ADGRG2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1seminiferous tubule development (GO:0072520)5.55190615
2hemidesmosome assembly (GO:0031581)4.53598694
3desmosome organization (GO:0002934)4.15801347
4behavioral response to nicotine (GO:0035095)4.05468402
5protein heterotrimerization (GO:0070208)4.00240378
6limb bud formation (GO:0060174)3.86862004
7water-soluble vitamin biosynthetic process (GO:0042364)3.82926427
8positive regulation of extracellular matrix organization (GO:1903055)3.79224021
9collagen fibril organization (GO:0030199)3.79053484
10positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.59831095
11chondrocyte proliferation (GO:0035988)3.53122409
12cellular ketone body metabolic process (GO:0046950)3.52912597
13neurofilament cytoskeleton organization (GO:0060052)3.51052515
14adaptation of signaling pathway (GO:0023058)3.40454044
15metanephric mesenchyme development (GO:0072075)3.33347968
16regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.29969007
17adult feeding behavior (GO:0008343)3.29770433
18indolalkylamine metabolic process (GO:0006586)3.24408009
19glycerophospholipid catabolic process (GO:0046475)3.22747141
20adrenergic receptor signaling pathway (GO:0071875)3.22353218
21kidney mesenchyme development (GO:0072074)3.21925960
22detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.21278233
23kidney morphogenesis (GO:0060993)3.21042579
24chondrocyte development (GO:0002063)3.17507637
25regulation of T cell tolerance induction (GO:0002664)3.17433408
26ketone body metabolic process (GO:1902224)3.13615554
27cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.12098945
28protein complex biogenesis (GO:0070271)3.10497635
29respiratory chain complex IV assembly (GO:0008535)3.04799988
30mitochondrial respiratory chain complex assembly (GO:0033108)3.04594340
31plasma membrane repair (GO:0001778)2.99887577
32negative regulation of telomere maintenance (GO:0032205)2.96816955
33preassembly of GPI anchor in ER membrane (GO:0016254)2.95018999
34positive regulation of tolerance induction (GO:0002645)2.94413625
35positive regulation of endothelial cell apoptotic process (GO:2000353)2.93910102
36negative regulation of cytosolic calcium ion concentration (GO:0051481)2.92188109
37tryptophan catabolic process (GO:0006569)2.91586938
38indole-containing compound catabolic process (GO:0042436)2.91586938
39indolalkylamine catabolic process (GO:0046218)2.91586938
40negative regulation of translation, ncRNA-mediated (GO:0040033)2.91316355
41regulation of translation, ncRNA-mediated (GO:0045974)2.91316355
42negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.91316355
43middle ear morphogenesis (GO:0042474)2.90331661
44collagen catabolic process (GO:0030574)2.90255456
45L-fucose catabolic process (GO:0042355)2.84618120
46fucose catabolic process (GO:0019317)2.84618120
47L-fucose metabolic process (GO:0042354)2.84618120
48nodal signaling pathway (GO:0038092)2.83936519
49retina vasculature morphogenesis in camera-type eye (GO:0061299)2.82832023
50cilium morphogenesis (GO:0060271)2.82316869
51regulation of neurotransmitter uptake (GO:0051580)2.82185298
52mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.81505981
53mitochondrial respiratory chain complex I assembly (GO:0032981)2.81505981
54NADH dehydrogenase complex assembly (GO:0010257)2.81505981
55collagen metabolic process (GO:0032963)2.81301116
56nonmotile primary cilium assembly (GO:0035058)2.78964003
57establishment of protein localization to mitochondrial membrane (GO:0090151)2.76579959
58regulation of nuclear cell cycle DNA replication (GO:0033262)2.75750252
59reflex (GO:0060004)2.74958907
60somite rostral/caudal axis specification (GO:0032525)2.74957795
61neuron remodeling (GO:0016322)2.74872832
62signal peptide processing (GO:0006465)2.73431787
63multicellular organismal macromolecule metabolic process (GO:0044259)2.72417651
64DNA deamination (GO:0045006)2.72061471
65negative regulation of protein autophosphorylation (GO:0031953)2.71678163
66dermatan sulfate biosynthetic process (GO:0030208)2.71628641
67detection of light stimulus involved in sensory perception (GO:0050962)2.71314239
68detection of light stimulus involved in visual perception (GO:0050908)2.71314239
69nephron tubule morphogenesis (GO:0072078)2.70708517
70nephron epithelium morphogenesis (GO:0072088)2.70708517
71mesenchymal-epithelial cell signaling (GO:0060638)2.70235105
72multicellular organismal catabolic process (GO:0044243)2.69096010
73epithelial cilium movement (GO:0003351)2.69012328
74regulation of cilium movement (GO:0003352)2.67162126
75photoreceptor cell maintenance (GO:0045494)2.66478025
76tryptophan metabolic process (GO:0006568)2.65907519
77piRNA metabolic process (GO:0034587)2.64544723
78kynurenine metabolic process (GO:0070189)2.63576776
79response to pheromone (GO:0019236)2.63357245
80protein polyglutamylation (GO:0018095)2.63188761
81outer ear morphogenesis (GO:0042473)2.62844967
82response to phenylpropanoid (GO:0080184)2.62790077
83ubiquinone biosynthetic process (GO:0006744)2.62480892
84indole-containing compound metabolic process (GO:0042430)2.62292332
85multicellular organismal metabolic process (GO:0044236)2.61530045
86peristalsis (GO:0030432)2.60602938
87negative regulation of DNA-dependent DNA replication (GO:2000104)2.60230505
88negative regulation of leukocyte chemotaxis (GO:0002689)2.60217072
89regulation of neuron projection regeneration (GO:0070570)2.60045172
90regulation of axon regeneration (GO:0048679)2.60045172
91L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.59293513
92axoneme assembly (GO:0035082)2.58600517
93positive regulation of histone H3-K4 methylation (GO:0051571)2.58112416
94regulation of mesenchymal cell proliferation (GO:0010464)2.58034678
95sperm capacitation (GO:0048240)2.57344777
96epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.56276759
97cytochrome complex assembly (GO:0017004)2.55481821
98mesonephros development (GO:0001823)2.53051957
99ubiquinone metabolic process (GO:0006743)2.52904836
100regulation of hexokinase activity (GO:1903299)2.52875629
101regulation of glucokinase activity (GO:0033131)2.52875629
102embryonic skeletal joint morphogenesis (GO:0060272)2.52638291
103regulation of telomere maintenance (GO:0032204)2.52011031
104retinal cone cell development (GO:0046549)2.51428835
105purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.50335911
1063-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.50335911
107keratan sulfate catabolic process (GO:0042340)2.49424824
