GHRL

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 ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1phagocytosis, engulfment (GO:0006911)7.08650821
2COPI coating of Golgi vesicle (GO:0048205)6.83237389
3Golgi transport vesicle coating (GO:0048200)6.83237389
4endocrine pancreas development (GO:0031018)6.55106656
5maintenance of gastrointestinal epithelium (GO:0030277)6.32565687
6serotonin receptor signaling pathway (GO:0007210)6.24614344
7regulation of respiratory burst (GO:0060263)6.10802793
8regulation of calcium ion-dependent exocytosis (GO:0017158)6.05382841
9regulation of sarcomere organization (GO:0060297)5.79720645
10negative regulation of erythrocyte differentiation (GO:0045647)5.65813805
11regulation of bile acid biosynthetic process (GO:0070857)5.60883096
12chemosensory behavior (GO:0007635)5.57370447
13hepatocyte differentiation (GO:0070365)5.48041494
14digestion (GO:0007586)5.40406872
15maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.38132245
16protein retention in ER lumen (GO:0006621)5.37273895
17regulation of mitochondrial translation (GO:0070129)5.28157862
18glandular epithelial cell differentiation (GO:0002067)5.27208224
19neurotransmitter catabolic process (GO:0042135)5.15381423
20positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003575.15164929
21regulation of phospholipase A2 activity (GO:0032429)5.13888886
22* positive regulation of insulin secretion (GO:0032024)5.05318301
23NAD biosynthetic process (GO:0009435)5.04240552
24epithelial structure maintenance (GO:0010669)4.95034514
25regulation of calcium ion import (GO:0090279)4.90147158
26protein autoprocessing (GO:0016540)4.83973337
27phenol-containing compound catabolic process (GO:0019336)4.83567295
28membrane invagination (GO:0010324)4.67018239
29regulation of Golgi to plasma membrane protein transport (GO:0042996)4.65521930
30viral entry into host cell (GO:0046718)4.58814237
31phenylpropanoid metabolic process (GO:0009698)4.51130668
32regulation of proton transport (GO:0010155)4.48354486
33retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.44704556
34embryonic retina morphogenesis in camera-type eye (GO:0060059)4.42866276
35regulation of apoptotic process involved in morphogenesis (GO:1902337)4.33032254
36phosphatidylserine acyl-chain remodeling (GO:0036150)4.25456678
37L-fucose catabolic process (GO:0042355)4.25424912
38fucose catabolic process (GO:0019317)4.25424912
39L-fucose metabolic process (GO:0042354)4.25424912
40regulation of cellular extravasation (GO:0002691)4.18420404
41dentate gyrus development (GO:0021542)4.15346564
42nicotinamide nucleotide biosynthetic process (GO:0019359)4.12373792
43pyridine nucleotide biosynthetic process (GO:0019363)4.12373792
44* positive regulation of peptide hormone secretion (GO:0090277)4.08853015
45phosphatidylinositol acyl-chain remodeling (GO:0036149)4.07624928
46* positive regulation of peptide secretion (GO:0002793)3.96441180
47primary alcohol catabolic process (GO:0034310)3.94130158
48venous blood vessel morphogenesis (GO:0048845)3.92902855
49signal transduction involved in regulation of gene expression (GO:0023019)3.89474657
50intestinal epithelial cell development (GO:0060576)3.88945839
51regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.87406684
52mitochondrion transport along microtubule (GO:0047497)3.85340639
53establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.85340639
54negative regulation of hormone biosynthetic process (GO:0032353)3.81411381
55angiogenesis involved in wound healing (GO:0060055)3.79919996
56DNA strand renaturation (GO:0000733)3.76784674
57iron ion import (GO:0097286)3.75269782
58lymphangiogenesis (GO:0001946)3.75157169
59* digestive system process (GO:0022600)3.74644873
60regulation of cardioblast proliferation (GO:0003264)3.72247747
61regulation of secondary heart field cardioblast proliferation (GO:0003266)3.72247747
62regulation of sulfur metabolic process (GO:0042762)3.71612138
63segment specification (GO:0007379)3.70666704
64response to cocaine (GO:0042220)3.66856332
65negative regulation of hormone metabolic process (GO:0032351)3.66686452
66purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.64833878
673-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.64833878
68positive regulation of glycolytic process (GO:0045821)3.62377823
69L-alpha-amino acid transmembrane transport (GO:1902475)3.61874628
70pH reduction (GO:0045851)3.59201681
71phosphatidylserine metabolic process (GO:0006658)3.58278872
72negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)3.57222077
73regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.56937104
74pancreas development (GO:0031016)3.55071834
75glucose 6-phosphate metabolic process (GO:0051156)3.54842663
76phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.48230668
77acute-phase response (GO:0006953)3.47621864
78entry into cell of other organism involved in symbiotic interaction (GO:0051806)3.46286367
79entry into host (GO:0044409)3.46286367
80entry into other organism involved in symbiotic interaction (GO:0051828)3.46286367
81movement in host environment (GO:0052126)3.46286367
82entry into host cell (GO:0030260)3.46286367
83movement in environment of other organism involved in symbiotic interaction (GO:0052192)3.46286367
84fucose metabolic process (GO:0006004)3.44364859
85negative regulation of complement activation (GO:0045916)3.42552236
86sphingomyelin metabolic process (GO:0006684)3.41608299
87L-phenylalanine catabolic process (GO:0006559)3.41344905
88erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.41344905
89endocardial cushion morphogenesis (GO:0003203)3.40725781
90epithelial cell fate commitment (GO:0072148)3.38957346
91establishment of mitochondrion localization (GO:0051654)3.37525923
92positive regulation of cellular amide metabolic process (GO:0034250)3.36836610
93energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.35140659
94ATP hydrolysis coupled proton transport (GO:0015991)3.35140659
95cardiac right ventricle morphogenesis (GO:0003215)3.31576130
96pyridine-containing compound biosynthetic process (GO:0072525)3.30826416
97erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.30412381
98L-phenylalanine metabolic process (GO:0006558)3.30412381
99positive regulation of protein homooligomerization (GO:0032464)3.30078221
100bundle of His cell to Purkinje myocyte communication (GO:0086069)3.29911069
101embryonic camera-type eye development (GO:0031076)3.29506753
