LHCGR

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 the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular response to follicle-stimulating hormone stimulus (GO:0071372)9.35817127
2cellular response to cadmium ion (GO:0071276)9.25112622
3estrogen metabolic process (GO:0008210)9.08164923
4ribosomal small subunit assembly (GO:0000028)8.81654611
5ovulation cycle (GO:0042698)7.28176128
6progesterone metabolic process (GO:0042448)7.25688364
7regulation of gonadotropin secretion (GO:0032276)6.72286448
8response to follicle-stimulating hormone (GO:0032354)6.66405641
9negative regulation of macrophage differentiation (GO:0045650)6.55865478
10parturition (GO:0007567)6.48161860
11C21-steroid hormone biosynthetic process (GO:0006700)6.28437370
12glucosamine-containing compound catabolic process (GO:1901072)6.08520749
13androgen metabolic process (GO:0008209)6.06887740
14viral transcription (GO:0019083)5.94522199
15definitive hemopoiesis (GO:0060216)5.89417813
16cellular response to antibiotic (GO:0071236)5.74637168
17response to interferon-alpha (GO:0035455)5.68094829
18translational termination (GO:0006415)5.64102867
19platelet dense granule organization (GO:0060155)5.48878625
20glucocorticoid biosynthetic process (GO:0006704)5.29721575
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.27856253
22cilium or flagellum-dependent cell motility (GO:0001539)5.22655462
23negative regulation of erythrocyte differentiation (GO:0045647)5.18844761
24low-density lipoprotein particle clearance (GO:0034383)5.15623311
25* cellular response to gonadotropin stimulus (GO:0071371)5.10961245
26hindbrain development (GO:0030902)5.00694281
27hormone biosynthetic process (GO:0042446)4.95169473
28translational elongation (GO:0006414)4.79796384
29mating behavior (GO:0007617)4.75010230
30SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.74553240
31ketone biosynthetic process (GO:0042181)4.68269679
32response to insecticide (GO:0017085)4.67265540
33response to epinephrine (GO:0071871)4.65328374
34cotranslational protein targeting to membrane (GO:0006613)4.63893392
35protein targeting to ER (GO:0045047)4.63501804
36phosphate ion homeostasis (GO:0055062)4.61132269
37trivalent inorganic anion homeostasis (GO:0072506)4.61132269
38antigen processing and presentation via MHC class Ib (GO:0002475)4.58748022
39striated muscle atrophy (GO:0014891)4.50768427
40protein localization to endoplasmic reticulum (GO:0070972)4.48895618
41C21-steroid hormone metabolic process (GO:0008207)4.48283222
42glucocorticoid metabolic process (GO:0008211)4.44883041
43establishment of protein localization to endoplasmic reticulum (GO:0072599)4.44251396
44positive regulation of fatty acid oxidation (GO:0046321)4.35431397
45response to vitamin E (GO:0033197)4.30643617
46viral life cycle (GO:0019058)4.29194912
47fatty acid transmembrane transport (GO:1902001)4.26916858
48skeletal muscle adaptation (GO:0043501)4.18791172
49nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.17943675
50ribosomal small subunit biogenesis (GO:0042274)4.09175039
51cellular protein complex disassembly (GO:0043624)4.02667190
52hemoglobin metabolic process (GO:0020027)3.98751749
53epoxygenase P450 pathway (GO:0019373)3.94752721
54carnitine shuttle (GO:0006853)3.92703560
55response to interferon-beta (GO:0035456)3.88490414
56vitamin D metabolic process (GO:0042359)3.86191213
57sulfation (GO:0051923)3.84743919
58cellular response to toxic substance (GO:0097237)3.83737545
59cytokine metabolic process (GO:0042107)3.81726309
60response to phenylpropanoid (GO:0080184)3.68921936
61regulation of lipoprotein metabolic process (GO:0050746)3.65103285
62positive regulation of receptor internalization (GO:0002092)3.65062570
63regulation of fatty acid oxidation (GO:0046320)3.64873054
64megakaryocyte development (GO:0035855)3.60445659
65purine-containing compound salvage (GO:0043101)3.60356410
66muscle atrophy (GO:0014889)3.60007859
67protein complex disassembly (GO:0043241)3.58265192
68translational initiation (GO:0006413)3.56451480
69decidualization (GO:0046697)3.55675417
70neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.55136695
71phospholipid scrambling (GO:0017121)3.52612957
72positive regulation of respiratory burst (GO:0060267)3.50771478
73cellular response to epinephrine stimulus (GO:0071872)3.50440603
74intracellular lipid transport (GO:0032365)3.47000244
75response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.45005011
76endosome to melanosome transport (GO:0035646)3.43998572
77endosome to pigment granule transport (GO:0043485)3.43998572
78auditory behavior (GO:0031223)3.43650934
79regulation of B cell differentiation (GO:0045577)3.43436493
80Leydig cell differentiation (GO:0033327)3.43277266
81carnitine transmembrane transport (GO:1902603)3.38972464
82maturation of SSU-rRNA (GO:0030490)3.37810443
83secretory granule organization (GO:0033363)3.36253641
84* ovarian follicle development (GO:0001541)3.36139514
85antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.32482563
86antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.32482563
87* response to gonadotropin (GO:0034698)3.32308144
88neuronal action potential propagation (GO:0019227)3.31928148
89deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.29278889
90macromolecular complex disassembly (GO:0032984)3.28980201
91regulation of cAMP-dependent protein kinase activity (GO:2000479)3.28462423
92cellular response to dexamethasone stimulus (GO:0071549)3.27505130
93sex determination (GO:0007530)3.23476894
94positive regulation of fatty acid beta-oxidation (GO:0032000)3.19752265
95positive regulation of male gonad development (GO:2000020)3.18724956
96negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)3.18584679
97positive regulation of epidermal cell differentiation (GO:0045606)3.18393907
98regulation of sequestering of triglyceride (GO:0010889)3.17484847
99regulation of male gonad development (GO:2000018)3.17121179
100positive regulation of natural killer cell differentiation (GO:0032825)3.16880852
101regulation of macrophage differentiation (GO:0045649)3.16052462
102cellular response to growth hormone stimulus (GO:0071378)3.14377279
103positive regulation of gamma-delta T cell activation (GO:0046645)3.12340591
104regulation of natural killer cell differentiation (GO:0032823)3.12078739
105cellular response to interferon-alpha (GO:0035457)3.11091310
106regulation of energy homeostasis (GO:2000505)3.10332498
107sterol catabolic process (GO:0016127)3.08357563
108cholesterol catabolic process (GO:0006707)3.08357563
109protein targeting to membrane (GO:0006612)3.03909432
110carnitine transport (GO:0015879)3.03487673
