ADAM2

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 ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* multicellular organism reproduction (GO:0032504)9.99052935
2negative regulation of calcium ion-dependent exocytosis (GO:0045955)9.94750583
3negative regulation of glycogen biosynthetic process (GO:0045719)9.93730779
4male meiosis (GO:0007140)9.92162859
5acrosome reaction (GO:0007340)9.86815093
6epithelial cilium movement (GO:0003351)9.82771073
7motile cilium assembly (GO:0044458)9.64308697
8cell wall macromolecule metabolic process (GO:0044036)9.63230722
9cell wall macromolecule catabolic process (GO:0016998)9.63230722
10* binding of sperm to zona pellucida (GO:0007339)9.37111758
11* cell-cell recognition (GO:0009988)9.36523928
12iron ion import (GO:0097286)9.23554426
13spermatid development (GO:0007286)9.10964109
14epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.91356071
15synaptonemal complex organization (GO:0070193)8.88462299
16cilium movement (GO:0003341)8.69072120
17* plasma membrane fusion (GO:0045026)8.55847855
18synaptonemal complex assembly (GO:0007130)8.41179619
19phenol-containing compound catabolic process (GO:0019336)8.07728988
20beta-amyloid metabolic process (GO:0050435)8.07008494
21* reproduction (GO:0000003)8.05307102
22negative regulation of glycogen metabolic process (GO:0070874)7.69043374
23insulin-like growth factor receptor signaling pathway (GO:0048009)7.68313358
24neurotransmitter catabolic process (GO:0042135)7.62799913
25regulation of cilium movement (GO:0003352)7.60818530
26replicative senescence (GO:0090399)7.55246920
27DNA methylation involved in gamete generation (GO:0043046)7.48065815
28prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527.47395895
29* single fertilization (GO:0007338)6.90451432
30import into cell (GO:0098657)6.83093318
31angiotensin maturation (GO:0002003)6.70782992
32male meiosis I (GO:0007141)6.70034479
33sperm capacitation (GO:0048240)6.52402102
34* fertilization (GO:0009566)6.17307853
35negative regulation of inclusion body assembly (GO:0090084)6.08252447
36chromosome organization involved in meiosis (GO:0070192)6.03144792
37spermatogenesis (GO:0007283)5.80255007
38male gamete generation (GO:0048232)5.78204270
39meiotic nuclear division (GO:0007126)5.76364933
40negative regulation of glucose import (GO:0046325)5.64097639
41ventricular system development (GO:0021591)5.53972281
42meiosis I (GO:0007127)5.45036210
43germ cell development (GO:0007281)5.34676592
44gamete generation (GO:0007276)5.31449990
45positive regulation of histone deacetylation (GO:0031065)5.28241286
46response to UV-B (GO:0010224)5.20817465
47* cellular process involved in reproduction in multicellular organism (GO:0022412)5.19650710
48phosphatidylcholine biosynthetic process (GO:0006656)5.19216070
49seminiferous tubule development (GO:0072520)5.13372270
50meiotic cell cycle (GO:0051321)5.12668266
51epithelial cell maturation (GO:0002070)5.08597863
52negative regulation of JUN kinase activity (GO:0043508)5.06103623
53microtubule depolymerization (GO:0007019)4.93694168
54protein localization to cilium (GO:0061512)4.93339662
55branching involved in prostate gland morphogenesis (GO:0060442)4.92262313
56regulation of inclusion body assembly (GO:0090083)4.85670599
57organic cation transport (GO:0015695)4.84833755
58protein localization to synapse (GO:0035418)4.76983087
59positive regulation of transcription from RNA polymerase III promoter (GO:0045945)4.61822989
60positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.55420673
61regulation of microtubule-based movement (GO:0060632)4.51359949
62calcium ion-dependent exocytosis (GO:0017156)4.50063910
63gene silencing by RNA (GO:0031047)4.50052872
64regulation of vesicle fusion (GO:0031338)4.45680837