102natural killer cell mediated immunity (GO:0002228)3.28845035
103natural killer cell mediated cytotoxicity (GO:0042267)3.28845035
104sensory perception of smell (GO:0007608)3.27782508
105positive regulation of mitochondrial fission (GO:0090141)3.25783977
106negative regulation of protein kinase B signaling (GO:0051898)3.25756897
107ATP biosynthetic process (GO:0006754)3.23952794
108acute inflammatory response (GO:0002526)3.23811664
109phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.23751448
110epoxygenase P450 pathway (GO:0019373)3.23290628
111regulation of acyl-CoA biosynthetic process (GO:0050812)3.22860724
112amino-acid betaine metabolic process (GO:0006577)3.19308224
113negative regulation of osteoclast differentiation (GO:0045671)3.19167177
114neuronal stem cell maintenance (GO:0097150)3.15705687
115ventricular septum morphogenesis (GO:0060412)3.14297754
116negative regulation of calcium ion transport (GO:0051926)3.11926028
117ectodermal placode formation (GO:0060788)3.11659714
118ethanol metabolic process (GO:0006067)3.09067773
119atrial septum morphogenesis (GO:0060413)3.09042565
120negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.08020027
121positive regulation of peptidyl-threonine phosphorylation (GO:0010800)3.07392880
122* regulation of insulin secretion (GO:0050796)3.07336592
123glutathione derivative biosynthetic process (GO:1901687)3.07035141
124glutathione derivative metabolic process (GO:1901685)3.07035141
125somite development (GO:0061053)3.06855041
126nephron tubule formation (GO:0072079)3.06230337
127anatomical structure regression (GO:0060033)3.06114318
128alditol phosphate metabolic process (GO:0052646)3.05208126
129positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.03879152
130peptide hormone processing (GO:0016486)3.03432991
131membrane budding (GO:0006900)3.03204176
132calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.02835488
133negative regulation of protein activation cascade (GO:2000258)3.02818817
134cardiac myofibril assembly (GO:0055003)3.01713756
135positive regulation of establishment of protein localization to plasma membrane (GO:0090004)3.01049187
136regulation of membrane lipid distribution (GO:0097035)3.00118334
137positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.98188317
138regulation of interleukin-8 secretion (GO:2000482)2.97818896
139regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)2.97792011
140innervation (GO:0060384)2.97450362
141sulfation (GO:0051923)2.96287847
142positive regulation of cell cycle checkpoint (GO:1901978)2.95923222
143response to BMP (GO:0071772)2.95916131
144cellular response to BMP stimulus (GO:0071773)2.95916131
145negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.94588368
146phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.92308572
147toxin metabolic process (GO:0009404)2.91368565
148phosphorylated carbohydrate dephosphorylation (GO:0046838)2.91196001
149inositol phosphate dephosphorylation (GO:0046855)2.91196001
150positive regulation of transcription regulatory region DNA binding (GO:2000679)2.91156327
151cerebellar granule cell differentiation (GO:0021707)2.91101609
152regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.87936653
153positive regulation of glycogen biosynthetic process (GO:0045725)2.87660964
154negative regulation of ion transmembrane transport (GO:0034766)2.87595822
155negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.87391403
156positive regulation of protein localization to plasma membrane (GO:1903078)2.87289942
157energy coupled proton transport, down electrochemical gradient (GO:0015985)2.87138170
158ATP synthesis coupled proton transport (GO:0015986)2.87138170
159import into cell (GO:0098657)2.86102032
160negative regulation of steroid biosynthetic process (GO:0010894)2.85268977
161O-glycan processing (GO:0016266)2.85025150
162negative regulation of humoral immune response (GO:0002921)2.84877653
163regulation of amyloid precursor protein catabolic process (GO:1902991)2.84620324
164ER overload response (GO:0006983)2.84422328
165positive regulation of interleukin-8 secretion (GO:2000484)2.83610846
166intestinal absorption (GO:0050892)2.82434352
167antibacterial humoral response (GO:0019731)2.81899446
168* regulation of peptide hormone secretion (GO:0090276)2.81629212
169neutrophil mediated immunity (GO:0002446)2.79913989
170regulation of glucocorticoid metabolic process (GO:0031943)2.78810973
171gamma-aminobutyric acid transport (GO:0015812)2.77380649
172* regulation of peptide secretion (GO:0002791)2.76802621
173T-helper 1 type immune response (GO:0042088)2.73594982
174lipid particle organization (GO:0034389)2.73066604
175positive regulation of gastrulation (GO:2000543)2.72658055
176mucosal immune response (GO:0002385)2.71958000
177response to methylmercury (GO:0051597)2.70362382
178ventricular cardiac muscle cell action potential (GO:0086005)2.69208008
179* positive regulation of hormone secretion (GO:0046887)2.69085699
180antimicrobial humoral response (GO:0019730)2.65602324
181phospholipid scrambling (GO:0017121)2.64561696
182response to gravity (GO:0009629)2.64216210
183regulation of beta-amyloid formation (GO:1902003)2.63138887
184nitric oxide biosynthetic process (GO:0006809)2.63019918
185cellular response to hexose stimulus (GO:0071331)2.62791636
186regulation of cardioblast differentiation (GO:0051890)2.62367780
187hydrogen ion transmembrane transport (GO:1902600)2.61442804
188mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.58386383
189atrioventricular valve morphogenesis (GO:0003181)2.58157045
190pharyngeal system development (GO:0060037)2.57555409
191regulation of heart rate by cardiac conduction (GO:0086091)2.56451706
192regulation of acrosome reaction (GO:0060046)13.8411457

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.92012475
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.13775466
3TRIM28_21343339_ChIP-Seq_HEK293_Human4.05549002
4GATA1_22025678_ChIP-Seq_K562_Human4.00977032
5STAT6_21828071_ChIP-Seq_BEAS2B_Human3.72258751
6SOX2_27498859_Chip-Seq_STOMACH_Mouse3.69659962
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.68683230
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.43072478
9BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.40346784
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.30942330
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.23524672
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.73144716
13THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.72534412
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.69244327
15GATA4_25053715_ChIP-Seq_YYC3_Human2.53648169
16FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.46886684
17IGF1R_20145208_ChIP-Seq_DFB_Human2.33200177
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.32466993
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.30465063
20PPARA_22158963_ChIP-Seq_LIVER_Mouse2.28301756
21SOX2_20726797_ChIP-Seq_SW620_Human2.27856166
22RXR_22158963_ChIP-Seq_LIVER_Mouse2.26794205
23CDX2_20551321_ChIP-Seq_CACO-2_Human2.16978276
24ZNF274_21170338_ChIP-Seq_K562_Hela2.13994932
25NR3C1_21868756_ChIP-Seq_MCF10A_Human2.13590520
26CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.07649065
27ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.04458524
28LXR_22158963_ChIP-Seq_LIVER_Mouse2.02475512
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.95564624
30TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.90815669
31LXR_22292898_ChIP-Seq_THP-1_Human1.87241198
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.85808463
33GBX2_23144817_ChIP-Seq_PC3_Human1.85253342
34FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.79728932
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.75377995
36EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.74320724
37ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.71828736
38CLOCK_20551151_ChIP-Seq_293T_Human1.71160392
39RARG_19884340_ChIP-ChIP_MEFs_Mouse1.69740332
40PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.69041600
41ESR1_15608294_ChIP-ChIP_MCF-7_Human1.66988917
42GATA6_25053715_ChIP-Seq_YYC3_Human1.65289479
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.63774149
44ZFP281_18757296_ChIP-ChIP_E14_Mouse1.59652058
45HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.55467707
46TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52958990
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.52958990
48MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.52553747
49* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.50158798
50DROSHA_22980978_ChIP-Seq_HELA_Human1.50027551
51FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.48652120
52SRY_22984422_ChIP-ChIP_TESTIS_Rat1.47530069
53OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.47414951
54ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.46905973
55CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46873903
56NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.45059176
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.42471754
58FOXA1_25552417_ChIP-Seq_VCAP_Human1.41819781
59DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.38634909
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38244508
61RUNX1_27514584_Chip-Seq_MCF-7_Human1.37920406
62EP300_21415370_ChIP-Seq_HL-1_Mouse1.36321758
63IRF8_22096565_ChIP-ChIP_GC-B_Human1.35824317
64POU3F2_20337985_ChIP-ChIP_501MEL_Human1.35375530
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.35264519
66FOXA2_19822575_ChIP-Seq_HepG2_Human1.34819385
67CTNNB1_20460455_ChIP-Seq_HCT116_Human1.32361877
68ETV2_25802403_ChIP-Seq_MESCs_Mouse1.31069526
69NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.28473402
70FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.28140009
71AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.27144743
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27123214
73ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.26858631
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26050689
75WT1_19549856_ChIP-ChIP_CCG9911_Human1.25947455
76SMAD4_21799915_ChIP-Seq_A2780_Human1.25700827
77PPAR_26484153_Chip-Seq_NCI-H1993_Human1.25048442
78AR_25329375_ChIP-Seq_VCAP_Human1.22934705
79GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.22798961
80NFE2_27457419_Chip-Seq_LIVER_Mouse1.21483500
81BCAT_22108803_ChIP-Seq_LS180_Human1.21452886
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.21162439
83TP63_23658742_ChIP-Seq_EP156T_Human1.20653681
84STAT1_20625510_ChIP-Seq_HELA_Human1.20189410
85ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.16946325
86NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.16786672
87IKZF1_21737484_ChIP-ChIP_HCT116_Human1.16702416
88VDR_22108803_ChIP-Seq_LS180_Human1.15426068
89CJUN_26792858_Chip-Seq_BT549_Human1.15325988
90KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14337324
91OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14284049
92TBL1_22424771_ChIP-Seq_293T_Human1.14077761
93ATF3_27146783_Chip-Seq_COLON_Human1.13953853
94STAT3_23295773_ChIP-Seq_U87_Human1.13810567
95E2F1_18555785_Chip-Seq_ESCs_Mouse1.13676233
96PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.13223760
97GATA3_24758297_ChIP-Seq_MCF-7_Human1.12654957
98TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12380780
99ESR1_20079471_ChIP-ChIP_T-47D_Human1.12090822
100GATA1_19941826_ChIP-Seq_K562_Human1.11236827
101TCF3_18692474_ChIP-Seq_MEFs_Mouse1.10232670
102EGR1_19032775_ChIP-ChIP_M12_Human1.10191907
103EZH2_27294783_Chip-Seq_NPCs_Mouse1.08590043
104RACK7_27058665_Chip-Seq_MCF-7_Human1.08310760
105TCF4_22108803_ChIP-Seq_LS180_Human1.07710705
106FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.07656213
107CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.07328700
108IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.06678205
109ARNT_22903824_ChIP-Seq_MCF-7_Human1.06457624
110HNFA_21074721_ChIP-Seq_CACO-2_Human1.05588524
111NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.05332127
112OCT1_27270436_Chip-Seq_PROSTATE_Human1.04608005
113TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.03450706
114PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.03301809
115PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02848254
116BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01497969
117CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.01110419
118KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00196916
119SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.00056050
120TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.00038556
121EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.99902008
122SMAD3_21741376_ChIP-Seq_EPCs_Human0.99772423
123FOXM1_26456572_ChIP-Seq_MCF-7_Human0.99333383
124KDM2B_26808549_Chip-Seq_K562_Human0.98914300
125GATA2_21666600_ChIP-Seq_HMVEC_Human0.96886375
126AHR_22903824_ChIP-Seq_MCF-7_Human0.96693860
127NANOG_20526341_ChIP-Seq_ESCs_Human0.96325889