108neuronal action potential (GO:0019228)2.48035349
109protein localization to cilium (GO:0061512)2.47889096
110embryonic cranial skeleton morphogenesis (GO:0048701)2.46818125
111regulation of axon extension involved in axon guidance (GO:0048841)2.46744099
112regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.46558368
113dermatan sulfate metabolic process (GO:0030205)2.46488360
114primary amino compound metabolic process (GO:1901160)2.46315409
115regulation of mesoderm development (GO:2000380)2.46042095
116atrial cardiac muscle cell action potential (GO:0086014)2.45448966
117phasic smooth muscle contraction (GO:0014821)2.45275870
118negative regulation of synaptic transmission, GABAergic (GO:0032229)2.44850106
119L-methionine salvage (GO:0071267)2.44381366
120L-methionine biosynthetic process (GO:0071265)2.44381366
121amino acid salvage (GO:0043102)2.44381366
122regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.43862073
123facial nerve structural organization (GO:0021612)2.43589373
124extracellular matrix disassembly (GO:0022617)2.43448974
125aspartate family amino acid catabolic process (GO:0009068)2.43271744
126mesenchymal cell differentiation involved in renal system development (GO:2001012)2.42717127
127mesenchymal cell differentiation involved in kidney development (GO:0072161)2.42717127
128protein localization to cell surface (GO:0034394)2.42005086
129regulation of hippo signaling (GO:0035330)2.41131829
130negative regulation of axon extension involved in axon guidance (GO:0048843)2.40879396
131basic amino acid transport (GO:0015802)2.40802609
132positive regulation of mesenchymal cell proliferation (GO:0002053)2.40513777
133positive regulation of glomerulus development (GO:0090193)2.40506010
134regulation of meiosis I (GO:0060631)2.40457851
135aromatic amino acid family catabolic process (GO:0009074)2.39928384
136bundle of His cell to Purkinje myocyte communication (GO:0086069)2.39217015
137RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.37968890
138neural tube formation (GO:0001841)2.37841737
139atrioventricular valve morphogenesis (GO:0003181)2.35682610
140serotonin metabolic process (GO:0042428)2.35637482
141lysine metabolic process (GO:0006553)2.35072982
142lysine catabolic process (GO:0006554)2.35072982
143spinal cord motor neuron differentiation (GO:0021522)2.33417101
144regulation of tolerance induction (GO:0002643)2.32514289
145embryonic skeletal system morphogenesis (GO:0048704)2.32344308
146regulation of rhodopsin mediated signaling pathway (GO:0022400)2.32094745
147definitive hemopoiesis (GO:0060216)2.31916351
148mitochondrial RNA metabolic process (GO:0000959)2.31690903
149epithelial cell morphogenesis (GO:0003382)2.31666854
150production of molecular mediator involved in inflammatory response (GO:0002532)2.31363527
151cranial nerve structural organization (GO:0021604)2.31296019
152membrane assembly (GO:0071709)2.31085302
153axonal fasciculation (GO:0007413)2.28714676
154wound healing, spreading of epidermal cells (GO:0035313)2.28393115
155regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.28310923
156reciprocal meiotic recombination (GO:0007131)2.28166694
157reciprocal DNA recombination (GO:0035825)2.28166694
158regulation of action potential (GO:0098900)2.27663459
159regulation of gene silencing by miRNA (GO:0060964)2.27528635
160regulation of gene silencing by RNA (GO:0060966)2.27528635
161regulation of posttranscriptional gene silencing (GO:0060147)2.27528635
162S-adenosylmethionine metabolic process (GO:0046500)2.27461649
163negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.26670125
164endodermal cell differentiation (GO:0035987)2.26166670
165positive regulation of synapse assembly (GO:0051965)2.24914453
166wound healing, spreading of cells (GO:0044319)2.23931763
167regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.22619373
168positive regulation of cartilage development (GO:0061036)2.22033204
169activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.21797888
170urogenital system development (GO:0001655)2.21739097
171regulation of axon guidance (GO:1902667)2.21203492
172heart valve morphogenesis (GO:0003179)2.20580892
173positive regulation of gastrulation (GO:2000543)2.18534784
174platelet dense granule organization (GO:0060155)2.16616100
175mesodermal cell differentiation (GO:0048333)2.16501187
176negative regulation of complement activation (GO:0045916)2.15858961
177brown fat cell differentiation (GO:0050873)2.15464298
178extracellular matrix assembly (GO:0085029)2.15355060
179cell differentiation involved in metanephros development (GO:0072202)2.14431562
180bone trabecula formation (GO:0060346)2.14345477
181negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.14209756
182skeletal system morphogenesis (GO:0048705)2.13022116
183cell aggregation (GO:0098743)2.12789486
184cartilage condensation (GO:0001502)2.12789486
185dendritic spine morphogenesis (GO:0060997)2.09771246
186mitotic cell cycle arrest (GO:0071850)2.09066445
187negative regulation of gluconeogenesis (GO:0045721)2.08194894
188smooth muscle tissue development (GO:0048745)2.07979641
189renal filtration (GO:0097205)2.07186161
190cell-substrate junction assembly (GO:0007044)2.06623289
191negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.06392876
192white fat cell differentiation (GO:0050872)2.06207844
193regulation of glomerulus development (GO:0090192)2.06108390
194cartilage morphogenesis (GO:0060536)2.04629291
195lateral sprouting from an epithelium (GO:0060601)2.04618814
196positive regulation of embryonic development (GO:0040019)2.04150850
197negative regulation of stem cell proliferation (GO:2000647)2.03932889
198extracellular matrix organization (GO:0030198)2.03051340
199negative regulation of axon guidance (GO:1902668)2.02473859

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human3.38338959
2VDR_22108803_ChIP-Seq_LS180_Human2.82586183
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.82081809
4GBX2_23144817_ChIP-Seq_PC3_Human2.80538824
5IGF1R_20145208_ChIP-Seq_DFB_Human2.61275375
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.59481844
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.50259561
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.47358769
9TRIM28_21343339_ChIP-Seq_HEK293_Human2.47252839
10EED_16625203_ChIP-ChIP_MESCs_Mouse2.45700457
11SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.44877249
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.42866444