111amino-acid betaine transport (GO:0015838)3.03487673
112tongue development (GO:0043586)3.03186727
113response to leptin (GO:0044321)3.02343592
114regulation of transforming growth factor beta2 production (GO:0032909)3.01697613
115cellular response to ATP (GO:0071318)2.99024834
116flavonoid metabolic process (GO:0009812)2.98051130
117benzene-containing compound metabolic process (GO:0042537)2.98018024
118response to dexamethasone (GO:0071548)2.97678546
119negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.95576373
120negative regulation of translation, ncRNA-mediated (GO:0040033)2.95576373
121regulation of translation, ncRNA-mediated (GO:0045974)2.95576373
122smooth muscle tissue development (GO:0048745)2.95173542
123triglyceride catabolic process (GO:0019433)2.94928890
124regulation of female gonad development (GO:2000194)2.93622277
125detection of mechanical stimulus involved in sensory perception (GO:0050974)2.92144024
126activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.91408752
127regulation of neuron projection regeneration (GO:0070570)2.86068782
128regulation of axon regeneration (GO:0048679)2.86068782
129regulation of respiratory burst (GO:0060263)2.85787345
130cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.85747925
131adhesion of symbiont to host (GO:0044406)2.84845281
132glycoprotein catabolic process (GO:0006516)2.84792918
133amino sugar catabolic process (GO:0046348)2.84318884
134mature B cell differentiation involved in immune response (GO:0002313)2.84271025
135heparin metabolic process (GO:0030202)2.83151558
136heparin biosynthetic process (GO:0030210)2.83151558
137negative regulation of cytokine biosynthetic process (GO:0042036)2.79493353
138regulation of interferon-gamma biosynthetic process (GO:0045072)2.77216148
139positive regulation of mitochondrial fission (GO:0090141)2.76927619
140embryonic hemopoiesis (GO:0035162)2.76299124
141response to dietary excess (GO:0002021)2.74867346
142steroid catabolic process (GO:0006706)2.74797140
143L-fucose metabolic process (GO:0042354)2.74317711
144L-fucose catabolic process (GO:0042355)2.74317711
145axonemal dynein complex assembly (GO:0070286)2.73040211
146response to monoamine (GO:0071867)2.68465066
147response to catecholamine (GO:0071869)2.68465066
148phagocytosis, recognition (GO:0006910)2.67227206
149negative regulation of smooth muscle cell differentiation (GO:0051151)2.67156943
150regulation of axon extension involved in axon guidance (GO:0048841)2.63579908
151detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.63278651
152keratan sulfate catabolic process (GO:0042340)2.61181711
153gamma-aminobutyric acid transport (GO:0015812)2.61117717
154lymphangiogenesis (GO:0001946)2.59763303
155chemosensory behavior (GO:0007635)2.59456958
156bone resorption (GO:0045453)2.59438086
157regulation of protein polyubiquitination (GO:1902914)2.57851052
158axon extension involved in axon guidance (GO:0048846)2.56008563
159neuron projection extension involved in neuron projection guidance (GO:1902284)2.56008563
160brown fat cell differentiation (GO:0050873)2.53014542
161establishment of protein localization to vacuole (GO:0072666)2.51855177
162protein targeting to vacuole (GO:0006623)2.51855177
163protein targeting to lysosome (GO:0006622)2.51855177
164regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.50938860
165plasma lipoprotein particle clearance (GO:0034381)2.50835125
166startle response (GO:0001964)2.50641608
167JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.50497443
168positive regulation of vascular permeability (GO:0043117)2.50241560
169regulation of collateral sprouting (GO:0048670)2.49677149
170lipid translocation (GO:0034204)2.48109129
171phospholipid translocation (GO:0045332)2.48109129
172serotonin metabolic process (GO:0042428)2.47630858
173neutral lipid catabolic process (GO:0046461)2.47049634
174acylglycerol catabolic process (GO:0046464)2.47049634
175regulation of glycolytic process (GO:0006110)2.45978065
176retina vasculature morphogenesis in camera-type eye (GO:0061299)2.45274832
177galactose metabolic process (GO:0006012)2.44562780
178protein localization to synapse (GO:0035418)2.43467026
179peripheral nervous system development (GO:0007422)2.42270558
180purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.41736436
1813-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.41736436
182skeletal muscle organ development (GO:0060538)2.41250176
183estrogen biosynthetic process (GO:0006703)19.1825606
184androgen biosynthetic process (GO:0006702)11.9195149

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SCL_19346495_ChIP-Seq_HPC-7_Human6.63461924
2EZH2_22144423_ChIP-Seq_EOC_Human4.00917742
3RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.81910948
4GBX2_23144817_ChIP-Seq_PC3_Human3.78694359
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.69943824
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.59940618
7ESR1_15608294_ChIP-ChIP_MCF-7_Human3.58414979
8RBPJ_22232070_ChIP-Seq_NCS_Mouse3.55040970
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.43714788
10LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.37175630
11BP1_19119308_ChIP-ChIP_Hs578T_Human3.18788174
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.13348584
13TAL1_20887958_ChIP-Seq_HPC-7_Mouse3.10152543
14IRF8_22096565_ChIP-ChIP_GC-B_Human3.08393811
15TAF15_26573619_Chip-Seq_HEK293_Human2.99479491
16SRY_22984422_ChIP-ChIP_TESTIS_Rat2.99431203
17GATA1_22025678_ChIP-Seq_K562_Human2.94889335
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.72849619
19FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.62401801
20EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.60685771
21SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.56535991
22CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.52871619
23LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.51302228
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42935068
25PIAS1_25552417_ChIP-Seq_VCAP_Human2.40288575
26MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.38417842
27STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.36554858
28MYC_18555785_ChIP-Seq_MESCs_Mouse2.35216056
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.29037565
30SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.20842414
31CDX2_19796622_ChIP-Seq_MESCs_Mouse2.14151773
32NOTCH1_21737748_ChIP-Seq_TLL_Human2.08707333
33SPI1_23547873_ChIP-Seq_NB4_Human2.07540617
34GATA2_21666600_ChIP-Seq_HMVEC_Human2.01660806
35FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.00803237
36GATA1_22383799_ChIP-Seq_G1ME_Mouse2.00008382
37ERG_20887958_ChIP-Seq_HPC-7_Mouse1.95351439
38RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.94674126