128FOXO3_23340844_ChIP-Seq_DLD1_Human0.95968711
129SALL1_21062744_ChIP-ChIP_HESCs_Human0.95122214
130TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94593543
131FLI1_27457419_Chip-Seq_LIVER_Mouse0.93682882
132GF1_26923725_Chip-Seq_HPCs_Mouse0.93638247
133* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93395320
134STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.93273121
135PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.92111640
136FOXH1_21741376_ChIP-Seq_ESCs_Human0.91907598
137RBPJ_21746931_ChIP-Seq_IB4_Human0.91813039
138SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.91609390
139TBX20_22080862_ChIP-Seq_HEART_Mouse0.90790977
140TBX20_22328084_ChIP-Seq_HEART_Mouse0.90790977
141P300_19829295_ChIP-Seq_ESCs_Human0.90725295
142NANOG_18555785_Chip-Seq_ESCs_Mouse0.90344640
143TP53_16413492_ChIP-PET_HCT116_Human0.89688003
144RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.89571164
145OCT4_18692474_ChIP-Seq_MEFs_Mouse0.89421123
146PHF8_20622853_ChIP-Seq_HELA_Human0.89366361
147GATA6_21074721_ChIP-Seq_CACO-2_Human0.88887394
148PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.88859073
149SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.88745896
150HTT_18923047_ChIP-ChIP_STHdh_Human0.88567044
151AR_20517297_ChIP-Seq_VCAP_Human0.88493617
152SMAD4_21741376_ChIP-Seq_HESCs_Human0.88285561
153HOXB7_26014856_ChIP-Seq_BT474_Human0.88272611
154CTBP2_25329375_ChIP-Seq_LNCAP_Human0.88150951
155CREB1_26743006_Chip-Seq_LNCaP_Human0.87500271
156STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.87239993
157EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87181320
158PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.86668997
159VDR_24787735_ChIP-Seq_THP-1_Human0.86595639
160SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.86286280
161SOX2_18692474_ChIP-Seq_MEFs_Mouse0.83212888
162ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.83048738
163EZH2_27294783_Chip-Seq_ESCs_Mouse0.82018945
164JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80274684
165P63_26484246_Chip-Seq_KERATINOCYTES_Human0.79208514
166STAT3_1855785_ChIP-Seq_MESCs_Mouse0.79180213
167CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.79018264
168KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.77905845
169EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.76787574
170PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.74999383
171SOX17_20123909_ChIP-Seq_XEN_Mouse0.74372851
172WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.72331155
173GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71858949
174* PHF8_20622854_ChIP-Seq_HELA_Human0.71816313
175CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.71345472

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001666_abnormal_nutrient_absorption3.82190371
2MP0001664_abnormal_digestion3.58855500
3MP0002876_abnormal_thyroid_physiology3.55503227
4MP0001984_abnormal_olfaction3.40767302
5MP0004264_abnormal_extraembryonic_tissu3.37247620
6MP0000013_abnormal_adipose_tissue3.22556814
7MP0002735_abnormal_chemical_nociception3.21879689
8MP0010352_gastrointestinal_tract_polyps3.13291388
9MP0001873_stomach_inflammation2.90936065
10MP0000470_abnormal_stomach_morphology2.82701298
11MP0003195_calcinosis2.60180016
12MP0010368_abnormal_lymphatic_system2.59646205
13MP0003868_abnormal_feces_composition2.44634505
14MP0006054_spinal_hemorrhage2.37614014
15MP0003011_delayed_dark_adaptation2.34830659
16MP0003045_fibrosis2.33127618
17MP0005645_abnormal_hypothalamus_physiol2.31927880
18MP0010386_abnormal_urinary_bladder2.28218186
19MP0001944_abnormal_pancreas_morphology2.25983503
20MP0002928_abnormal_bile_duct2.25062441
21MP0005220_abnormal_exocrine_pancreas2.22861257
22MP0003806_abnormal_nucleotide_metabolis2.10273501
23MP0001501_abnormal_sleep_pattern2.09374982
24MP0002138_abnormal_hepatobiliary_system2.03665200
25MP0008004_abnormal_stomach_pH11.6638182
26MP0003123_paternal_imprinting1.93378158
27MP0001756_abnormal_urination1.86850541
28MP0005365_abnormal_bile_salt1.81509870
29MP0003787_abnormal_imprinting1.81347910
30MP0003959_abnormal_lean_body1.81318257
31MP0003183_abnormal_peptide_metabolism1.80700631
32MP0002332_abnormal_exercise_endurance1.77843077
33MP0003943_abnormal_hepatobiliary_system1.75691812
34MP0010234_abnormal_vibrissa_follicle1.72704837
35MP0000003_abnormal_adipose_tissue1.71996906
36MP0001851_eye_inflammation1.68769497
37* MP0002693_abnormal_pancreas_physiology1.68145399
38MP0002139_abnormal_hepatobiliary_system1.67977808
39MP0005083_abnormal_biliary_tract1.67868565
40MP0009780_abnormal_chondrocyte_physiolo1.67147376
41MP0005360_urolithiasis1.57447307
42MP0005257_abnormal_intraocular_pressure1.53011910
43MP0002909_abnormal_adrenal_gland1.50993058
44MP0003950_abnormal_plasma_membrane1.50509852
45MP0000427_abnormal_hair_cycle1.48190905
46MP0005085_abnormal_gallbladder_physiolo1.45849162
47MP0003724_increased_susceptibility_to1.44873714
48* MP0005266_abnormal_metabolism1.44224227
49MP0003329_amyloid_beta_deposits1.43905013
50* MP0002078_abnormal_glucose_homeostasis1.43522657
51MP0001905_abnormal_dopamine_level1.41870779
52MP0008961_abnormal_basal_metabolism1.39748124
53MP0003122_maternal_imprinting1.34876358
54MP0003566_abnormal_cell_adhesion1.34175894
55MP0004270_analgesia1.32088437
56MP0009764_decreased_sensitivity_to1.29430630
57MP0001440_abnormal_grooming_behavior1.27887783
58MP0000462_abnormal_digestive_system1.27412961
59MP0001663_abnormal_digestive_system1.25067346
60MP0006072_abnormal_retinal_apoptosis1.20079523
61MP0000538_abnormal_urinary_bladder1.19955185
62MP0001879_abnormal_lymphatic_vessel1.19849058
63MP0005023_abnormal_wound_healing1.17117867
64MP0010329_abnormal_lipoprotein_level1.16874104
65MP0003866_abnormal_defecation1.15660781
66MP0005187_abnormal_penis_morphology1.15358129
67MP0000534_abnormal_ureter_morphology1.14861526
68MP0004019_abnormal_vitamin_homeostasis1.14846888
69MP0000613_abnormal_salivary_gland1.12705123
70MP0005381_digestive/alimentary_phenotyp1.11899569
71MP0004510_myositis1.11374203
72MP0002168_other_aberrant_phenotype1.11064497
73MP0003119_abnormal_digestive_system1.10239137
74MP0004233_abnormal_muscle_weight1.09662244
75MP0000767_abnormal_smooth_muscle1.06890107
76MP0001348_abnormal_lacrimal_gland1.06730658
77MP0000477_abnormal_intestine_morphology1.05231020
78MP0002118_abnormal_lipid_homeostasis1.04923754
79MP0003300_gastrointestinal_ulcer1.01547478
80MP0009643_abnormal_urine_homeostasis1.00658922
81MP0002877_abnormal_melanocyte_morpholog0.99298076