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.42866444
14FUS_26573619_Chip-Seq_HEK293_Human2.40894936
15JARID2_20064375_ChIP-Seq_MESCs_Mouse2.39178683
16AR_21572438_ChIP-Seq_LNCaP_Human2.36364587
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.30680007
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28861777
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.28484724
20JARID2_20075857_ChIP-Seq_MESCs_Mouse2.26881355
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.25911143
22BMI1_23680149_ChIP-Seq_NPCS_Mouse2.09385470
23EWS_26573619_Chip-Seq_HEK293_Human2.01561564
24EZH2_22144423_ChIP-Seq_EOC_Human2.01543620
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.95326587
26MTF2_20144788_ChIP-Seq_MESCs_Mouse1.92828304
27CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90659328
28E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.83652777
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.83325371
30PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.79459007
31SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.79330399
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.76932786
33RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.75564269
34EZH2_27294783_Chip-Seq_ESCs_Mouse1.72893323
35MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.69104476
36SUZ12_27294783_Chip-Seq_ESCs_Mouse1.65831949
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.65203647
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.64998119
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62800614
40ESR1_20079471_ChIP-ChIP_T-47D_Human1.61462293
41CJUN_26792858_Chip-Seq_BT549_Human1.61007860
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.59356321
43TAF15_26573619_Chip-Seq_HEK293_Human1.59296726
44ZNF217_24962896_ChIP-Seq_MCF-7_Human1.57760275
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.57111309
46CBP_20019798_ChIP-Seq_JUKART_Human1.57111309
47ER_23166858_ChIP-Seq_MCF-7_Human1.54979923
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.53591078
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52493377
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.52332052
51STAT3_23295773_ChIP-Seq_U87_Human1.49573600
52SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.49464316
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.46264764
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.45939072
55NFE2_27457419_Chip-Seq_LIVER_Mouse1.45513430
56EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.44881844
57TP53_22573176_ChIP-Seq_HFKS_Human1.44546424
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.44205504
59ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43817861
60WT1_19549856_ChIP-ChIP_CCG9911_Human1.42981462
61EZH2_27294783_Chip-Seq_NPCs_Mouse1.42605367
62KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.40601981
63MYC_18940864_ChIP-ChIP_HL60_Human1.39016486
64NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.38673181
65TP53_20018659_ChIP-ChIP_R1E_Mouse1.38517439
66POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38230033
67TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38230033
68GABP_17652178_ChIP-ChIP_JURKAT_Human1.37915128
69TCF4_22108803_ChIP-Seq_LS180_Human1.35934592
70ESR2_21235772_ChIP-Seq_MCF-7_Human1.35833180
71TCF4_23295773_ChIP-Seq_U87_Human1.34056864
72SMAD_19615063_ChIP-ChIP_OVARY_Human1.33598686
73PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.31954714
74CTBP2_25329375_ChIP-Seq_LNCAP_Human1.31945476
75NANOG_19829295_ChIP-Seq_ESCs_Human1.31673898
76SOX2_19829295_ChIP-Seq_ESCs_Human1.31673898
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.31655934
78CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.31262953
79ELK1_19687146_ChIP-ChIP_HELA_Human1.29466823
80TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27971568
81NOTCH1_21737748_ChIP-Seq_TLL_Human1.27741920
82EP300_21415370_ChIP-Seq_HL-1_Mouse1.27228563
83NRF2_20460467_ChIP-Seq_MEFs_Mouse1.26879661
84NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.26879661
85REST_21632747_ChIP-Seq_MESCs_Mouse1.25595529
86EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.25353262
87TP53_18474530_ChIP-ChIP_U2OS_Human1.25342338
88KLF5_20875108_ChIP-Seq_MESCs_Mouse1.24894551
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.24472131
90POU5F1_16153702_ChIP-ChIP_HESCs_Human1.22188898
91SMAD4_21799915_ChIP-Seq_A2780_Human1.22105207
92GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.22055425
93FOXA1_27270436_Chip-Seq_PROSTATE_Human1.21880595
94FOXA1_25329375_ChIP-Seq_VCAP_Human1.21880595
95OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21552352
96ARNT_22903824_ChIP-Seq_MCF-7_Human1.21440634
97P300_19829295_ChIP-Seq_ESCs_Human1.20736906
98EST1_17652178_ChIP-ChIP_JURKAT_Human1.20268321
99TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.20021551
100SMAD4_21741376_ChIP-Seq_EPCs_Human1.18878898
101SOX2_20726797_ChIP-Seq_SW620_Human1.18422381
102PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.17737124
103AHR_22903824_ChIP-Seq_MCF-7_Human1.17389833
104IKZF1_21737484_ChIP-ChIP_HCT116_Human1.17019519
105AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16885816
106P53_22387025_ChIP-Seq_ESCs_Mouse1.15568271
107SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14638306
108TP53_16413492_ChIP-PET_HCT116_Human1.14102607
109STAT3_18555785_Chip-Seq_ESCs_Mouse1.14100581
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.12868400
111CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.12744547
112SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11648473
113E2F1_18555785_Chip-Seq_ESCs_Mouse1.11615968
114CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11255938
115CRX_20693478_ChIP-Seq_RETINA_Mouse1.11234066
116IRF1_19129219_ChIP-ChIP_H3396_Human1.10928308
117GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.10389067
118SUZ12_18555785_Chip-Seq_ESCs_Mouse1.10031030
119SMAD3_21741376_ChIP-Seq_EPCs_Human1.08453078
120EGR1_23403033_ChIP-Seq_LIVER_Mouse1.08294969
121CDX2_22108803_ChIP-Seq_LS180_Human1.06870854
122CMYC_18555785_Chip-Seq_ESCs_Mouse1.06292686
123UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06276120
124RNF2_27304074_Chip-Seq_NSC_Mouse1.06225373
125HOXB7_26014856_ChIP-Seq_BT474_Human1.06137297
126BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05729011
127P300_18555785_Chip-Seq_ESCs_Mouse1.03907554
128SOX9_24532713_ChIP-Seq_HFSC_Mouse1.03842896
129ZNF274_21170338_ChIP-Seq_K562_Hela1.03672912
130RARG_19884340_ChIP-ChIP_MEFs_Mouse1.02567720