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.94392001
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.94388154
41EED_16625203_ChIP-ChIP_MESCs_Mouse1.87912931
42SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.84294258
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.82639942
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.81943668
45VDR_22108803_ChIP-Seq_LS180_Human1.81395782
46MYB_21317192_ChIP-Seq_ERMYB_Mouse1.80161922
47P300_19829295_ChIP-Seq_ESCs_Human1.78590674
48ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.77646941
49SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.75702510
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74599049
51AR_25329375_ChIP-Seq_VCAP_Human1.74521271
52HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.73904895
53SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71979237
54* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.69567111
55GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.67455138
56* TP53_16413492_ChIP-PET_HCT116_Human1.66843827
57RNF2_18974828_ChIP-Seq_MESCs_Mouse1.65425218
58EZH2_18974828_ChIP-Seq_MESCs_Mouse1.65425218
59NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.62136616
60NRF2_20460467_ChIP-Seq_MEFs_Mouse1.62136616
61CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62114799
62SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.60844199
63SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.57509633
64SPI1_23127762_ChIP-Seq_K562_Human1.54946101
65SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.54918196
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.54696681
67SMAD4_21799915_ChIP-Seq_A2780_Human1.54261549
68ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.53966123
69* STAT3_23295773_ChIP-Seq_U87_Human1.53651499
70BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.53071838
71RUNX1_22412390_ChIP-Seq_EML_Mouse1.51928893
72VDR_24763502_ChIP-Seq_THP-1_Human1.51666003
73GATA2_22383799_ChIP-Seq_G1ME_Mouse1.51327371
74* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50982927
75GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.50611125
76SMAD3_21741376_ChIP-Seq_EPCs_Human1.50341256
77PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.48540844
78EWS_26573619_Chip-Seq_HEK293_Human1.47743049
79SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47717152
80TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.47319009
81GATA1_19941827_ChIP-Seq_MEL_Mouse1.46763123
82ZNF217_24962896_ChIP-Seq_MCF-7_Human1.46445043
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.45984148
84GATA1_19941826_ChIP-Seq_K562_Human1.44229216
85TCF7_22412390_ChIP-Seq_EML_Mouse1.43517267
86CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.42943125
87TP63_17297297_ChIP-ChIP_HaCaT_Human1.42910455
88RUNX_20019798_ChIP-Seq_JUKART_Human1.42594442
89TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41738217
90TCF4_23295773_ChIP-Seq_U87_Human1.41400030
91PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39876680
92STAT4_19710469_ChIP-ChIP_TH1__Mouse1.39383508
93SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.39366829
94CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37976338
95EP300_21415370_ChIP-Seq_HL-1_Mouse1.36892524
96ARNT_22903824_ChIP-Seq_MCF-7_Human1.36722518
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36626262
98CBX2_27304074_Chip-Seq_ESCs_Mouse1.36366613
99MYC_22102868_ChIP-Seq_BL_Human1.34779092
100EZH2_27304074_Chip-Seq_ESCs_Mouse1.33758141
101PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32689560
102MAF_26560356_Chip-Seq_TH1_Human1.32565993
103ESR1_20079471_ChIP-ChIP_T-47D_Human1.30604044
104JARID2_20064375_ChIP-Seq_MESCs_Mouse1.30000070
105MTF2_20144788_ChIP-Seq_MESCs_Mouse1.29861722
106RNF2_27304074_Chip-Seq_ESCs_Mouse1.29819827
107RUNX2_22187159_ChIP-Seq_PCA_Human1.29560299
108TP53_18474530_ChIP-ChIP_U2OS_Human1.29449352
109* CJUN_26792858_Chip-Seq_BT549_Human1.27927163
110AHR_22903824_ChIP-Seq_MCF-7_Human1.26650677
111AR_21572438_ChIP-Seq_LNCaP_Human1.26503168
112FUS_26573619_Chip-Seq_HEK293_Human1.25794749
113SRF_21415370_ChIP-Seq_HL-1_Mouse1.25581450
114MYB_26560356_Chip-Seq_TH2_Human1.25452592
115CTCF_18555785_ChIP-Seq_MESCs_Mouse1.25283602
116VDR_21846776_ChIP-Seq_THP-1_Human1.25175395
117NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24993154
118CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.24856033
119BCAT_22108803_ChIP-Seq_LS180_Human1.23097965
120VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.22687788
121NR3C1_23031785_ChIP-Seq_PC12_Mouse1.22317964
122SMAD3_21741376_ChIP-Seq_HESCs_Human1.21545295
123JARID2_20075857_ChIP-Seq_MESCs_Mouse1.20946976
124RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20891858
125NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.20084636
126IGF1R_20145208_ChIP-Seq_DFB_Human1.19483185
127DROSHA_22980978_ChIP-Seq_HELA_Human1.18780120
128PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.17597644
129EZH2_27294783_Chip-Seq_ESCs_Mouse1.17536437
130WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17014052
131TRIM28_21343339_ChIP-Seq_HEK293_Human1.16962090
132RXR_22108803_ChIP-Seq_LS180_Human1.16707494
133SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.15286106
134CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.15051273
135SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.14821515
136ELF1_17652178_ChIP-ChIP_JURKAT_Human1.14723503
137YAP1_20516196_ChIP-Seq_MESCs_Mouse1.13136345
138KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.12873175
139TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12712813
140* SOX2_21211035_ChIP-Seq_LN229_Gbm1.12697787
141NCOR1_26117541_ChIP-Seq_K562_Human1.12666984
142HTT_18923047_ChIP-ChIP_STHdh_Human1.11909396
143UTX_26944678_Chip-Seq_JUKART_Human1.11316187
144POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11147610
145TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11147610
146TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10137841
147KDM2B_26808549_Chip-Seq_REH_Human1.09034327
148BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08153046
149PRDM14_20953172_ChIP-Seq_ESCs_Human1.08098683
150TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08050105
151FLI1_27457419_Chip-Seq_LIVER_Mouse1.07817857
152ELK3_25401928_ChIP-Seq_HUVEC_Human1.07762305
153IRF8_21731497_ChIP-ChIP_J774_Mouse1.07650357
154TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07449496
155* AR_19668381_ChIP-Seq_PC3_Human1.07319631
156RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.06892306
157RNF2_27304074_Chip-Seq_NSC_Mouse1.06703938
158ER_23166858_ChIP-Seq_MCF-7_Human1.05789396
159GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05401856
160STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.05228413
161ELK1_19687146_ChIP-ChIP_HELA_Human1.04882226
162EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04325328
163NANOG_18555785_Chip-Seq_ESCs_Mouse1.04217582
164MYB_26560356_Chip-Seq_TH1_Human1.04184296
165GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03951824
166SMAD4_21741376_ChIP-Seq_EPCs_Human1.03909042
167ETS1_22383799_ChIP-Seq_G1ME_Mouse1.03273574
168FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.02773145
169EST1_17652178_ChIP-ChIP_JURKAT_Human1.02233581
170MYC_19079543_ChIP-ChIP_MESCs_Mouse1.01724666
171TBX3_20139965_ChIP-Seq_MESCs_Mouse1.00880682
172TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00510094
173SMAD_19615063_ChIP-ChIP_OVARY_Human0.99850885
174NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99630743
175FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.98263684
176SPI1_20517297_ChIP-Seq_HL60_Human0.97965164
177MYC_18358816_ChIP-ChIP_MESCs_Mouse0.93296066
178SOX2_18692474_ChIP-Seq_MEFs_Mouse0.93156599
179NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.92456400
180GATA3_26560356_Chip-Seq_TH2_Human0.91870578
181CTCF_21964334_ChIP-Seq_BJAB-B_Human0.91556737
182SA1_27219007_Chip-Seq_ERYTHROID_Human0.88724981
183STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88566626
184ESR1_21235772_ChIP-Seq_MCF-7_Human0.88370478
185MAF_26560356_Chip-Seq_TH2_Human0.88140730
186ZFX_18555785_ChIP-Seq_MESCs_Mouse0.84602604
187FOXP3_21729870_ChIP-Seq_TREG_Human0.84301380
188DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83061779
189IRF8_27001747_Chip-Seq_BMDM_Mouse0.82560472
190SALL4_22934838_ChIP-ChIP_CD34+_Human0.81444358
191E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.80879724
192CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.80877297
193BCL6_27268052_Chip-Seq_Bcells_Human0.79892560
194GATA2_19941826_ChIP-Seq_K562_Human0.79889537
195HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.78660643
196FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78396144
197GATA3_27048872_Chip-Seq_THYMUS_Human0.76652556

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002909_abnormal_adrenal_gland4.28394725
2MP0004147_increased_porphyrin_level4.25213624
3MP0008995_early_reproductive_senescence3.83589238
4MP0009379_abnormal_foot_pigmentation3.69345535
5MP0002822_catalepsy3.58857933
6MP0005646_abnormal_pituitary_gland3.38322486
7MP0004808_abnormal_hematopoietic_stem3.21474085
8MP0002396_abnormal_hematopoietic_system3.19322533
9MP0010368_abnormal_lymphatic_system2.88090928
10MP0005666_abnormal_adipose_tissue2.75591622
11MP0005464_abnormal_platelet_physiology2.73363508
12MP0003646_muscle_fatigue2.73108756
13MP0001545_abnormal_hematopoietic_system2.58500270
14MP0005397_hematopoietic_system_phenotyp2.58500270
15MP0003195_calcinosis2.56880236
16MP0005075_abnormal_melanosome_morpholog2.55156837
17MP0000465_gastrointestinal_hemorrhage2.43218271
18MP0009278_abnormal_bone_marrow2.39792368
19MP0002166_altered_tumor_susceptibility2.33680060
20MP0001661_extended_life_span2.29227184
21* MP0005647_abnormal_sex_gland2.16498681
22MP0006054_spinal_hemorrhage2.09415915
23MP0002735_abnormal_chemical_nociception2.08246009
24MP0004130_abnormal_muscle_cell2.07012481
25MP0000685_abnormal_immune_system2.04319428
26MP0002095_abnormal_skin_pigmentation2.01342478
27MP0001727_abnormal_embryo_implantation1.99801531
28MP0005174_abnormal_tail_pigmentation1.92022727
29MP0004924_abnormal_behavior1.91277434
30MP0005386_behavior/neurological_phenoty1.91277434
31* MP0000639_abnormal_adrenal_gland1.90684334
32MP0005503_abnormal_tendon_morphology1.89012747
33MP0005671_abnormal_response_to1.85709166
34MP0001486_abnormal_startle_reflex1.85147357
35MP0002876_abnormal_thyroid_physiology1.84378054
36MP0003283_abnormal_digestive_organ1.84105041
37MP0003943_abnormal_hepatobiliary_system1.83467325
38MP0003959_abnormal_lean_body1.81917585
39MP0002971_abnormal_brown_adipose1.81069783
40MP0001835_abnormal_antigen_presentation1.80466251
41MP0005375_adipose_tissue_phenotype1.79077577
42MP0009785_altered_susceptibility_to1.79063969
43MP0004510_myositis1.73778090
44MP0005167_abnormal_blood-brain_barrier1.65695439
45MP0002009_preneoplasia1.62213245
46MP0005257_abnormal_intraocular_pressure1.60096503
47MP0000490_abnormal_crypts_of1.56894548
48* MP0005334_abnormal_fat_pad1.54866531
49* MP0001919_abnormal_reproductive_system1.54211724
50MP0010329_abnormal_lipoprotein_level1.49827580
51MP0002736_abnormal_nociception_after1.49814399
52MP0009115_abnormal_fat_cell1.46853166
53MP0001851_eye_inflammation1.44626043
54MP0003878_abnormal_ear_physiology1.44103101
55MP0005377_hearing/vestibular/ear_phenot1.44103101
56MP0001879_abnormal_lymphatic_vessel1.44048662
57MP0001501_abnormal_sleep_pattern1.42477444
58MP0002148_abnormal_hypersensitivity_rea1.41670210
59MP0004185_abnormal_adipocyte_glucose1.40843939
60MP0006035_abnormal_mitochondrial_morpho1.39412779
61MP0005448_abnormal_energy_balance1.38623680
62MP0004233_abnormal_muscle_weight1.38058155
63MP0010155_abnormal_intestine_physiology1.37625258
64MP0003724_increased_susceptibility_to1.36639973
65MP0002398_abnormal_bone_marrow1.36488196
66MP0005083_abnormal_biliary_tract1.36211455
67MP0002733_abnormal_thermal_nociception1.34799836
68MP0000681_abnormal_thyroid_gland1.34287631
69MP0001853_heart_inflammation1.33804783
70MP0005275_abnormal_skin_tensile1.32222798
71MP0001765_abnormal_ion_homeostasis1.29391218
72MP0001968_abnormal_touch/_nociception1.28820831
73MP0002006_tumorigenesis1.28481870
74MP0001958_emphysema1.28409345
75MP0005025_abnormal_response_to1.27250810
76MP0003866_abnormal_defecation1.25215572
77* MP0000689_abnormal_spleen_morphology1.23947730
78MP0001970_abnormal_pain_threshold1.22829853
79MP0009384_cardiac_valve_regurgitation1.21162545
80MP0003136_yellow_coat_color1.18743972
81MP0005645_abnormal_hypothalamus_physiol1.15524865
82MP0002420_abnormal_adaptive_immunity1.14411666
83MP0003941_abnormal_skin_development1.13799297
84* MP0001119_abnormal_female_reproductive1.13461822
85MP0005551_abnormal_eye_electrophysiolog1.12918404
86MP0001819_abnormal_immune_cell1.11784909
87MP0004215_abnormal_myocardial_fiber1.11638383
88MP0002970_abnormal_white_adipose1.10745103
89MP0008775_abnormal_heart_ventricle1.10227595
90MP0003119_abnormal_digestive_system1.09690908
91MP0004272_abnormal_basement_membrane1.08553314
92MP0005670_abnormal_white_adipose1.08290829
93* MP0002722_abnormal_immune_system1.07628865
94MP0003868_abnormal_feces_composition1.07343398
95* MP0005389_reproductive_system_phenotype1.06431075
96MP0003763_abnormal_thymus_physiology1.05939147
97MP0001440_abnormal_grooming_behavior1.05486135