82MP0005332_abnormal_amino_acid0.97408430
83* MP0003953_abnormal_hormone_level0.96666237
84MP0008569_lethality_at_weaning0.95703574
85MP0005084_abnormal_gallbladder_morpholo0.95399055
86MP0003385_abnormal_body_wall0.93860408
87MP0005334_abnormal_fat_pad0.91440604
88MP0005166_decreased_susceptibility_to0.88294347
89MP0008875_abnormal_xenobiotic_pharmacok0.83546838
90MP0008872_abnormal_physiological_respon0.80048030
91MP0003252_abnormal_bile_duct0.79993746
92MP0000604_amyloidosis0.79624820
93MP0004883_abnormal_blood_vessel0.79622395
94MP0004885_abnormal_endolymph0.79358661
95MP0002837_dystrophic_cardiac_calcinosis0.78607923
96MP0001881_abnormal_mammary_gland0.77869916
97* MP0005376_homeostasis/metabolism_phenot0.76930244
98MP0003137_abnormal_impulse_conducting0.76393214
99MP0005165_increased_susceptibility_to0.74982810
100MP0002089_abnormal_postnatal_growth/wei0.74859183
101MP0010155_abnormal_intestine_physiology0.74712674
102MP0005448_abnormal_energy_balance0.74389805
103* MP0005452_abnormal_adipose_tissue0.72906545
104MP0001970_abnormal_pain_threshold0.72474032
105MP0000465_gastrointestinal_hemorrhage0.72043316
106MP0005164_abnormal_response_to0.69205942
107MP0005310_abnormal_salivary_gland0.68940972
108MP0009384_cardiac_valve_regurgitation0.68416705
109MP0002751_abnormal_autonomic_nervous0.68364884
110MP0000377_abnormal_hair_follicle0.67690884
111MP0001765_abnormal_ion_homeostasis0.67570470
112MP0003633_abnormal_nervous_system0.67142788
113MP0000343_altered_response_to0.66828766
114MP0001853_heart_inflammation0.66429225
115MP0002148_abnormal_hypersensitivity_rea0.64754169
116MP0002896_abnormal_bone_mineralization0.64527840
117MP0001845_abnormal_inflammatory_respons0.64511447
118MP0003121_genomic_imprinting0.62133098
119MP0005408_hypopigmentation0.61114754
120MP0005319_abnormal_enzyme/_coenzyme0.60785641
121MP0003186_abnormal_redox_activity0.59944505
122MP0005058_abnormal_lysosome_morphology0.58612050
123MP0002970_abnormal_white_adipose0.58257578
124MP0005501_abnormal_skin_physiology0.57359574
125MP0009785_altered_susceptibility_to0.56271342
126MP0000537_abnormal_urethra_morphology0.55543019
127MP0005375_adipose_tissue_phenotype0.55064521
128MP0000639_abnormal_adrenal_gland0.53385488
129MP0004742_abnormal_vestibular_system0.52960849
130MP0002136_abnormal_kidney_physiology0.52570507
131* MP0009642_abnormal_blood_homeostasis0.52050754
132MP0003283_abnormal_digestive_organ0.51318401
133MP0004043_abnormal_pH_regulation0.50616768
134MP0000609_abnormal_liver_physiology0.50335185
135MP0003936_abnormal_reproductive_system0.50275523
136MP0002166_altered_tumor_susceptibility0.50249793
137MP0000490_abnormal_crypts_of0.50024001
138MP0005636_abnormal_mineral_homeostasis0.48809289
139MP0001485_abnormal_pinna_reflex0.48501166
140MP0004947_skin_inflammation0.48448646
141* MP0002069_abnormal_eating/drinking_beha0.48142595
142MP0005395_other_phenotype0.47753511
143MP0009703_decreased_birth_body0.45526295
144MP0002796_impaired_skin_barrier0.45291281
145MP0002419_abnormal_innate_immunity0.43982361
146MP0001216_abnormal_epidermal_layer0.43206392
147MP0009765_abnormal_xenobiotic_induced0.43156763
148MP0001915_intracranial_hemorrhage0.43113389
149MP0001784_abnormal_fluid_regulation0.42721867
150MP0000467_abnormal_esophagus_morphology0.42315567
151MP0005410_abnormal_fertilization0.40642549
152MP0009840_abnormal_foam_cell0.40477650
153MP0009115_abnormal_fat_cell0.39962615
154MP0001145_abnormal_male_reproductive0.39921169
155MP0003638_abnormal_response/metabolism_0.37981952
156MP0000653_abnormal_sex_gland0.37448783
157MP0000955_abnormal_spinal_cord0.37417419
158MP0000598_abnormal_liver_morphology0.36497429
159MP0003631_nervous_system_phenotype0.35435104
160MP0002938_white_spotting0.34466455
161MP0009672_abnormal_birth_weight0.33675329

Predicted human phenotypes

RankGene SetZ-score
1Steatorrhea (HP:0002570)9.28304348
2Exocrine pancreatic insufficiency (HP:0001738)9.27711794
3Hypoglycemic coma (HP:0001325)8.64286100
4Hypoglycemic seizures (HP:0002173)8.51269177
5Hyperinsulinemic hypoglycemia (HP:0000825)7.97508702
6Hyperglycemia (HP:0003074)7.34620877
7Ketoacidosis (HP:0001993)7.15446743
8Fat malabsorption (HP:0002630)7.14785991
9Abnormality of endocrine pancreas physiology (HP:0012093)6.74312582
10Abnormality of the pancreatic islet cells (HP:0006476)6.74312582
11Symptomatic seizures (HP:0011145)6.62729247
12Late onset (HP:0003584)6.22370286
13Tubulointerstitial nephritis (HP:0001970)5.89174322
14Abnormal number of erythroid precursors (HP:0012131)5.73831014
15Pancreatic islet-cell hyperplasia (HP:0004510)5.58224385
16Abnormality of cells of the erythroid lineage (HP:0012130)5.03052492
17Broad distal phalanx of finger (HP:0009836)4.79559633
18Ketosis (HP:0001946)4.56958557
19Tubulointerstitial abnormality (HP:0001969)4.50172849
20Unilateral renal agenesis (HP:0000122)4.32755617
21Hepatocellular carcinoma (HP:0001402)4.25281537
22Epidermoid cyst (HP:0200040)4.20714041
23Bilateral sensorineural hearing impairment (HP:0008619)4.16615683
24Abnormality of vitamin B metabolism (HP:0004340)4.12768669
25Enlarged kidneys (HP:0000105)4.06722166
263-Methylglutaconic aciduria (HP:0003535)4.03125909
27Obstructive lung disease (HP:0006536)4.02518329
28Chronic obstructive pulmonary disease (HP:0006510)4.02518329
29Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.95973943
30Toxemia of pregnancy (HP:0100603)3.92445339
31Hypoproteinemia (HP:0003075)3.87660743
32Febrile seizures (HP:0002373)3.81431515
33Abnormality of vitamin metabolism (HP:0100508)3.77952733
34Hypercortisolism (HP:0001578)3.74262642
35Pancreatitis (HP:0001733)3.61755220
36Megaloblastic anemia (HP:0001889)3.61617805
37Abnormality of the renal cortex (HP:0011035)3.59499120
38Facial shape deformation (HP:0011334)3.52563731
39Potter facies (HP:0002009)3.52563731
40Microvesicular hepatic steatosis (HP:0001414)3.46573895
41Fatigue (HP:0012378)3.45238856
42Xanthomatosis (HP:0000991)3.43475145
43Severe muscular hypotonia (HP:0006829)3.40402927
44Lipid accumulation in hepatocytes (HP:0006561)3.37284993
45Hemiparesis (HP:0001269)3.33786810
46Insulin-resistant diabetes mellitus (HP:0000831)3.33599356
47Abnormality of the pleura (HP:0002103)3.32767340
48Abnormality of aromatic amino acid family metabolism (HP:0004338)3.29049391
49Tubulointerstitial fibrosis (HP:0005576)3.27959735
50Insulin resistance (HP:0000855)3.22954604
51Abnormality of small intestinal villus morphology (HP:0011472)3.22755750