131STAT6_21828071_ChIP-Seq_BEAS2B_Human1.02319327
132BCAT_22108803_ChIP-Seq_LS180_Human1.02087434
133RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.01485877
134NCOR_22424771_ChIP-Seq_293T_Human1.01048703
135GATA3_21878914_ChIP-Seq_MCF-7_Human1.00679624
136AR_20517297_ChIP-Seq_VCAP_Human1.00389746
137NR3C1_23031785_ChIP-Seq_PC12_Mouse1.00097277
138FOXA1_21572438_ChIP-Seq_LNCaP_Human1.00061345
139CDX2_20551321_ChIP-Seq_CACO-2_Human0.99968394
140RING1B_27294783_Chip-Seq_NPCs_Mouse0.99728019
141FLI1_21867929_ChIP-Seq_TH2_Mouse0.99350030
142EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.98628396
143PCGF2_27294783_Chip-Seq_ESCs_Mouse0.96181655
144TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94236890
145KDM2B_26808549_Chip-Seq_REH_Human0.93908632
146NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93266697
147AR_25329375_ChIP-Seq_VCAP_Human0.93238418
148TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93125786
149RING1B_27294783_Chip-Seq_ESCs_Mouse0.92756940
150POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92444833
151SMAD3_21741376_ChIP-Seq_HESCs_Human0.91983148
152RUNX2_22187159_ChIP-Seq_PCA_Human0.91959275
153FLI1_27457419_Chip-Seq_LIVER_Mouse0.91734158
154PPAR_26484153_Chip-Seq_NCI-H1993_Human0.91531093
155WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91188123
156SMAD4_21741376_ChIP-Seq_HESCs_Human0.90966663
157SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90220719
158ERG_21242973_ChIP-ChIP_JURKAT_Human0.89811630
159GATA2_21666600_ChIP-Seq_HMVEC_Human0.89773792
160ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.89128467
161DROSHA_22980978_ChIP-Seq_HELA_Human0.88466469
162CLOCK_20551151_ChIP-Seq_293T_Human0.87784913
163RXR_22108803_ChIP-Seq_LS180_Human0.87485971
164MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.87356678
165MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.86363896

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.92242251
2MP0005275_abnormal_skin_tensile4.00264518
3MP0008877_abnormal_DNA_methylation3.59512867
4MP0005503_abnormal_tendon_morphology3.39210905
5MP0000383_abnormal_hair_follicle3.19792400
6MP0003195_calcinosis2.95036676
7MP0005551_abnormal_eye_electrophysiolog2.55864992
8MP0010678_abnormal_skin_adnexa2.46016642
9MP0005379_endocrine/exocrine_gland_phen2.32631726
10MP0009250_abnormal_appendicular_skeleto2.30227546
11MP0002254_reproductive_system_inflammat2.23568952
12MP0005645_abnormal_hypothalamus_physiol2.22405217
13MP0001958_emphysema2.22275330
14MP0002102_abnormal_ear_morphology2.20016119
15MP0004134_abnormal_chest_morphology2.19703717
16MP0003890_abnormal_embryonic-extraembry2.13865994
17MP0004272_abnormal_basement_membrane2.10850688
18MP0004142_abnormal_muscle_tone2.09566138
19MP0002938_white_spotting2.09520520
20MP0010234_abnormal_vibrissa_follicle2.04432220
21MP0002163_abnormal_gland_morphology2.01524577
22MP0009384_cardiac_valve_regurgitation2.00569877
23MP0004133_heterotaxia1.93688806
24MP0003880_abnormal_central_pattern1.92153722
25MP0006292_abnormal_olfactory_placode1.91412247
26MP0003283_abnormal_digestive_organ1.90437184
27MP0000762_abnormal_tongue_morphology1.90318472
28MP0003279_aneurysm1.82790725
29MP0003011_delayed_dark_adaptation1.79383333
30MP0002909_abnormal_adrenal_gland1.78926068
31MP0005253_abnormal_eye_physiology1.77024829
32MP0001501_abnormal_sleep_pattern1.71007846
33MP0003787_abnormal_imprinting1.69247170
34MP0002282_abnormal_trachea_morphology1.68905646
35MP0009046_muscle_twitch1.66304770
36MP0008872_abnormal_physiological_respon1.64941125
37MP0002234_abnormal_pharynx_morphology1.64762185
38MP0000427_abnormal_hair_cycle1.63001742
39MP0009379_abnormal_foot_pigmentation1.62507934
40MP0000163_abnormal_cartilage_morphology1.61390467
41MP0004043_abnormal_pH_regulation1.61210484
42MP0005508_abnormal_skeleton_morphology1.60738392
43MP0002060_abnormal_skin_morphology1.60158006
44MP0009745_abnormal_behavioral_response1.53820285
45MP0002876_abnormal_thyroid_physiology1.52642480
46MP0002933_joint_inflammation1.51884669
47MP0000631_abnormal_neuroendocrine_gland1.50709128
48MP0002735_abnormal_chemical_nociception1.50514659
49MP0005646_abnormal_pituitary_gland1.50341986
50MP0002249_abnormal_larynx_morphology1.47411389
51MP0006276_abnormal_autonomic_nervous1.45585138
52MP0001984_abnormal_olfaction1.43452895
53MP0003718_maternal_effect1.43343662
54MP0002638_abnormal_pupillary_reflex1.40844573
55MP0004147_increased_porphyrin_level1.40683414
56MP0001486_abnormal_startle_reflex1.39828206
57MP0004858_abnormal_nervous_system1.39283317
58MP0002896_abnormal_bone_mineralization1.38773448
59MP0009780_abnormal_chondrocyte_physiolo1.37652767
60MP0002272_abnormal_nervous_system1.37244825
61MP0003942_abnormal_urinary_system1.36856112
62MP0005171_absent_coat_pigmentation1.35653177
63MP0005332_abnormal_amino_acid1.35004370
64MP0002837_dystrophic_cardiac_calcinosis1.34314132
65MP0002233_abnormal_nose_morphology1.31888009
66MP0008004_abnormal_stomach_pH1.31802424
67MP0000537_abnormal_urethra_morphology1.31686499
68MP0000049_abnormal_middle_ear1.30986834
69MP0001485_abnormal_pinna_reflex1.29194997
70MP0002115_abnormal_skeleton_extremities1.28990638
71MP0002108_abnormal_muscle_morphology1.28458964
72MP0001299_abnormal_eye_distance/1.28317854
73MP0001346_abnormal_lacrimal_gland1.27197875
74MP0003122_maternal_imprinting1.26599947
75MP0000462_abnormal_digestive_system1.26472435
76MP0005623_abnormal_meninges_morphology1.25134460
77MP0002277_abnormal_respiratory_mucosa1.24970296
78MP0008057_abnormal_DNA_replication1.24001515
79MP0002796_impaired_skin_barrier1.23264164
80MP0001270_distended_abdomen1.23159418
81MP0004019_abnormal_vitamin_homeostasis1.23129796
82MP0000534_abnormal_ureter_morphology1.21528786
83MP0010386_abnormal_urinary_bladder1.19573275
84MP0002557_abnormal_social/conspecific_i1.19488873
85MP0008875_abnormal_xenobiotic_pharmacok1.18743698
86MP0002693_abnormal_pancreas_physiology1.17253931
87MP0003385_abnormal_body_wall1.17144560
88MP0002295_abnormal_pulmonary_circulatio1.17028815
89MP0000230_abnormal_systemic_arterial1.15880597
90MP0001944_abnormal_pancreas_morphology1.13886362
91MP0000538_abnormal_urinary_bladder1.12611035
92MP0001661_extended_life_span1.12604711
93MP0010329_abnormal_lipoprotein_level1.12478881
94MP0002009_preneoplasia1.11201902
95MP0004885_abnormal_endolymph1.10472950
96MP0000579_abnormal_nail_morphology1.09614028
97MP0000569_abnormal_digit_pigmentation1.09518627
98MP0010771_integument_phenotype1.07855593
99MP0002572_abnormal_emotion/affect_behav1.06625856