98MP0002118_abnormal_lipid_homeostasis1.05364149
99MP0002429_abnormal_blood_cell1.04014518
100MP0005636_abnormal_mineral_homeostasis1.03808672
101MP0009046_muscle_twitch1.03266189
102MP0005535_abnormal_body_temperature1.02006444
103MP0005365_abnormal_bile_salt1.01595152
104MP0000716_abnormal_immune_system1.00893984
105MP0003690_abnormal_glial_cell0.99788869
106MP0002067_abnormal_sensory_capabilities0.99659766
107MP0006276_abnormal_autonomic_nervous0.99119495
108MP0002139_abnormal_hepatobiliary_system0.97304472
109MP0008875_abnormal_xenobiotic_pharmacok0.96920215
110MP0001299_abnormal_eye_distance/0.96364944
111MP0005595_abnormal_vascular_smooth0.95502401
112MP0008004_abnormal_stomach_pH0.94778760
113MP0002452_abnormal_antigen_presenting0.94645199
114MP0001664_abnormal_digestion0.94298203
115MP0004036_abnormal_muscle_relaxation0.94219888
116MP0001542_abnormal_bone_strength0.93526600
117* MP0000653_abnormal_sex_gland0.92783524
118MP0002160_abnormal_reproductive_system0.91923109
119MP0004084_abnormal_cardiac_muscle0.91337575
120MP0003786_premature_aging0.91280588
121MP0002723_abnormal_immune_serum0.91097057
122MP0001800_abnormal_humoral_immune0.90717238
123MP0002128_abnormal_blood_circulation0.90673974
124* MP0001929_abnormal_gametogenesis0.89466500
125* MP0001145_abnormal_male_reproductive0.89364895
126MP0003890_abnormal_embryonic-extraembry0.89167741
127MP0000631_abnormal_neuroendocrine_gland0.87250127
128* MP0002210_abnormal_sex_determination0.86864300
129MP0000015_abnormal_ear_pigmentation0.86615837
130* MP0003699_abnormal_female_reproductive0.85675036
131MP0001666_abnormal_nutrient_absorption0.85088169
132MP0000427_abnormal_hair_cycle0.84505248
133MP0003183_abnormal_peptide_metabolism0.83328442
134* MP0003953_abnormal_hormone_level0.83136996
135MP0001905_abnormal_dopamine_level0.83051815
136MP0001986_abnormal_taste_sensitivity0.82852735
137MP0003279_aneurysm0.82834098
138MP0005620_abnormal_muscle_contractility0.81496753
139MP0003011_delayed_dark_adaptation0.80913925
140MP0000534_abnormal_ureter_morphology0.79898753
141MP0005452_abnormal_adipose_tissue0.79534439
142MP0002075_abnormal_coat/hair_pigmentati0.79396602
143MP0006138_congestive_heart_failure0.78224336
144MP0002896_abnormal_bone_mineralization0.78156536
145MP0002734_abnormal_mechanical_nocicepti0.78015068
146MP0002168_other_aberrant_phenotype0.77266313
147MP0000569_abnormal_digit_pigmentation0.74534658
148MP0004947_skin_inflammation0.74529972
149MP0008438_abnormal_cutaneous_collagen0.74068614
150MP0001881_abnormal_mammary_gland0.73914668
151MP0002089_abnormal_postnatal_growth/wei0.73090873
152MP0000598_abnormal_liver_morphology0.72379178
153MP0009745_abnormal_behavioral_response0.71519025
154MP0008469_abnormal_protein_level0.71437973
155MP0003567_abnormal_fetal_cardiomyocyte0.71241362
156MP0002090_abnormal_vision0.70659454
157MP0005085_abnormal_gallbladder_physiolo0.70153812
158MP0002272_abnormal_nervous_system0.69974591
159MP0004145_abnormal_muscle_electrophysio0.68285327
160MP0003635_abnormal_synaptic_transmissio0.68143689
161MP0003191_abnormal_cellular_cholesterol0.68047722
162MP0002019_abnormal_tumor_incidence0.67644123
163MP0004142_abnormal_muscle_tone0.67364488
164MP0002108_abnormal_muscle_morphology0.66917828
165MP0002064_seizures0.66691639
166MP0005387_immune_system_phenotype0.66483992
167MP0001790_abnormal_immune_system0.66483992
168MP0004484_altered_response_of0.66081906
169MP0002249_abnormal_larynx_morphology0.64988361
170MP0002419_abnormal_innate_immunity0.64791615
171MP0005508_abnormal_skeleton_morphology0.64691596
172MP0002078_abnormal_glucose_homeostasis0.64217167
173MP0005165_increased_susceptibility_to0.64116701
174MP0002269_muscular_atrophy0.60664631
175MP0003121_genomic_imprinting0.60372069
176MP0002069_abnormal_eating/drinking_beha0.60024973
177MP0002972_abnormal_cardiac_muscle0.59720478
178MP0000230_abnormal_systemic_arterial0.58721686
179MP0005253_abnormal_eye_physiology0.58610568
180MP0000778_abnormal_nervous_system0.57256032

Predicted human phenotypes

RankGene SetZ-score
1Sex reversal (HP:0012245)6.92317551
2Abnormal sex determination (HP:0012244)6.92317551
3Thrombocytosis (HP:0001894)5.40178579
4* Hyperpituitarism (HP:0010514)5.15726146
5Hyperventilation (HP:0002883)5.05058191
6Menstrual irregularities (HP:0000858)4.89462225
7Renal salt wasting (HP:0000127)4.54962089
8Abnormality of cells of the erythroid lineage (HP:0012130)4.43504485
9Hypothermia (HP:0002045)4.39594171
10Absent frontal sinuses (HP:0002688)4.25797748
11Prolonged bleeding time (HP:0003010)4.25538067
12Gonadal dysgenesis (HP:0000133)4.23239154
13Protruding tongue (HP:0010808)4.20084396
14Insidious onset (HP:0003587)4.18264720
15Termporal pattern (HP:0011008)4.18264720
16Asymmetric septal hypertrophy (HP:0001670)4.15647423
17Neonatal hypoglycemia (HP:0001998)3.96044750
18Abnormal number of erythroid precursors (HP:0012131)3.92497554
19Abnormality of dentin (HP:0010299)3.83124207
20Premature ovarian failure (HP:0008209)3.81137639
21Atrioventricular block (HP:0001678)3.61044660
22Generalized aminoaciduria (HP:0002909)3.50010327
23Bilateral sensorineural hearing impairment (HP:0008619)3.46164717
24Impaired platelet aggregation (HP:0003540)3.45529946
25Abnormal platelet function (HP:0011869)3.45529946
26Clumsiness (HP:0002312)3.37923528
27Hyperaldosteronism (HP:0000859)3.30964870
28Chronic hepatic failure (HP:0100626)3.18298885
29Bundle branch block (HP:0011710)3.15030737
30Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.12495333
31Decreased activity of mitochondrial respiratory chain (HP:0008972)3.12495333
32Nonprogressive disorder (HP:0003680)3.12291084
33Epistaxis (HP:0000421)3.11644730
34Absent speech (HP:0001344)3.11137233
35Abnormality of the heme biosynthetic pathway (HP:0010472)3.08349539
36Reticulocytopenia (HP:0001896)3.06811921
37Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)3.05332369
38Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.02702995
39Menorrhagia (HP:0000132)3.01764996
40Drooling (HP:0002307)2.99954473
41Depressed nasal tip (HP:0000437)2.97985251
42Chronic otitis media (HP:0000389)2.97339003
43Degeneration of the lateral corticospinal tracts (HP:0002314)2.95816792
44Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.95816792
45Colon cancer (HP:0003003)2.92219674
46Elevated erythrocyte sedimentation rate (HP:0003565)2.88802091
47Type 2 muscle fiber atrophy (HP:0003554)2.84551636
48Abnormality of the phalanges of the 2nd finger (HP:0009541)2.83462624
49Myositis (HP:0100614)2.80306243
50Portal hypertension (HP:0001409)2.77328459
51Excessive salivation (HP:0003781)2.76991940
52Aplastic anemia (HP:0001915)2.75919412
53Exotropia (HP:0000577)2.74775237
54Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.73825282
55Infertility (HP:0000789)2.73267060
56Petechiae (HP:0000967)2.73058772
57Purpura (HP:0000979)2.71392783
58Male pseudohermaphroditism (HP:0000037)2.71040547
59Persistence of primary teeth (HP:0006335)2.69004347
60Muscle fiber atrophy (HP:0100295)2.66853374
61Congenital sensorineural hearing impairment (HP:0008527)2.66272618
62Asplenia (HP:0001746)2.64737517
63Large earlobe (HP:0009748)2.61723538
64Hydroxyprolinuria (HP:0003080)2.59917667
65Abnormality of proline metabolism (HP:0010907)2.59917667
66Protrusio acetabuli (HP:0003179)2.57008411
67Gingival bleeding (HP:0000225)2.56242650
68Broad-based gait (HP:0002136)2.54689982
69Anomalous pulmonary venous return (HP:0010772)2.50994063
70Abnormality of the axillary hair (HP:0100134)2.50505717
71Abnormality of secondary sexual hair (HP:0009888)2.50505717
72Abnormality of the hepatic vasculature (HP:0006707)2.48521165
73Abnormality of the nasal mucosa (HP:0000433)2.48373615
74Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.43537540
75IgM deficiency (HP:0002850)2.43385015
76Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.43141246
77Pallor (HP:0000980)2.42921011
78Osteomalacia (HP:0002749)2.42519586
79Aplasia/Hypoplasia of the spleen (HP:0010451)2.39729091
80Amaurosis fugax (HP:0100576)2.29312526
81Abnormality of the frontal sinuses (HP:0002687)2.28440220
82Acute myeloid leukemia (HP:0004808)2.28262497
83Relative macrocephaly (HP:0004482)2.27731913
84Azoospermia (HP:0000027)2.27324113
85Heart block (HP:0012722)2.25808612
86Broad palm (HP:0001169)2.25487389
87Bradycardia (HP:0001662)2.25014932
88Infantile muscular hypotonia (HP:0008947)2.24862691
89Abnormality of the corticospinal tract (HP:0002492)2.24497274
90Pulmonic stenosis (HP:0001642)2.24464036
91Spontaneous abortion (HP:0005268)2.24007751
92Frequent falls (HP:0002359)2.21349743
93Abnormality of the phalanges of the 5th finger (HP:0004213)2.20945382
94Macrocytic anemia (HP:0001972)2.20873105
95Abnormality of the dental pulp (HP:0006479)2.20437905
96Pulmonary fibrosis (HP:0002206)2.19139267
97Inappropriate behavior (HP:0000719)2.18367224
98Annular pancreas (HP:0001734)2.18016289
99Broad alveolar ridges (HP:0000187)2.17327550
100Hepatocellular necrosis (HP:0001404)2.16241137
101Gaze-evoked nystagmus (HP:0000640)2.16098166
1023-Methylglutaconic aciduria (HP:0003535)2.15197134
103Microvesicular hepatic steatosis (HP:0001414)2.14766323
104Chronic sinusitis (HP:0011109)2.14004395
105Acanthosis nigricans (HP:0000956)2.12961354
106Abnormality of the pulmonary veins (HP:0011718)2.12906779
107Abnormal atrioventricular conduction (HP:0005150)2.12689649
108True hermaphroditism (HP:0010459)2.11002044
109Aplasia/Hypoplasia of the tibia (HP:0005772)2.09475802
110Nausea (HP:0002018)2.09157606
111Abnormal pancreas size (HP:0012094)2.09052098
112Reduced antithrombin III activity (HP:0001976)2.08950720
113Focal seizures (HP:0007359)2.08825948
114Oligomenorrhea (HP:0000876)2.08410189
115Abnormality of the columella (HP:0009929)2.08062172
116Partial agenesis of the corpus callosum (HP:0001338)2.06643220
117Focal motor seizures (HP:0011153)2.05676641
118Prolonged QT interval (HP:0001657)2.03204422
119Spondylolisthesis (HP:0003302)2.03001050
120Ulnar bowing (HP:0003031)2.02827548
121Progressive inability to walk (HP:0002505)2.02350782
122* Gonadotropin excess (HP:0000837)10.1128396
123Fair hair (HP:0002286)1.99958420
124Anophthalmia (HP:0000528)1.99234452
125Abnormal spermatogenesis (HP:0008669)1.98609474
126Acanthocytosis (HP:0001927)1.96929479
127Vascular tortuosity (HP:0004948)1.96631523
128Hepatic necrosis (HP:0002605)1.96429489
129Limited hip movement (HP:0008800)1.95655148
130Congenital, generalized hypertrichosis (HP:0004540)1.95299334
131Palpitations (HP:0001962)1.94632627
132Easy fatigability (HP:0003388)1.94576292
133Spinal muscular atrophy (HP:0007269)1.93178067
134Dry hair (HP:0011359)1.92652398
135Oligodactyly (hands) (HP:0001180)1.92636667
136Arterial tortuosity (HP:0005116)1.92040804
137Ventricular fibrillation (HP:0001663)1.92030802
138Abnormal EKG (HP:0003115)1.91835680
139Short middle phalanx of the 5th finger (HP:0004220)1.91644856
140Premature loss of primary teeth (HP:0006323)1.91360714
141Increased neuronal autofluorescent lipopigment (HP:0002074)1.90891395
142Absence seizures (HP:0002121)1.90218345
143Adrenal overactivity (HP:0002717)1.89998710
144Febrile seizures (HP:0002373)1.88020166
145Dialeptic seizures (HP:0011146)1.87526450
146Myelodysplasia (HP:0002863)1.87327313
14711 pairs of ribs (HP:0000878)1.86826080
148Nasal polyposis (HP:0100582)1.86605997
149Abnormal respiratory epithelium morphology (HP:0012253)1.86097105
150Abnormal respiratory motile cilium morphology (HP:0005938)1.86097105
151Atonic seizures (HP:0010819)1.82799301
152Increased mean platelet volume (HP:0011877)1.81443700
153Abnormality of the 2nd finger (HP:0004100)1.81265198
154Tongue fasciculations (HP:0001308)1.81037076
155Pulmonary artery stenosis (HP:0004415)1.80938010
156Weak cry (HP:0001612)1.80681118
157Ulnar deviation of the wrist (HP:0003049)1.80666431
158Decreased skull ossification (HP:0004331)1.79545828
159Preaxial foot polydactyly (HP:0001841)1.79494443
160Vitreoretinal degeneration (HP:0000655)1.79252738
161Testicular neoplasm (HP:0010788)1.78471461
162Abnormal platelet volume (HP:0011876)1.78373118
163Periodontitis (HP:0000704)1.78360068
164Recurrent bronchitis (HP:0002837)1.77632813
165Blue irides (HP:0000635)1.77427800
166Abnormality of the alveolar ridges (HP:0006477)1.76649528
167Osteolytic defects of the hand bones (HP:0009699)1.76180003
168Osteolytic defects of the phalanges of the hand (HP:0009771)1.76180003
169Hypophosphatemic rickets (HP:0004912)1.75767933
170Secondary amenorrhea (HP:0000869)1.74874043
171Micronodular cirrhosis (HP:0001413)1.74393004
172Neonatal onset (HP:0003623)1.73471929
173Cupped ear (HP:0000378)1.72988094
174Atrial fibrillation (HP:0005110)1.71736256
175Abnormal albumin level (HP:0012116)1.71168845
176Hypoalbuminemia (HP:0003073)1.71168845
177Type I transferrin isoform profile (HP:0003642)1.70578463
178Pancreatic fibrosis (HP:0100732)1.70250381
179Radial bowing (HP:0002986)1.69879434
180Widely spaced teeth (HP:0000687)1.69113368
181Episodic fever (HP:0001954)1.68965856
182Nephronophthisis (HP:0000090)1.68445873
183Soft skin (HP:0000977)1.66744994
184Wormian bones (HP:0002645)1.66089606
185Mitral valve prolapse (HP:0001634)1.64394067
186Vaginal atresia (HP:0000148)1.64386332
187Abnormality of the ischium (HP:0003174)1.63668196
188Bicornuate uterus (HP:0000813)1.63250905
189Recurrent sinusitis (HP:0011108)1.63016906
190Hypokalemic alkalosis (HP:0001949)1.62859349