52Villous atrophy (HP:0011473)3.22755750
53Increased hepatocellular lipid droplets (HP:0006565)3.22722481
54Neonatal death (HP:0003811)3.19897682
55Pheochromocytoma (HP:0002666)3.19611672
56Pancreatic cysts (HP:0001737)3.13873167
57Right ventricular cardiomyopathy (HP:0011663)3.10532672
58Abnormal pancreas size (HP:0012094)3.10131300
59Sensory axonal neuropathy (HP:0003390)3.06457561
60Erythema (HP:0010783)3.05196859
61Growth hormone excess (HP:0000845)3.00895681
62Abnormality of the vitamin B12 metabolism (HP:0004341)2.98898698
63Emphysema (HP:0002097)2.95441077
64Aplasia/hypoplasia of the uterus (HP:0008684)2.89596753
65Hip dysplasia (HP:0001385)2.89434635
66Gout (HP:0001997)2.87389662
67Large for gestational age (HP:0001520)2.87227210
68Abnormality of dentin (HP:0010299)2.86933649
69Prominent metopic ridge (HP:0005487)2.79244360
70Macroorchidism (HP:0000053)2.77563089
71Agitation (HP:0000713)2.75783506
72Abdominal distention (HP:0003270)2.75316208
73Generalized myoclonic seizures (HP:0002123)2.71048351
74Neurofibrillary tangles (HP:0002185)2.69002618
75Congenital sensorineural hearing impairment (HP:0008527)2.67525486
76Tapered finger (HP:0001182)2.66185160
77Ventricular fibrillation (HP:0001663)2.62568274
78Hyperparathyroidism (HP:0000843)2.61699926
79Neuroendocrine neoplasm (HP:0100634)2.56252915
80Vacuolated lymphocytes (HP:0001922)2.56153703
81Abnormality of calcium-phosphate metabolism (HP:0100530)2.55399149
82Hypsarrhythmia (HP:0002521)2.54262061
83Dysostosis multiplex (HP:0000943)2.52674115
84EEG with generalized epileptiform discharges (HP:0011198)2.52221522
85Glucose intolerance (HP:0000833)2.50994920
86Syncope (HP:0001279)2.50695671
87Cystic liver disease (HP:0006706)2.43896442
88Enlarged penis (HP:0000040)2.42761633
89Tachypnea (HP:0002789)2.42247816
90Epileptiform EEG discharges (HP:0011182)2.41933867
91Severe Myopia (HP:0011003)2.41440988
92Esophageal varix (HP:0002040)2.37800730
93Glycosuria (HP:0003076)2.35273057
94Abnormality of urine glucose concentration (HP:0011016)2.35273057
95Portal hypertension (HP:0001409)2.32216804
96Testicular neoplasm (HP:0010788)2.31702116
97Congenital hepatic fibrosis (HP:0002612)2.29953865
98Abnormality of the dental root (HP:0006486)2.28999041
99Taurodontia (HP:0000679)2.28999041
100Abnormality of permanent molar morphology (HP:0011071)2.28999041
101Abnormality of the metopic suture (HP:0005556)2.26540330
102Double outlet right ventricle (HP:0001719)2.23198347
103Congenital malformation of the right heart (HP:0011723)2.23198347
104Posterior subcapsular cataract (HP:0007787)2.22466109
105Cerebral inclusion bodies (HP:0100314)2.22363733
106Epileptic encephalopathy (HP:0200134)2.21047664
107Impulsivity (HP:0100710)2.18815351
108Cerebral aneurysm (HP:0004944)2.17458216
109Abnormality of molar morphology (HP:0011070)2.17115809
110Abnormality of molar (HP:0011077)2.17115809
111Abnormality of the hepatic vasculature (HP:0006707)2.14295681
112Type II diabetes mellitus (HP:0005978)2.12305046
113Sex reversal (HP:0012245)2.10265620
114Abnormal sex determination (HP:0012244)2.10265620
115Palpitations (HP:0001962)2.08110219
116Renal hypoplasia (HP:0000089)2.06938176
117Bulbous nose (HP:0000414)2.05240830
118Abnormality of the dental pulp (HP:0006479)2.04881135
119Abnormality of the renal medulla (HP:0100957)2.04465927
120Dyskinesia (HP:0100660)2.04354617
121Postural tremor (HP:0002174)2.00168320
122Dysmetric saccades (HP:0000641)1.99754333
123Hypoalphalipoproteinemia (HP:0003233)1.96689031
124Hyperlipoproteinemia (HP:0010980)1.96685628
125Hyperphosphatemia (HP:0002905)1.96192571
126Adrenal overactivity (HP:0002717)1.94909056
127Hypoplastic ischia (HP:0003175)1.93641424
128Goiter (HP:0000853)1.93484224
129Hypoplastic ilia (HP:0000946)1.92951786
130Scanning speech (HP:0002168)1.91838463
131Retinal atrophy (HP:0001105)1.90575372
132Hypoplasia of the uterus (HP:0000013)1.86466148
133Easy fatigability (HP:0003388)1.85990809
134Neoplasm of the liver (HP:0002896)1.85750261
135Cerebral hemorrhage (HP:0001342)1.85357855
136Oligodactyly (hands) (HP:0001180)1.83417142
137Focal seizures (HP:0007359)1.81792021
138Pathologic fracture (HP:0002756)1.81460478
139Abnormality of the sella turcica (HP:0002679)1.80916352
140Restlessness (HP:0000711)1.80030840
141Congenital glaucoma (HP:0001087)1.79171097
142Short thorax (HP:0010306)1.78096543
143Abnormality of the fingertips (HP:0001211)1.77753152
144Recurrent gram-negative bacterial infections (HP:0005420)1.77415562
145Skin nodule (HP:0200036)1.76466500
146Tetraplegia (HP:0002445)1.74031485
147Dysautonomia (HP:0002459)1.73129449
148Parakeratosis (HP:0001036)1.73095842
149Microretrognathia (HP:0000308)1.71487713
150Increased IgM level (HP:0003496)1.71364082
151Neoplasm of the adrenal gland (HP:0100631)1.70650898
152Downturned corners of mouth (HP:0002714)1.69207585
153Disproportionate short-trunk short stature (HP:0003521)1.69141401
154Abnormality of the ischium (HP:0003174)1.69043446
155Abnormality of monocarboxylic acid metabolism (HP:0010996)1.68813690
156Stage 5 chronic kidney disease (HP:0003774)1.68761381
157Generalized hyperpigmentation (HP:0007440)1.68503072
158Abnormality of the neuromuscular junction (HP:0003398)1.68210029
159Fatigable weakness (HP:0003473)1.68210029
160Orthostatic hypotension (HP:0001278)1.67849893
161Nephrotic syndrome (HP:0000100)1.67027101
162Status epilepticus (HP:0002133)1.67023252
163Barrel-shaped chest (HP:0001552)1.66563057
164Neoplasm of the pancreas (HP:0002894)1.64907584
165Cheilitis (HP:0100825)1.64105709
166Fragile skin (HP:0001030)1.61640375
167Spondylolisthesis (HP:0003302)1.61342909
168Menstrual irregularities (HP:0000858)1.60060709
169Proximal tubulopathy (HP:0000114)1.58298167
170Ankyloglossia (HP:0010296)1.55325727
171Micronodular cirrhosis (HP:0001413)1.54915973
172Conjunctival hamartoma (HP:0100780)1.54179482
173Broad face (HP:0000283)1.53283169
174Irritability (HP:0000737)1.53233206
175Intrahepatic cholestasis (HP:0001406)1.51329436
176Increased CSF protein (HP:0002922)1.50730693
177Cardiomegaly (HP:0001640)1.50224376
178Abnormality of the gastric mucosa (HP:0004295)1.47360250
179Hoarse voice (HP:0001609)1.47206502
180Mask-like facies (HP:0000298)1.43917432
181Curly hair (HP:0002212)1.43162235
182Prolonged QT interval (HP:0001657)1.42788403
183Striae distensae (HP:0001065)1.42627023
184Thin bony cortex (HP:0002753)1.41214229
185Hand muscle atrophy (HP:0009130)1.40961124
186Peripheral demyelination (HP:0011096)1.40376184