100MP0001986_abnormal_taste_sensitivity1.06414884
101MP0001542_abnormal_bone_strength1.05655698
102MP0003646_muscle_fatigue1.04141752
103MP0005084_abnormal_gallbladder_morpholo1.03522645
104MP0002734_abnormal_mechanical_nocicepti1.03490860
105MP0003724_increased_susceptibility_to1.03004882
106MP0006072_abnormal_retinal_apoptosis1.02491461
107MP0005164_abnormal_response_to1.01545759
108MP0001970_abnormal_pain_threshold1.01435798
109MP0003937_abnormal_limbs/digits/tail_de1.00448165
110MP0003950_abnormal_plasma_membrane1.00427860
111MP0000647_abnormal_sebaceous_gland1.00321273
112MP0004883_abnormal_blood_vessel0.99882315
113MP0001664_abnormal_digestion0.99269156
114MP0002113_abnormal_skeleton_development0.98170007
115MP0001963_abnormal_hearing_physiology0.98155778
116MP0005367_renal/urinary_system_phenotyp0.97179738
117MP0000516_abnormal_urinary_system0.97179738
118MP0005448_abnormal_energy_balance0.96836862
119MP0000751_myopathy0.96728070
120MP0001529_abnormal_vocalization0.96309988
121MP0003121_genomic_imprinting0.95050383
122MP0002067_abnormal_sensory_capabilities0.94797347
123MP0005174_abnormal_tail_pigmentation0.94525519
124MP0005365_abnormal_bile_salt0.94478324
125MP0008058_abnormal_DNA_repair0.94400917
126MP0001177_atelectasis0.93843494
127MP0003091_abnormal_cell_migration0.93340861
128MP0002653_abnormal_ependyma_morphology0.93027006
129MP0001756_abnormal_urination0.92777682
130MP0005386_behavior/neurological_phenoty0.92443246
131MP0004924_abnormal_behavior0.92443246
132MP0005195_abnormal_posterior_eye0.91397711
133MP0002733_abnormal_thermal_nociception0.91307719
134MP0006138_congestive_heart_failure0.91272225
135MP0002098_abnormal_vibrissa_morphology0.90876980
136MP0005390_skeleton_phenotype0.90853735
137MP0004484_altered_response_of0.90599162
138MP0005023_abnormal_wound_healing0.90592271
139MP0003045_fibrosis0.90286101
140MP0002109_abnormal_limb_morphology0.89567626
141MP0003566_abnormal_cell_adhesion0.89563828
142MP0005388_respiratory_system_phenotype0.89534296
143MP0002133_abnormal_respiratory_system0.89534296
144MP0002932_abnormal_joint_morphology0.87216820
145MP0002139_abnormal_hepatobiliary_system0.86846687
146MP0005410_abnormal_fertilization0.85806895
147MP0002184_abnormal_innervation0.85700144
148MP0001188_hyperpigmentation0.84938888
149MP0003878_abnormal_ear_physiology0.84587828
150MP0005377_hearing/vestibular/ear_phenot0.84587828
151MP0005670_abnormal_white_adipose0.84392870
152MP0000467_abnormal_esophagus_morphology0.84318952
153MP0000639_abnormal_adrenal_gland0.84083091
154MP0005394_taste/olfaction_phenotype0.83387262
155MP0005499_abnormal_olfactory_system0.83387262
156MP0003828_pulmonary_edema0.82808427
157MP0002069_abnormal_eating/drinking_beha0.82560374
158MP0001968_abnormal_touch/_nociception0.82308094
159MP0004742_abnormal_vestibular_system0.81984495
160MP0002736_abnormal_nociception_after0.81515504
161MP0002168_other_aberrant_phenotype0.81083834
162MP0000026_abnormal_inner_ear0.81057330
163MP0000681_abnormal_thyroid_gland0.80458805
164MP0005187_abnormal_penis_morphology0.80302818
165MP0000372_irregular_coat_pigmentation0.80180856
166MP0002751_abnormal_autonomic_nervous0.79775534
167MP0003635_abnormal_synaptic_transmissio0.79551893
168MP0002063_abnormal_learning/memory/cond0.79277458
169MP0005389_reproductive_system_phenotype0.78988194
170MP0005666_abnormal_adipose_tissue0.78772908
171MP0004185_abnormal_adipocyte_glucose0.78593845
172MP0004215_abnormal_myocardial_fiber0.77566825
173MP0003698_abnormal_male_reproductive0.77229247
174MP0004270_analgesia0.77072529
175MP0000013_abnormal_adipose_tissue0.75574457
176MP0002116_abnormal_craniofacial_bone0.75102105
177MP0001324_abnormal_eye_pigmentation0.74390046
178MP0003119_abnormal_digestive_system0.74102645
179MP0003755_abnormal_palate_morphology0.73047079
180MP0004130_abnormal_muscle_cell0.72801623
181MP0000920_abnormal_myelination0.72487780

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)5.16690427
2Epiphyseal dysplasia (HP:0002656)4.39805194
3Neonatal short-limb short stature (HP:0008921)4.27598974
4Pancreatic cysts (HP:0001737)4.01108349
5Abnormality of midbrain morphology (HP:0002418)4.00700803
6Molar tooth sign on MRI (HP:0002419)4.00700803
7Protrusio acetabuli (HP:0003179)3.92736564
8Premature rupture of membranes (HP:0001788)3.76620450
9Metaphyseal dysplasia (HP:0100255)3.69869378
10Nephronophthisis (HP:0000090)3.63161639
11Congenital stationary night blindness (HP:0007642)3.59188667
12Follicular hyperkeratosis (HP:0007502)3.50827317
13True hermaphroditism (HP:0010459)3.48966314
14Cervical subluxation (HP:0003308)3.45019714
15Pancreatic fibrosis (HP:0100732)3.40783465
16Type II lissencephaly (HP:0007260)3.40606495
17Onycholysis (HP:0001806)3.15856305
18Fragile skin (HP:0001030)3.15650044
19Intestinal atresia (HP:0011100)3.15348373
20Broad metatarsal (HP:0001783)3.14300466
21Medial flaring of the eyebrow (HP:0010747)3.09966755
22Abnormality of the renal cortex (HP:0011035)3.06018532
23Abnormality of the renal medulla (HP:0100957)3.05526587
24Aortic dissection (HP:0002647)3.02381716
25Hyperventilation (HP:0002883)3.02176169
26Cerebellar dysplasia (HP:0007033)2.86796597
27Tubular atrophy (HP:0000092)2.85874812
28Ulnar claw (HP:0001178)2.83277611
29Parakeratosis (HP:0001036)2.80210697
30Abnormality of the 2nd finger (HP:0004100)2.76698730
31Milia (HP:0001056)2.74376425
32Aplasia/Hypoplasia of the fovea (HP:0008060)2.73018683
33Hypoplasia of the fovea (HP:0007750)2.73018683
34Aplasia involving bones of the extremities (HP:0009825)2.71770531
35Aplasia involving bones of the upper limbs (HP:0009823)2.71770531
36Aplasia of the phalanges of the hand (HP:0009802)2.71770531
37Attenuation of retinal blood vessels (HP:0007843)2.71545986
38Cupped ribs (HP:0000887)2.69629064
39Spinal cord compression (HP:0002176)2.68120689
40Vitreoretinal degeneration (HP:0000655)2.64862780
41Gait imbalance (HP:0002141)2.63925451
42Osteoarthritis (HP:0002758)2.62788718
43Wormian bones (HP:0002645)2.62707459
44Congenital primary aphakia (HP:0007707)2.54944116
45Chronic hepatic failure (HP:0100626)2.54679652
46Large for gestational age (HP:0001520)2.53243827
47Ankle contracture (HP:0006466)2.53186095
48Congenital, generalized hypertrichosis (HP:0004540)2.49231187
49Infantile muscular hypotonia (HP:0008947)2.45664914
50Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.45185948
51Abnormality of alanine metabolism (HP:0010916)2.45185948
52Hyperalaninemia (HP:0003348)2.45185948
