907
143SGK4940.35830267
144SGK2230.35830267
145STK38L0.35265692
146ADRBK20.35246794
147MAP4K20.35222017
148CHEK10.34803930
149EPHA40.34654619
150NTRK20.34286331
151MARK10.34147890
152SGK30.34049453
153IRAK10.34030264
154MAPK70.34020461
155PRKG10.32669633
156PIK3CA0.31922329
157PRKCA0.31549347
158GRK60.31097251
159PNCK0.30907777
160ZAK0.30201592
161CDK180.30109802
162WNK30.30062965
163SIK30.29613678
164CAMK40.29602290
165PTK20.28990407
166CSNK1G30.28638880
167RPS6KA50.28588734
168RPS6KB10.28095636
169CDK150.26551223
170PRKACA0.23866412

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.93892760
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.27255391
3Nitrogen metabolism_Homo sapiens_hsa009103.24253306
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.19167444
5Arginine biosynthesis_Homo sapiens_hsa002202.94017963
6Protein export_Homo sapiens_hsa030602.87642078
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.84062278
8Tryptophan metabolism_Homo sapiens_hsa003802.77927778
9Complement and coagulation cascades_Homo sapiens_hsa046102.72901038
10Fatty acid degradation_Homo sapiens_hsa000712.68881055
11RNA polymerase_Homo sapiens_hsa030202.62781915
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.58442520
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.51819765
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35645253
15Butanoate metabolism_Homo sapiens_hsa006502.20617543
16Peroxisome_Homo sapiens_hsa041462.17564847
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.11780603
18Propanoate metabolism_Homo sapiens_hsa006402.06302649
19PPAR signaling pathway_Homo sapiens_hsa033202.02768584
20Fatty acid metabolism_Homo sapiens_hsa012122.02069526
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.00581045
22Olfactory transduction_Homo sapiens_hsa047401.96514234
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.86429011
24Histidine metabolism_Homo sapiens_hsa003401.81374308
25Chemical carcinogenesis_Homo sapiens_hsa052041.77804159
26Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.76693077
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.76255310
28beta-Alanine metabolism_Homo sapiens_hsa004101.69886045
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.69436093
30Retinol metabolism_Homo sapiens_hsa008301.67414784
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.66554013
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.64900349
33Pyruvate metabolism_Homo sapiens_hsa006201.56891053
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.56261969
35Staphylococcus aureus infection_Homo sapiens_hsa051501.54696275
36Bile secretion_Homo sapiens_hsa049761.53280967
37Phenylalanine metabolism_Homo sapiens_hsa003601.52868033
38Tyrosine metabolism_Homo sapiens_hsa003501.48961860
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.47138881
40Phototransduction_Homo sapiens_hsa047441.45481196
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.45439044
42Selenocompound metabolism_Homo sapiens_hsa004501.44500618
43Fatty acid elongation_Homo sapiens_hsa000621.44108269
44GABAergic synapse_Homo sapiens_hsa047271.42173015
45Caffeine metabolism_Homo sapiens_hsa002321.38594056
46Sulfur metabolism_Homo sapiens_hsa009201.35304945
47Inositol phosphate metabolism_Homo sapiens_hsa005621.34557177
48Fat digestion and absorption_Homo sapiens_hsa049751.32748262
49Nicotine addiction_Homo sapiens_hsa050331.32284128
50Starch and sucrose metabolism_Homo sapiens_hsa005001.31705190
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.28665073
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.25314493
53Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.24351480
54Purine metabolism_Homo sapiens_hsa002301.21870126
55Basal transcription factors_Homo sapiens_hsa030221.20269426
56Carbon metabolism_Homo sapiens_hsa012001.18283885
57Taste transduction_Homo sapiens_hsa047421.17677078
58ABC transporters_Homo sapiens_hsa020101.16995771
59Vitamin B6 metabolism_Homo sapiens_hsa007501.15193800
60Biosynthesis of amino acids_Homo sapiens_hsa012301.13596361
61Folate biosynthesis_Homo sapiens_hsa007901.10799337
62Homologous recombination_Homo sapiens_hsa034401.09365006
63Steroid biosynthesis_Homo sapiens_hsa001001.06237368
64Pyrimidine metabolism_Homo sapiens_hsa002401.02319584
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.01273802
66Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.01132746
67Circadian rhythm_Homo sapiens_hsa047100.98427450
68Maturity onset diabetes of the young_Homo sapiens_hsa049500.94559804
69Morphine addiction_Homo sapiens_hsa050320.94344208
70Collecting duct acid secretion_Homo sapiens_hsa049660.94182866
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93837512
72Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.92794366
73Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89128184