191Genital tract atresia (HP:0001827)1.62801774
192Shawl scrotum (HP:0000049)1.62146546
193Impaired vibration sensation in the lower limbs (HP:0002166)1.61207715
194Delayed puberty (HP:0000823)1.60852354

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK7.60506606
2MUSK4.91970588
3FRK4.14640281
4TGFBR24.11068610
5INSRR3.75871293
6TGFBR13.67529657
7TIE13.50564028
8CDK193.41285983
9NME23.20622228
10EEF2K2.89879725
11PAK22.83595178
12ICK2.09946154
13RPS6KB22.06884184
14MAP3K122.06650349
15EPHB22.01775675
16LATS12.00940194
17TNIK1.98506613
18JAK31.90535558
19TRPM71.89055139
20LATS21.85979015
21NEK91.85622869
22MAP2K31.84132725
23PINK11.82195382
24AKT31.81539950
25MYLK1.80952298
26PRKAA21.74290850
27KIT1.72294521
28PIK3CG1.69543836
29DDR21.68937769
30MATK1.63819702
31GRK71.61298524
32LRRK21.54517739
33MAP2K61.52963601
34MKNK11.52316352
35BTK1.50598530
36MAPKAPK31.48055255
37PLK41.44477205
38MARK11.41312005
39EPHB11.39666159
40ADRBK21.38862942
41NUAK11.38220000
42ABL21.36524486
43MAP4K11.31711506
44IKBKE1.31521042
45MAP3K41.30526375
46STK381.27457652
47TEC1.27196515
48CAMK11.26934865
49MAPKAPK51.26320019
50WNK31.25275760
51CAMKK21.24072021
52CDK71.23060021
53EPHA31.22487151
54FER1.22340231
55PRKCE1.18651148
56BCKDK1.14931594
57GRK51.12778304
58MAP3K61.11891026
59SYK1.10785633
60MAP3K91.10395760
61TESK21.09537280
62HIPK21.08255237
63VRK11.06587921
64PASK1.05965690
65PDGFRA1.05965425
66MOS1.04900804
67ERN11.00939409
68PRKG20.98163316
69STK38L0.96766260
70STK100.94594053
71PIK3CA0.93495782
72TXK0.92792949
73IRAK10.92407509
74CAMK1D0.91120708
75PKN20.89568464
76DAPK10.89159752
77MAP3K130.86890504
78RIPK10.85215581
79FLT30.84094308
80JAK10.83956686
81PAK40.83253533
82JAK20.83046725
83PDK10.81927128
84PLK20.80648016
85CSNK1G10.80154226
86PDGFRB0.80013083
87STK390.79630034
88PNCK0.79525857
89SGK2230.79399831
90SGK4940.79399831
91CAMK1G0.78089394
92ADRBK10.77220990
93RPS6KA20.74770686
94IKBKB0.74565694
95MELK0.74193766
96RET0.74105233
97RPS6KA40.71293991
98BMPR1B0.70025867
99SIK10.69211186
100KDR0.68146168
101MKNK20.66042464
102DYRK1B0.64861093
103CDK80.64823769
104LCK0.64223713
105WEE10.64017036
106PRKG10.63617864
107YES10.63569469
108STK240.62911587
109NTRK30.62831485
110DYRK30.62403316
111LYN0.60670222
112AKT20.60501585
113PIM10.60060749
114CSF1R0.59955461
115SGK30.58812224
116ZAP700.58219109
117EIF2AK20.58174967
118CHUK0.56663680
119CAMK2A0.56363768
120TBK10.53540484
121NLK0.53398525
122NTRK10.53259381
123RPS6KA60.51972055
124MAPK30.51227553
125PRKCG0.51142377
126OBSCN0.50021688
127MAPK120.50005432
128CAMK2B0.48587237
129TSSK60.47946931
130TYK20.47477402
131ILK0.47078368
132MAP3K70.45961480
133OXSR10.45724564
134GRK10.45424040
135MET0.44580967
136PTK60.42916735
137CSNK1G30.42376947
138TNK20.42025546
139CDK60.41996394
140MAPK130.41479004
141MAP2K70.40941607
142SRPK10.40886330
143PAK10.40641323
144SGK20.40467127
145PRKACA0.40059657
146LMTK20.39927956
147RPS6KL10.39814718
148RPS6KC10.39814718
149RIPK40.39607467
150MAP3K50.38622612
151CAMK40.38171835
152CAMK2D0.36490001
153PRKCH0.36442770
154PKN10.35587562
155PRKAA10.35194965
156GSK3A0.32381248
157ERBB30.32271369
158FES0.32199937
159CAMK2G0.32044414
160CAMKK10.31407182
161TLK10.30847167
162GRK60.30836692
163ROCK10.30432659
164RPS6KB10.28454217
165HCK0.27972857
166INSR0.27888498
167PRKCD0.27346242
168IGF1R0.27334335
169MAPK10.27045696
170MAPK40.26971864
171MAPK90.25002038
172AKT10.24407782

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ovarian steroidogenesis_Homo sapiens_hsa049137.14514149
2Ribosome_Homo sapiens_hsa030106.32016757
3Steroid hormone biosynthesis_Homo sapiens_hsa001405.75248758
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005334.57769630
5Aldosterone synthesis and secretion_Homo sapiens_hsa049252.99301487
6Fatty acid elongation_Homo sapiens_hsa000622.32349859
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.28048655
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.27176633
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.00443379
10Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.00325313
11Butanoate metabolism_Homo sapiens_hsa006501.97148171
12Nicotine addiction_Homo sapiens_hsa050331.89312010
13Glycerolipid metabolism_Homo sapiens_hsa005611.83792192
14Platelet activation_Homo sapiens_hsa046111.79740601
15Caffeine metabolism_Homo sapiens_hsa002321.75963984
16Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.71625682
17Transcriptional misregulation in cancer_Homo sapiens_hsa052021.64726279
18Insulin secretion_Homo sapiens_hsa049111.40209493
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.36065416
20Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.33406730
21Fatty acid degradation_Homo sapiens_hsa000711.32747663
22Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.32121178
23Histidine metabolism_Homo sapiens_hsa003401.31331093
24Linoleic acid metabolism_Homo sapiens_hsa005911.31108084
25Fatty acid metabolism_Homo sapiens_hsa012121.28764422
26N-Glycan biosynthesis_Homo sapiens_hsa005101.26632079
27AMPK signaling pathway_Homo sapiens_hsa041521.26416012
28Circadian entrainment_Homo sapiens_hsa047131.25359923
29Jak-STAT signaling pathway_Homo sapiens_hsa046301.25072632
30B cell receptor signaling pathway_Homo sapiens_hsa046621.21934984
31SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21117308
32Dorso-ventral axis formation_Homo sapiens_hsa043201.19599463
33Fat digestion and absorption_Homo sapiens_hsa049751.16954863
34Steroid biosynthesis_Homo sapiens_hsa001001.16485675
35Taste transduction_Homo sapiens_hsa047421.16209101
36Vascular smooth muscle contraction_Homo sapiens_hsa042701.13236952
37Dilated cardiomyopathy_Homo sapiens_hsa054141.10712508
38Morphine addiction_Homo sapiens_hsa050321.09272159
39Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.08238734
40Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.03804455
41Salivary secretion_Homo sapiens_hsa049701.03754576
42Mismatch repair_Homo sapiens_hsa034301.00416921
43Ether lipid metabolism_Homo sapiens_hsa005650.96787214
44Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.96033496
45Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93598722
46GABAergic synapse_Homo sapiens_hsa047270.93217232
47Antigen processing and presentation_Homo sapiens_hsa046120.92217649
48Cholinergic synapse_Homo sapiens_hsa047250.91679955
49Tryptophan metabolism_Homo sapiens_hsa003800.91341068
50Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90969688
51Glutamatergic synapse_Homo sapiens_hsa047240.89600112
52Pyrimidine metabolism_Homo sapiens_hsa002400.88743853
53Arachidonic acid metabolism_Homo sapiens_hsa005900.87637262
54Adherens junction_Homo sapiens_hsa045200.86842192
55Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.85851282
56Sulfur relay system_Homo sapiens_hsa041220.85218657
57Serotonergic synapse_Homo sapiens_hsa047260.85018367
58PPAR signaling pathway_Homo sapiens_hsa033200.84520317
59Peroxisome_Homo sapiens_hsa041460.83853882
60Purine metabolism_Homo sapiens_hsa002300.83581044
61Glycerophospholipid metabolism_Homo sapiens_hsa005640.82778330
62Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.82618408
63Nitrogen metabolism_Homo sapiens_hsa009100.82523205
64Protein export_Homo sapiens_hsa030600.80042275
65Starch and sucrose metabolism_Homo sapiens_hsa005000.79894165
66Oxytocin signaling pathway_Homo sapiens_hsa049210.78901691
67RNA polymerase_Homo sapiens_hsa030200.75839586
68Focal adhesion_Homo sapiens_hsa045100.74340063
69Axon guidance_Homo sapiens_hsa043600.74187321
70beta-Alanine metabolism_Homo sapiens_hsa004100.74057947
71Insulin signaling pathway_Homo sapiens_hsa049100.73356719
72* Prolactin signaling pathway_Homo sapiens_hsa049170.71764294
73Phototransduction_Homo sapiens_hsa047440.70519862
74Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69850440
75Herpes simplex infection_Homo sapiens_hsa051680.69746514
76Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.69740000
77Vitamin digestion and absorption_Homo sapiens_hsa049770.69453533
78Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68940880
79Primary immunodeficiency_Homo sapiens_hsa053400.68256424
80Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.68246504
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.68141386
82Fructose and mannose metabolism_Homo sapiens_hsa000510.68095679
83Insulin resistance_Homo sapiens_hsa049310.67807763
84Phenylalanine metabolism_Homo sapiens_hsa003600.66584136
85Osteoclast differentiation_Homo sapiens_hsa043800.66341349
86Measles_Homo sapiens_hsa051620.66305036
87Leishmaniasis_Homo sapiens_hsa051400.64690933
88Thyroid hormone synthesis_Homo sapiens_hsa049180.64384316
89Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63510042
90Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.63468084
91Chemical carcinogenesis_Homo sapiens_hsa052040.63395955
92Lysosome_Homo sapiens_hsa041420.63328343
93Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63230618
94Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.62422155
95Ras signaling pathway_Homo sapiens_hsa040140.62263870
96Complement and coagulation cascades_Homo sapiens_hsa046100.61799862
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.61236064
98Gastric acid secretion_Homo sapiens_hsa049710.60388863
99PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60192311
100Notch signaling pathway_Homo sapiens_hsa043300.60043723
101Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.59859032
102Folate biosynthesis_Homo sapiens_hsa007900.59454076
103Base excision repair_Homo sapiens_hsa034100.58822349
104NOD-like receptor signaling pathway_Homo sapiens_hsa046210.58058909
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57167154
106Hematopoietic cell lineage_Homo sapiens_hsa046400.56736165
107Cocaine addiction_Homo sapiens_hsa050300.56310415
108Melanoma_Homo sapiens_hsa052180.54448523
109cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53724949
110Fatty acid biosynthesis_Homo sapiens_hsa000610.52541868
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52437311
112Basal cell carcinoma_Homo sapiens_hsa052170.51995451
113Long-term depression_Homo sapiens_hsa047300.51744485
114DNA replication_Homo sapiens_hsa030300.51406857
115Phospholipase D signaling pathway_Homo sapiens_hsa040720.50957895
116Protein digestion and absorption_Homo sapiens_hsa049740.50674677
117* Calcium signaling pathway_Homo sapiens_hsa040200.50619837
118ABC transporters_Homo sapiens_hsa020100.50611885
119Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.49504601
120Malaria_Homo sapiens_hsa051440.49314678
121Choline metabolism in cancer_Homo sapiens_hsa052310.49187778
122RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.45898533
123RNA degradation_Homo sapiens_hsa030180.45786085
124Acute myeloid leukemia_Homo sapiens_hsa052210.44704197
125Type II diabetes mellitus_Homo sapiens_hsa049300.44652482
126Tyrosine metabolism_Homo sapiens_hsa003500.43542601
127FoxO signaling pathway_Homo sapiens_hsa040680.42861411
128ECM-receptor interaction_Homo sapiens_hsa045120.39545534
129Spliceosome_Homo sapiens_hsa030400.38319658
130Nucleotide excision repair_Homo sapiens_hsa034200.38087328
131Pyruvate metabolism_Homo sapiens_hsa006200.38036771
132Metabolic pathways_Homo sapiens_hsa011000.36661711
133Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.36471967
134Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.36383448
135Staphylococcus aureus infection_Homo sapiens_hsa051500.36078360
136Adipocytokine signaling pathway_Homo sapiens_hsa049200.35864505
137Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.35532217
138AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.33311756
139Shigellosis_Homo sapiens_hsa051310.33181072
140Leukocyte transendothelial migration_Homo sapiens_hsa046700.31871600
141Primary bile acid biosynthesis_Homo sapiens_hsa001200.30638455
142Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.30531870
143Galactose metabolism_Homo sapiens_hsa000520.29427532
144Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.27821803
145Propanoate metabolism_Homo sapiens_hsa006400.27354132
146Cysteine and methionine metabolism_Homo sapiens_hsa002700.25957731
147TGF-beta signaling pathway_Homo sapiens_hsa043500.24634896
148Pentose and glucuronate interconversions_Homo sapiens_hsa000400.24564189
149Retinol metabolism_Homo sapiens_hsa008300.23646336
150Glycosaminoglycan degradation_Homo sapiens_hsa005310.23008986
151Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.22832985
152Neurotrophin signaling pathway_Homo sapiens_hsa047220.22377056
153Renin secretion_Homo sapiens_hsa049240.22192430
154Bile secretion_Homo sapiens_hsa049760.20654116
155cAMP signaling pathway_Homo sapiens_hsa040240.20026133
156Proteasome_Homo sapiens_hsa030500.20010992
157Maturity onset diabetes of the young_Homo sapiens_hsa049500.19115357
158Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.18394269
159Drug metabolism - other enzymes_Homo sapiens_hsa009830.16965489
160Hepatitis C_Homo sapiens_hsa051600.16910709
161Circadian rhythm_Homo sapiens_hsa047100.16393313
162* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.15638113
163Influenza A_Homo sapiens_hsa051640.14950549
164Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.14900707
165Glucagon signaling pathway_Homo sapiens_hsa049220.14766875

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