53Abolished electroretinogram (ERG) (HP:0000550)2.45175110
54Hypoplastic ischia (HP:0003175)2.42015182
55Abnormality of dentin (HP:0010299)2.41489311
56Pendular nystagmus (HP:0012043)2.40480511
57Cystic liver disease (HP:0006706)2.38038992
58Abnormal hemoglobin (HP:0011902)2.37769125
59Right ventricular cardiomyopathy (HP:0011663)2.36332557
60Spinal rigidity (HP:0003306)2.36262416
61Limited hip movement (HP:0008800)2.35630809
62Aortic aneurysm (HP:0004942)2.33056782
63Lissencephaly (HP:0001339)2.32815234
64Abnormality of carpal bone ossification (HP:0006257)2.32361898
65Abnormal drinking behavior (HP:0030082)2.32180006
66Polydipsia (HP:0001959)2.32180006
67Mixed hearing impairment (HP:0000410)2.31567602
68Vascular tortuosity (HP:0004948)2.31153554
69Nephrogenic diabetes insipidus (HP:0009806)2.30709790
70Acute necrotizing encephalopathy (HP:0006965)2.28927331
71Abnormality of the fovea (HP:0000493)2.28332414
72Syringomyelia (HP:0003396)2.27476970
73Spinal cord lesions (HP:0100561)2.27476970
74Abnormality of the ischium (HP:0003174)2.27246835
75Bell-shaped thorax (HP:0001591)2.24733782
76Irregular epiphyses (HP:0010582)2.24510997
77Bilateral microphthalmos (HP:0007633)2.23707858
78Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.23559544
79Fragile nails (HP:0001808)2.23337866
80Colon cancer (HP:0003003)2.21752801
81Inability to walk (HP:0002540)2.21128072
82Hypoplasia of the iris (HP:0007676)2.20881797
83Acute encephalopathy (HP:0006846)2.20168294
84Keratoconus (HP:0000563)2.19520380
85Increased corneal curvature (HP:0100692)2.19520380
86Gaze-evoked nystagmus (HP:0000640)2.19325066
87Acanthosis nigricans (HP:0000956)2.18123897
88Bradycardia (HP:0001662)2.16901187
89Renal cortical cysts (HP:0000803)2.16682552
90Genu varum (HP:0002970)2.14531996
91Alacrima (HP:0000522)2.13770691
92Coronal craniosynostosis (HP:0004440)2.13265979
93Gastrointestinal atresia (HP:0002589)2.12695527
94Male pseudohermaphroditism (HP:0000037)2.12307600
95Abnormality of the pons (HP:0007361)2.11908290
96Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.10647376
97Methylmalonic acidemia (HP:0002912)2.10486877
98Increased CSF lactate (HP:0002490)2.10168479
99Type 1 muscle fiber predominance (HP:0003803)2.07857009
100Nasolacrimal duct obstruction (HP:0000579)2.07519959
101Furrowed tongue (HP:0000221)2.07334978
102Broad-based gait (HP:0002136)2.05600761
103Aplasia/Hypoplasia of the tibia (HP:0005772)2.04929902
104Mitochondrial inheritance (HP:0001427)2.04695927
105Hypoplasia of the pons (HP:0012110)2.04560524
106Progressive inability to walk (HP:0002505)2.04209937
107Abnormal tarsal ossification (HP:0008369)2.03908471
108Progressive macrocephaly (HP:0004481)2.03844246
109Sclerocornea (HP:0000647)2.03639449
110Hypotrichosis (HP:0001006)2.03546093
111Anencephaly (HP:0002323)2.02763621
112Abnormality of incisor morphology (HP:0011063)2.02508463
113Genital tract atresia (HP:0001827)2.02316709
114Down-sloping shoulders (HP:0200021)2.02235113
115Hyperglycinemia (HP:0002154)2.02084208
116Morphological abnormality of the middle ear (HP:0008609)2.01316913
117Shallow orbits (HP:0000586)2.01179705
118Flat acetabular roof (HP:0003180)2.00396465
119Abnormality of vitamin B metabolism (HP:0004340)2.00047029
120Vaginal atresia (HP:0000148)1.99056802
121Lipid accumulation in hepatocytes (HP:0006561)1.98490969
122Hemiparesis (HP:0001269)1.98191855
123Progressive cerebellar ataxia (HP:0002073)1.97775756
124Abnormal rod and cone electroretinograms (HP:0008323)1.96869242
125Long nose (HP:0003189)1.95987919
126Methylmalonic aciduria (HP:0012120)1.95876843
127Poor coordination (HP:0002370)1.95556787
128Volvulus (HP:0002580)1.93783351
129Occipital encephalocele (HP:0002085)1.93569685
130Oligomenorrhea (HP:0000876)1.92971288
131Mild short stature (HP:0003502)1.92417390
132Protruding tongue (HP:0010808)1.91203844
133Abnormality of the phalanges of the 2nd finger (HP:0009541)1.90185825
134Abnormality of the middle phalanges of the toes (HP:0010183)1.90118346
135Abnormal mitochondria in muscle tissue (HP:0008316)1.89708732
136Biconcave vertebral bodies (HP:0004586)1.87498238
137Increased connective tissue (HP:0009025)1.86406962
138Severe Myopia (HP:0011003)1.85767140
139Flat capital femoral epiphysis (HP:0003370)1.85668405
140Aplasia/Hypoplasia of the tongue (HP:0010295)1.85398840
141Fair hair (HP:0002286)1.85169396
142Knee flexion contracture (HP:0006380)1.85121786
143Cutaneous finger syndactyly (HP:0010554)1.83992497
144Steppage gait (HP:0003376)1.83272060
145Bony spicule pigmentary retinopathy (HP:0007737)1.83035932
146Elbow flexion contracture (HP:0002987)1.82706577
147Optic nerve hypoplasia (HP:0000609)1.82026629
148Hypothermia (HP:0002045)1.81840820
149Arterial tortuosity (HP:0005116)1.81571884
150Narrow nasal bridge (HP:0000446)1.81003895
151Birth length less than 3rd percentile (HP:0003561)1.80622725
152Postaxial foot polydactyly (HP:0001830)1.80228853
153Soft skin (HP:0000977)1.79936362
154Blue sclerae (HP:0000592)1.79349172
155Unilateral renal agenesis (HP:0000122)1.78261345
156Ketoacidosis (HP:0001993)1.78068971
157Decreased electroretinogram (ERG) amplitude (HP:0000654)1.77920040
158Asymmetry of the thorax (HP:0001555)1.77876661
159Absent frontal sinuses (HP:0002688)1.77209420
160Ketosis (HP:0001946)1.76907165
161Congenital hepatic fibrosis (HP:0002612)1.76805759
162Slender build (HP:0001533)1.76185345
163Hypoplasia of the odontoid process (HP:0003311)1.75960810
164Abnormal ossification of hand bones (HP:0005921)1.75747396
165Ovoid vertebral bodies (HP:0003300)1.75746405
166Abnormality of urine glucose concentration (HP:0011016)1.75517899
167Glycosuria (HP:0003076)1.75517899
168Severe muscular hypotonia (HP:0006829)1.74886360
169Mesomelia (HP:0003027)1.74613950
170Decreased circulating renin level (HP:0003351)1.74538056
171Bronchomalacia (HP:0002780)1.73828199
172Polyuria (HP:0000103)1.73599477
173Abnormality of the nasolacrimal system (HP:0000614)1.73470435
174Congenital malformation of the right heart (HP:0011723)1.73358200
175Double outlet right ventricle (HP:0001719)1.73358200
176Ectopia lentis (HP:0001083)1.73111454
177Aplasia cutis congenita (HP:0001057)1.72831844
178Lumbar hyperlordosis (HP:0002938)1.71682748
179Tachypnea (HP:0002789)1.71123328
180Femoral bowing (HP:0002980)1.71122561
181Fibular hypoplasia (HP:0003038)1.70941483
182Abnormality of the lacrimal duct (HP:0011481)1.70792273
183Joint laxity (HP:0001388)1.69973625
184Scapular winging (HP:0003691)1.69184930
185Optic disc pallor (HP:0000543)1.69144292