74Lysine degradation_Homo sapiens_hsa003100.88973823
75Basal cell carcinoma_Homo sapiens_hsa052170.86828725
76Oxidative phosphorylation_Homo sapiens_hsa001900.85842581
77Phosphatidylinositol signaling system_Homo sapiens_hsa040700.85515183
78Arginine and proline metabolism_Homo sapiens_hsa003300.85022740
79Insulin secretion_Homo sapiens_hsa049110.83554969
80Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.83457839
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81998630
82Vitamin digestion and absorption_Homo sapiens_hsa049770.81451205
83Fatty acid biosynthesis_Homo sapiens_hsa000610.79503352
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.75403673
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74858956
86RNA transport_Homo sapiens_hsa030130.72524524
87alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.71890239
88Sulfur relay system_Homo sapiens_hsa041220.70001810
89Glycerolipid metabolism_Homo sapiens_hsa005610.69882775
90Oocyte meiosis_Homo sapiens_hsa041140.68422961
91Hedgehog signaling pathway_Homo sapiens_hsa043400.68044557
92Glutathione metabolism_Homo sapiens_hsa004800.67186476
93One carbon pool by folate_Homo sapiens_hsa006700.66278520
94mRNA surveillance pathway_Homo sapiens_hsa030150.64720248
95Hippo signaling pathway_Homo sapiens_hsa043900.62725644
96Serotonergic synapse_Homo sapiens_hsa047260.62704469
97Linoleic acid metabolism_Homo sapiens_hsa005910.58695474
98Cardiac muscle contraction_Homo sapiens_hsa042600.58617601
99Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57846143
100Prion diseases_Homo sapiens_hsa050200.57674297
101Huntingtons disease_Homo sapiens_hsa050160.53425742
102Pentose phosphate pathway_Homo sapiens_hsa000300.51101759
103Tight junction_Homo sapiens_hsa045300.49721278
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48941578
105Pancreatic secretion_Homo sapiens_hsa049720.45586940
106Ribosome_Homo sapiens_hsa030100.44810229
107Regulation of autophagy_Homo sapiens_hsa041400.43987056
108Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43953578
109Axon guidance_Homo sapiens_hsa043600.43747876
110Metabolic pathways_Homo sapiens_hsa011000.43675722
111Parkinsons disease_Homo sapiens_hsa050120.43664706
112Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.40673425
113* Circadian entrainment_Homo sapiens_hsa047130.39228870
114TGF-beta signaling pathway_Homo sapiens_hsa043500.39078380
115Vibrio cholerae infection_Homo sapiens_hsa051100.38979701
116Adipocytokine signaling pathway_Homo sapiens_hsa049200.38233673
117RNA degradation_Homo sapiens_hsa030180.38198062
118Salivary secretion_Homo sapiens_hsa049700.37859511
119* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.36483281
120Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36164076
121Ovarian steroidogenesis_Homo sapiens_hsa049130.35263092
122Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33006980
123Glutamatergic synapse_Homo sapiens_hsa047240.32033494
124Protein digestion and absorption_Homo sapiens_hsa049740.31582346
125Dopaminergic synapse_Homo sapiens_hsa047280.27728960
126Glycerophospholipid metabolism_Homo sapiens_hsa005640.25623956
127Galactose metabolism_Homo sapiens_hsa000520.25204257
128Glucagon signaling pathway_Homo sapiens_hsa049220.19192468
129Insulin resistance_Homo sapiens_hsa049310.19115157
130Fructose and mannose metabolism_Homo sapiens_hsa000510.14708795
131Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.13296410
132AMPK signaling pathway_Homo sapiens_hsa041520.08578374
133Thyroid hormone synthesis_Homo sapiens_hsa049180.08038768
134Autoimmune thyroid disease_Homo sapiens_hsa053200.04462312
135Ether lipid metabolism_Homo sapiens_hsa005650.02085140
136Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.2139836
137FoxO signaling pathway_Homo sapiens_hsa04068-0.2127583
138Mineral absorption_Homo sapiens_hsa04978-0.1925025
139Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1879420
140Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1852262
141Dorso-ventral axis formation_Homo sapiens_hsa04320-0.1810766
142Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1810034
143Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1460456
144Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1014647
145Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1000016
146Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0970416
147Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0930918
148Type II diabetes mellitus_Homo sapiens_hsa04930-0.0589500
149Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0486996
150Insulin signaling pathway_Homo sapiens_hsa04910-0.0299446
151Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.0283308
152Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0095421

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