187Progressive sensorineural hearing impairment (HP:0000408)1.39342775
188Abnormality of oral frenula (HP:0000190)1.38798352
189Hypotension (HP:0002615)1.34339669
190Hypoplasia of dental enamel (HP:0006297)1.34220867
191Abnormality of purine metabolism (HP:0004352)1.34155716
192Slender long bone (HP:0003100)1.33437140
193Bone cyst (HP:0012062)1.32991457
194Abnormal biliary tract morphology (HP:0012440)1.32600277

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK247.41333959
2EPHA26.23201448
3PIK3CG5.55034996
4WNK35.28736855
5MAPK154.95612706
6STK38L4.43032740
7CDK193.62251225
8INSRR3.57405530
9MAP3K43.34032981
10NME12.67006483
11BMPR1B2.63484504
12BCKDK2.10154906
13FGR2.05861915
14MST42.00820353
15EPHA31.96273128
16KSR21.89327624
17MAP2K71.88576455
18MAP2K21.80488729
19MST1R1.80340723
20MAP3K21.77921692
21MAP3K121.73666079
22MYLK1.69598454
23TESK11.68418602
24DYRK1B1.67968468
25PTK61.67544477
26SIK31.53634220
27PAK31.52556251
28MET1.47219557
29FER1.46535165
30TGFBR21.46478296
31RIPK11.41726756
32NTRK31.36734693
33WNK41.34860791
34PTK21.34467406
35BRD41.32410482
36CAMK1G1.26239175
37ADRBK21.18627313
38NTRK11.17082103
39FGFR41.17074325
40PKN21.17027245
41CDK81.13517365
42IRAK11.11170053
43ERN11.10440779
44MAP2K41.08262044
45CDC42BPA1.06582757
46GRK11.06535537
47STK31.05840110
48UHMK11.05802357
49HIPK21.05391859
50PRKG21.02237282
51TGFBR11.01625037
52OXSR10.99439678
53ILK0.99096478
54TAOK30.98774569
55PIM20.98436519
56PRKCI0.97441108
57LRRK20.97333588
58RIPK40.96326751
59DAPK10.92614440
60MAP2K10.92295490
61CAMK1D0.89948381
62PAK40.86919137
63TYK20.85754931
64TRIB30.81876317
65SMG10.80525773
66SIK20.80492682
67CSNK1A1L0.79509593
68STK380.79031079
69CSNK1G20.77235723
70MAP3K90.76541796
71CSNK1G30.76152151
72MAP2K60.72158883
73FRK0.71917173
74DAPK30.71202823
75SIK10.70845813
76ARAF0.69294859
77LMTK20.68488273
78ERBB30.67124809
79CLK10.66526447
80RAF10.65992799
81ERBB40.65438194
82BMPR20.63334830
83LIMK10.62726813
84NUAK10.62550110
85TBK10.62043915
86CAMK2D0.60394759
87NLK0.60245480
88MARK30.59943303
89STK390.59742686
90CSNK1G10.59370065
91DAPK20.57341229
92WNK10.55013710
93CHUK0.54085349
94RPS6KA20.51577868
95KSR10.50861855
96FGFR10.49564805
97CASK0.48033195
98MAP3K80.47598122
99EPHB20.46807794
100EPHB10.46537912
101MARK20.45550935
102DYRK1A0.44539697
103DYRK20.44249957
104FLT30.44037031
105MKNK20.42105696
106PDGFRB0.42011623
107MAPK110.40061997
108TNK20.39427360
109ROCK20.38864032
110DMPK0.37608735
111FGFR30.37069743
112JAK10.36650919
113CDK90.36431550
114RET0.36143827
115CSK0.35172258
116MTOR0.33923929
117GRK70.32974721
118CAMK2B0.32716934
119PNCK0.32447230
120SRC0.32104605
121TTN0.31374857
122CDK60.31034437
123CDK50.30600832
124EPHA40.29848107
125MELK0.29696759
126ERBB20.27434536
127PTK2B0.26921914
128NEK60.26043703
129FYN0.25476696
130CAMK2G0.25453537
131JAK20.25163284
132STK40.24167938
133PIK3CA0.23339001
134CDK11A0.22961160
135PAK20.22682994
136CDK140.22274060
137ROCK10.22249977
138CAMK10.21854770
139GRK60.21656868
140PDPK10.21316980
141ZAP700.20722383
142RPS6KA60.20627341
143MAP3K110.20492251
144STK100.18942472
145RPS6KA10.18840691
146PRKCQ0.18828152
147RPS6KC10.18784427
148RPS6KL10.18784427
149EIF2AK10.18156385
150CAMK2A0.16830280
151MAPK70.14812082
152RPS6KA50.13047851
153CSNK1D0.12471695
154ACVR1B0.11784109
155CSNK1A10.11068153
156PRKCE0.07189828
157PRKAA20.05596661
158PHKG10.05067898
159PHKG20.05067898
160GRK50.04964020
161MAP3K10.04170173
162ALK0.04000703

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.99459153
2Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007605.04109899
3Collecting duct acid secretion_Homo sapiens_hsa049664.33474160
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.91408123
5Mismatch repair_Homo sapiens_hsa034303.46240419
6Fat digestion and absorption_Homo sapiens_hsa049753.38578666
7Phenylalanine metabolism_Homo sapiens_hsa003603.34106665
8Nitrogen metabolism_Homo sapiens_hsa009103.17953079
9Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.09476795
10Other types of O-glycan biosynthesis_Homo sapiens_hsa005143.01434851
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.83009105
12Linoleic acid metabolism_Homo sapiens_hsa005912.70372484
13Gastric acid secretion_Homo sapiens_hsa049712.68256460
14Complement and coagulation cascades_Homo sapiens_hsa046102.42311994
15Taste transduction_Homo sapiens_hsa047422.29621170
16Sulfur metabolism_Homo sapiens_hsa009202.23876872
17Insulin secretion_Homo sapiens_hsa049112.02497473
18Oxidative phosphorylation_Homo sapiens_hsa001901.99921695
19Sphingolipid metabolism_Homo sapiens_hsa006001.93957660
20Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.90325238
21Homologous recombination_Homo sapiens_hsa034401.81140362
22Salmonella infection_Homo sapiens_hsa051321.79251554
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.76397054
24Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.73677647
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.73568254
26Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.68475458
27Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.67336512
28Pancreatic secretion_Homo sapiens_hsa049721.65148876
29Serotonergic synapse_Homo sapiens_hsa047261.57763514
30Ether lipid metabolism_Homo sapiens_hsa005651.56804045
31Vitamin digestion and absorption_Homo sapiens_hsa049771.53033296
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.47314699
33Fatty acid degradation_Homo sapiens_hsa000711.43029514
34Type II diabetes mellitus_Homo sapiens_hsa049301.42664675
35Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.37708063
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.35472732
37Vibrio cholerae infection_Homo sapiens_hsa051101.29846073
38Adherens junction_Homo sapiens_hsa045201.29469850
39Glutathione metabolism_Homo sapiens_hsa004801.14952158
40Arachidonic acid metabolism_Homo sapiens_hsa005901.14480646
41Chemical carcinogenesis_Homo sapiens_hsa052041.13895081
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.13492657
43SNARE interactions in vesicular transport_Homo sapiens_hsa041301.11923412
44Tyrosine metabolism_Homo sapiens_hsa003501.11301932
45Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.10568263
46Vitamin B6 metabolism_Homo sapiens_hsa007501.07481591
47Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.00756562
48NOD-like receptor signaling pathway_Homo sapiens_hsa046211.00316343
49Parkinsons disease_Homo sapiens_hsa050120.99058585
50Thyroid hormone synthesis_Homo sapiens_hsa049180.98205883