186Hypoventilation (HP:0002791)1.68816008
187Increased hepatocellular lipid droplets (HP:0006565)1.68603913
188Abnormal vertebral ossification (HP:0100569)1.68563338
189Aplasia/Hypoplasia of the uvula (HP:0010293)1.68419255
190Patellar aplasia (HP:0006443)1.68336716
191Coxa vara (HP:0002812)1.68278935
192Postaxial hand polydactyly (HP:0001162)1.67895112
193Corneal dystrophy (HP:0001131)1.67755120
194Craniofacial hyperostosis (HP:0004493)1.67440909
195Delayed epiphyseal ossification (HP:0002663)1.66620123
196Increased serum lactate (HP:0002151)1.66538825
197Hepatocellular necrosis (HP:0001404)1.66454308
198Abnormality of the axillary hair (HP:0100134)1.66337588
199Agitation (HP:0000713)1.65604149

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.74303102
2ACVR1B3.21717214
3DAPK22.80947307
4WNK32.68502280
5ZAK2.64474642
6MST42.42622300
7CASK2.40386216
8TRPM72.28811782
9LMTK22.20813335
10FER2.20096927
11EPHA22.18377719
12MAP4K22.09703869
13EPHB21.93758400
14INSRR1.89196977
15WNK11.85033513
16NTRK31.82986961
17EPHB11.82047784
18TNIK1.79087970
19ERBB31.78867671
20MAP2K21.78101758
21SIK11.77648190
22EPHA31.56585310
23MAP3K11.55920294
24BRSK21.52516066
25MAP2K11.47523471
26LATS21.47275696
27TLK11.47068172
28OXSR11.45970859
29MAPKAPK51.42321085
30TGFBR21.41812257
31PNCK1.40844620
32NTRK11.37296418
33BLK1.37195350
34MUSK1.36017696
35MAP3K41.32053609
36PINK11.30435630
37STK391.28221251
38MAPKAPK31.28029971
39GRK71.27646315
40TGFBR11.26551880
41MST1R1.26270589
42PIK3CA1.24142363
43MAPK151.22578112
44GRK51.20836637
45PAK21.18147910
46MAP3K131.16475909
47PLK21.11419605
48NLK1.11039726
49NTRK21.10734682
50DYRK21.09269738
51PRKG21.07250356
52FRK1.04633776
53PRKCE1.04065712
54TRIM281.01756129
55PRKCG1.01283830
56PDGFRA1.00776327
57PTK2B0.99594294
58CAMK1D0.99553232
59MAP3K90.97868732
60TAOK30.97606302
61LATS10.97130230
62ROCK20.94587979
63TIE10.93765992
64STK30.93341728
65TTN0.91552009
66FGFR20.91165065
67ADRBK10.90542411
68PAK30.90498826
69MYLK0.90292253
70MET0.89833674
71MAP3K20.89029333
72MAP2K70.87172449
73CAMKK20.86906024
74RPS6KB20.86741450
75PDK20.86418379
76ROCK10.85859202
77EPHA40.85712021
78PLK30.84032177
79BCKDK0.82155470
80BMPR20.82023358
81TSSK60.80938653
82GRK10.79644682
83EIF2AK30.79091616
84FGFR30.75947330
85NME10.75943717
86DMPK0.75806030
87BCR0.75435324
88IRAK10.74230873
89CAMK1G0.72995705
90MAP2K60.68885986
91CSNK1G10.67750388
92NUAK10.66668711
93LIMK10.63265892
94CSNK1A1L0.62859706
95MAPK130.62799528
96RPS6KA20.62736851
97PLK40.62417217
98CAMK2A0.62003950
99ADRBK20.61010688
100PHKG10.60643619
101PHKG20.60643619
102VRK10.60361318
103WEE10.57897191
104BMPR1B0.56819768
105EIF2AK20.56728908
106PRKCI0.56675569
107LRRK20.56208246
108CAMK2D0.56185331
109MAP3K30.56028983
110MKNK20.55892008
111STK110.55797455
112TEC0.55671433
113RET0.54648015
114IRAK20.54602744
115IRAK30.54487567
116WNK40.54398485
117INSR0.54250640
118MARK10.53791734
119PTK60.53262886
120PLK10.52739089
121MINK10.52219989
122MAP3K140.50785852
123CSNK1G30.50199731
124PDGFRB0.49581307
125SRC0.49578166
126CSNK1D0.49409058
127PRKG10.48437889
128PRKCH0.47625222
129MOS0.47607609
130STK38L0.46306687
131DYRK1A0.46260371
132RPS6KA50.45848423
133MKNK10.44687938
134MAP3K120.44273175
135PRKD10.42746737
136ATM0.42531910
137CSNK1A10.42140834
138ERBB40.41761743
139CSNK1G20.41193538
140DAPK10.41121976
141STK160.40900475
142IGF1R0.40846546
143PRKAA10.40283350
144PKN10.40263198
145PRKACA0.39348840
146AKT30.37691244
147TXK0.33549592
148CHUK0.33505581
149TAF10.32755107
150ATR0.31007148
151CSNK1E0.30750977
152CDK30.30340703
153ERBB20.29994575
154PRKACB0.29392799
155PRKCA0.29312796

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.48986313
2Maturity onset diabetes of the young_Homo sapiens_hsa049502.79655171
3Selenocompound metabolism_Homo sapiens_hsa004502.77611413
4Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.60247474
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.38092954
6Phototransduction_Homo sapiens_hsa047442.31821450
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.21810021
8Sulfur metabolism_Homo sapiens_hsa009202.16798885
9Oxidative phosphorylation_Homo sapiens_hsa001902.15217359
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.10060767
11Butanoate metabolism_Homo sapiens_hsa006502.09013290
12Protein digestion and absorption_Homo sapiens_hsa049742.04579130
13Nitrogen metabolism_Homo sapiens_hsa009101.93664450
14Arachidonic acid metabolism_Homo sapiens_hsa005901.93129142
15Tryptophan metabolism_Homo sapiens_hsa003801.85005157
16Basal transcription factors_Homo sapiens_hsa030221.79449532
17Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.79349156
18Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.77891264
19Focal adhesion_Homo sapiens_hsa045101.71393268
20Propanoate metabolism_Homo sapiens_hsa006401.70424841
21Caffeine metabolism_Homo sapiens_hsa002321.68731974
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.67189100
23Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.58192476
24Homologous recombination_Homo sapiens_hsa034401.56258498
25Primary bile acid biosynthesis_Homo sapiens_hsa001201.53093559
26Parkinsons disease_Homo sapiens_hsa050121.52365249
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.49652620
28Renin secretion_Homo sapiens_hsa049241.41829218
29Dorso-ventral axis formation_Homo sapiens_hsa043201.40931099
30RNA polymerase_Homo sapiens_hsa030201.40269960
31Taste transduction_Homo sapiens_hsa047421.39822489
32Glutathione metabolism_Homo sapiens_hsa004801.36973819
33Salivary secretion_Homo sapiens_hsa049701.35160519
34Thyroid hormone synthesis_Homo sapiens_hsa049181.33729073
35Axon guidance_Homo sapiens_hsa043601.32106110
36Fanconi anemia pathway_Homo sapiens_hsa034601.26784344
37RNA degradation_Homo sapiens_hsa030181.24910858
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.23997078
39Folate biosynthesis_Homo sapiens_hsa007901.22389086
40Hedgehog signaling pathway_Homo sapiens_hsa043401.21890725
41One carbon pool by folate_Homo sapiens_hsa006701.21716573
42Retinol metabolism_Homo sapiens_hsa008301.17770833
43Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.17683966
44Pentose and glucuronate interconversions_Homo sapiens_hsa000401.16956511
45Sphingolipid metabolism_Homo sapiens_hsa006001.16846587
46Vitamin B6 metabolism_Homo sapiens_hsa007501.15779821
47Gastric acid secretion_Homo sapiens_hsa049711.13386505
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.12774817
49Serotonergic synapse_Homo sapiens_hsa047261.12496343