51Protein export_Homo sapiens_hsa030600.95645887
52Pyruvate metabolism_Homo sapiens_hsa006200.94930352
53Type I diabetes mellitus_Homo sapiens_hsa049400.93661699
54Starch and sucrose metabolism_Homo sapiens_hsa005000.89938964
55Tryptophan metabolism_Homo sapiens_hsa003800.89402836
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.89332053
57Histidine metabolism_Homo sapiens_hsa003400.87466592
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87219558
59N-Glycan biosynthesis_Homo sapiens_hsa005100.85515782
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85424063
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.83813418
62TGF-beta signaling pathway_Homo sapiens_hsa043500.82882008
63Alzheimers disease_Homo sapiens_hsa050100.82611475
64Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.81516097
65Glycerolipid metabolism_Homo sapiens_hsa005610.78531725
66Vascular smooth muscle contraction_Homo sapiens_hsa042700.77540614
67Wnt signaling pathway_Homo sapiens_hsa043100.74988282
68ABC transporters_Homo sapiens_hsa020100.73858977
69Other glycan degradation_Homo sapiens_hsa005110.73774148
70Arginine biosynthesis_Homo sapiens_hsa002200.73527702
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.73458402
72Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.71218647
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.70195656
74Glucagon signaling pathway_Homo sapiens_hsa049220.69004365
75Propanoate metabolism_Homo sapiens_hsa006400.68151950
76Tight junction_Homo sapiens_hsa045300.65885825
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.65828548
78Galactose metabolism_Homo sapiens_hsa000520.65579108
79Drug metabolism - other enzymes_Homo sapiens_hsa009830.65537824
80beta-Alanine metabolism_Homo sapiens_hsa004100.65487960
81Carbon metabolism_Homo sapiens_hsa012000.64350214
82Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63115801
83Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.60604035
84Cocaine addiction_Homo sapiens_hsa050300.59947483
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59402754
86Fanconi anemia pathway_Homo sapiens_hsa034600.59231922
87Butanoate metabolism_Homo sapiens_hsa006500.58323071
88Peroxisome_Homo sapiens_hsa041460.57749598
89Folate biosynthesis_Homo sapiens_hsa007900.57315179
90Cardiac muscle contraction_Homo sapiens_hsa042600.56226098
91Regulation of autophagy_Homo sapiens_hsa041400.56084649
92Bladder cancer_Homo sapiens_hsa052190.53514181
93Amphetamine addiction_Homo sapiens_hsa050310.52581586
94Fatty acid biosynthesis_Homo sapiens_hsa000610.50516706
95Jak-STAT signaling pathway_Homo sapiens_hsa046300.49841928
96Regulation of actin cytoskeleton_Homo sapiens_hsa048100.49627704
97Bile secretion_Homo sapiens_hsa049760.47763261
98Rheumatoid arthritis_Homo sapiens_hsa053230.46966918
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.46849768
100Huntingtons disease_Homo sapiens_hsa050160.46849413
101GABAergic synapse_Homo sapiens_hsa047270.46787217
102Estrogen signaling pathway_Homo sapiens_hsa049150.46562937
103Non-homologous end-joining_Homo sapiens_hsa034500.46117137
104Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.45648680
105Endocytosis_Homo sapiens_hsa041440.42086865
106Melanoma_Homo sapiens_hsa052180.41898240
107Long-term potentiation_Homo sapiens_hsa047200.39814349
108Renin secretion_Homo sapiens_hsa049240.39083786
109Cysteine and methionine metabolism_Homo sapiens_hsa002700.39015530
110Osteoclast differentiation_Homo sapiens_hsa043800.37216591
111Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.34255071
112Lysosome_Homo sapiens_hsa041420.33832170
113AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.33814625
114Insulin resistance_Homo sapiens_hsa049310.33611208
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.33131327
116Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32303271
117Measles_Homo sapiens_hsa051620.32239197
118Pertussis_Homo sapiens_hsa051330.32224604
119Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.31854254
120Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.31807442
121Inositol phosphate metabolism_Homo sapiens_hsa005620.31708613
122Synaptic vesicle cycle_Homo sapiens_hsa047210.30255702
123Nucleotide excision repair_Homo sapiens_hsa034200.29592511
124Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.29527418
125Caffeine metabolism_Homo sapiens_hsa002320.28569118
126Circadian entrainment_Homo sapiens_hsa047130.28420193
127Prion diseases_Homo sapiens_hsa050200.28388990
128Mineral absorption_Homo sapiens_hsa049780.27619828
129Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27208141
130Retinol metabolism_Homo sapiens_hsa008300.26676616
131Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.26486332
132Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.25775440
133PPAR signaling pathway_Homo sapiens_hsa033200.25006634
134Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.24946638
135Fatty acid metabolism_Homo sapiens_hsa012120.24780561
136Dopaminergic synapse_Homo sapiens_hsa047280.24684616
137Shigellosis_Homo sapiens_hsa051310.24263167
138ECM-receptor interaction_Homo sapiens_hsa045120.24034717
139Fructose and mannose metabolism_Homo sapiens_hsa000510.23860297
140Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.23344624
141Leishmaniasis_Homo sapiens_hsa051400.22923990
142Thyroid cancer_Homo sapiens_hsa052160.22715475
143Pentose phosphate pathway_Homo sapiens_hsa000300.22323092
144MAPK signaling pathway_Homo sapiens_hsa040100.22208270
145Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.21463132
146Hepatitis C_Homo sapiens_hsa051600.21277564
147Insulin signaling pathway_Homo sapiens_hsa049100.20904151
148Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.20473139
149Hippo signaling pathway_Homo sapiens_hsa043900.20293951
150Glutamatergic synapse_Homo sapiens_hsa047240.19588535
151Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.19029554
152* cAMP signaling pathway_Homo sapiens_hsa040240.18421587
153Pathways in cancer_Homo sapiens_hsa052000.17270662
154Arginine and proline metabolism_Homo sapiens_hsa003300.16850543
155Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.16561933
156cGMP-PKG signaling pathway_Homo sapiens_hsa040220.16332890
157Phagosome_Homo sapiens_hsa041450.16009813
158Lysine degradation_Homo sapiens_hsa003100.15409848
159Prolactin signaling pathway_Homo sapiens_hsa049170.14709301
160Protein digestion and absorption_Homo sapiens_hsa049740.13921540

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