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.12224306
51Non-homologous end-joining_Homo sapiens_hsa034501.10052813
52Huntingtons disease_Homo sapiens_hsa050161.10021014
53PPAR signaling pathway_Homo sapiens_hsa033201.09558508
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.09509222
55Regulation of autophagy_Homo sapiens_hsa041401.09217057
56Peroxisome_Homo sapiens_hsa041461.08880910
57Amoebiasis_Homo sapiens_hsa051461.07301080
58Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.05940111
59Melanogenesis_Homo sapiens_hsa049161.05583671
60Melanoma_Homo sapiens_hsa052181.05301012
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.05126206
62PI3K-Akt signaling pathway_Homo sapiens_hsa041511.04376617
63Proteoglycans in cancer_Homo sapiens_hsa052051.03963121
64Chemical carcinogenesis_Homo sapiens_hsa052041.03870944
65Fatty acid biosynthesis_Homo sapiens_hsa000611.01431487
66Circadian entrainment_Homo sapiens_hsa047131.00096750
67Cardiac muscle contraction_Homo sapiens_hsa042600.99610976
68Alzheimers disease_Homo sapiens_hsa050100.98890547
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.98832196
70Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97492152
71Long-term depression_Homo sapiens_hsa047300.97070173
72beta-Alanine metabolism_Homo sapiens_hsa004100.96472923
73Ras signaling pathway_Homo sapiens_hsa040140.95143829
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.94474486
75AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93652689
76alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.92888147
77Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.92320084
78Ether lipid metabolism_Homo sapiens_hsa005650.91359131
79Nicotine addiction_Homo sapiens_hsa050330.91257043
80Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.89511612
81Basal cell carcinoma_Homo sapiens_hsa052170.88432391
82Amphetamine addiction_Homo sapiens_hsa050310.88127927
83Cysteine and methionine metabolism_Homo sapiens_hsa002700.87858479
84Steroid biosynthesis_Homo sapiens_hsa001000.86740785
85Cocaine addiction_Homo sapiens_hsa050300.86411532
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.85657275
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.85588156
88Fatty acid elongation_Homo sapiens_hsa000620.85330060
89Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85284257
90Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.83251574
91GnRH signaling pathway_Homo sapiens_hsa049120.82559670
92Ovarian steroidogenesis_Homo sapiens_hsa049130.82347755
93African trypanosomiasis_Homo sapiens_hsa051430.81370091
94Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.81235441
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.79499555
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.76645448
97Hippo signaling pathway_Homo sapiens_hsa043900.76593467
98Metabolic pathways_Homo sapiens_hsa011000.75925597
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.74038936
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.73715405
101Calcium signaling pathway_Homo sapiens_hsa040200.73506191
102cAMP signaling pathway_Homo sapiens_hsa040240.73361889
103Dilated cardiomyopathy_Homo sapiens_hsa054140.72086011
104ABC transporters_Homo sapiens_hsa020100.71311949
105Bladder cancer_Homo sapiens_hsa052190.70089989
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.69275140
107Protein export_Homo sapiens_hsa030600.69079041
108Circadian rhythm_Homo sapiens_hsa047100.68855254
109Fat digestion and absorption_Homo sapiens_hsa049750.68270609
110Glutamatergic synapse_Homo sapiens_hsa047240.67944112
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.67845772
112Mineral absorption_Homo sapiens_hsa049780.67810427
113Vitamin digestion and absorption_Homo sapiens_hsa049770.67691393
114Linoleic acid metabolism_Homo sapiens_hsa005910.66352252
115Rap1 signaling pathway_Homo sapiens_hsa040150.66211420
116Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66162867
117Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65159249
118Estrogen signaling pathway_Homo sapiens_hsa049150.64999405
119Prion diseases_Homo sapiens_hsa050200.64843355
120ErbB signaling pathway_Homo sapiens_hsa040120.64154427
121Purine metabolism_Homo sapiens_hsa002300.63158935
122Olfactory transduction_Homo sapiens_hsa047400.63129618
123Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.62962803
124Dopaminergic synapse_Homo sapiens_hsa047280.62798226
125Wnt signaling pathway_Homo sapiens_hsa043100.62248095
126Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.60853289
127Complement and coagulation cascades_Homo sapiens_hsa046100.59176594
128Collecting duct acid secretion_Homo sapiens_hsa049660.58658011
129Aldosterone synthesis and secretion_Homo sapiens_hsa049250.58185135
130Oxytocin signaling pathway_Homo sapiens_hsa049210.57735479
131Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.57610558
132GABAergic synapse_Homo sapiens_hsa047270.56937136
133Malaria_Homo sapiens_hsa051440.56776361
134Cholinergic synapse_Homo sapiens_hsa047250.56717654
135Gap junction_Homo sapiens_hsa045400.56680036
136Fatty acid degradation_Homo sapiens_hsa000710.56257991
137Long-term potentiation_Homo sapiens_hsa047200.55903756
138Vibrio cholerae infection_Homo sapiens_hsa051100.55693673
139Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55653252
140Platelet activation_Homo sapiens_hsa046110.55368681
141Histidine metabolism_Homo sapiens_hsa003400.55362750
142Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54779928
143Phenylalanine metabolism_Homo sapiens_hsa003600.54502444
144Small cell lung cancer_Homo sapiens_hsa052220.54420336
145Tight junction_Homo sapiens_hsa045300.52844713
146Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.52471366
147Drug metabolism - other enzymes_Homo sapiens_hsa009830.52057264
148Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.51469596
149Morphine addiction_Homo sapiens_hsa050320.51019590
150Nucleotide excision repair_Homo sapiens_hsa034200.50904394
151Phagosome_Homo sapiens_hsa041450.50847286
152Fatty acid metabolism_Homo sapiens_hsa012120.50821047
153Insulin secretion_Homo sapiens_hsa049110.49984991
154Glycerolipid metabolism_Homo sapiens_hsa005610.49403670
155Proteasome_Homo sapiens_hsa030500.41132564
156Pyrimidine metabolism_Homo sapiens_hsa002400.39847453
157Pyruvate metabolism_Homo sapiens_hsa006200.38631050
158TGF-beta signaling pathway_Homo sapiens_hsa043500.38039434
159Arginine and proline metabolism_Homo sapiens_hsa003300.37210600

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