65* cell recognition (GO:0008037)4.44277963
66fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.42180693
67monoubiquitinated protein deubiquitination (GO:0035520)4.39584282
68zinc ion homeostasis (GO:0055069)4.36676516
69microtubule severing (GO:0051013)4.35514299
70copper ion transport (GO:0006825)4.31409826
71left/right pattern formation (GO:0060972)4.26438024
72intraciliary transport (GO:0042073)4.18005480
73genitalia morphogenesis (GO:0035112)4.17888024
74negative regulation of glucose transport (GO:0010829)4.17255069
75multicellular organismal reproductive process (GO:0048609)4.17135384
76neurotransmitter biosynthetic process (GO:0042136)3.96699518
77positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)3.95055412
78cellular ketone body metabolic process (GO:0046950)3.92225143
79ectodermal placode formation (GO:0060788)3.90283185
80regulation of meiosis I (GO:0060631)3.77187847
81chaperone-mediated protein complex assembly (GO:0051131)3.76142016
82axoneme assembly (GO:0035082)3.74526840
83synapsis (GO:0007129)3.73171123
84sex differentiation (GO:0007548)3.68140115
85meiotic cell cycle process (GO:1903046)3.66293585
86negative regulation of organelle assembly (GO:1902116)3.65701323
87regulation of centriole replication (GO:0046599)3.62693371
88regulation of protein homodimerization activity (GO:0043496)3.60587051
89spermatid nucleus differentiation (GO:0007289)3.60234095
90positive regulation of protein deacetylation (GO:0090312)3.58475701
91protein polyglutamylation (GO:0018095)3.54740159
92microtubule-based movement (GO:0007018)3.54245160
93regulation of endothelial cell chemotaxis (GO:2001026)3.50579272
94zinc ion transmembrane transport (GO:0071577)3.48743944
95lactate metabolic process (GO:0006089)3.47615807
96cerebellar granule cell differentiation (GO:0021707)3.46594734
97carnitine transmembrane transport (GO:1902603)3.44425869
98amino-acid betaine transport (GO:0015838)3.43224761
99carnitine transport (GO:0015879)3.43224761
100nuclear pore complex assembly (GO:0051292)3.43043900
101ketone body metabolic process (GO:1902224)3.42349585
102positive regulation of membrane potential (GO:0045838)3.41590853
103multicellular organismal development (GO:0007275)3.39607517
104vascular endothelial growth factor signaling pathway (GO:0038084)3.36184151
105epithelial cell differentiation involved in prostate gland development (GO:0060742)3.32491551
106centriole replication (GO:0007099)3.32188112
107regulation of protein polyubiquitination (GO:1902914)3.29365778
108negative regulation of exocytosis (GO:0045920)3.28609132
109alditol metabolic process (GO:0019400)3.24607357
110negative regulation of insulin receptor signaling pathway (GO:0046627)3.24290803
111carnitine shuttle (GO:0006853)3.23541292
112regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.23225647
113cilium organization (GO:0044782)3.20582890
114intestinal epithelial cell development (GO:0060576)3.15153863
115regulation of histone deacetylation (GO:0031063)3.14854360
116glycerol ether metabolic process (GO:0006662)3.14594010
117centriole assembly (GO:0098534)3.14411040
118folic acid-containing compound metabolic process (GO:0006760)3.14139709
119negative regulation of cellular response to insulin stimulus (GO:1900077)3.12720685
120cerebellar Purkinje cell layer development (GO:0021680)3.11339431
121protein K6-linked ubiquitination (GO:0085020)3.09142641
122histone demethylation (GO:0016577)3.08659430
123regulation of glycogen biosynthetic process (GO:0005979)3.07375359
124regulation of glucan biosynthetic process (GO:0010962)3.07375359
125histone lysine demethylation (GO:0070076)3.06206453
126respiratory system process (GO:0003016)3.06189927
127prostate gland epithelium morphogenesis (GO:0060740)3.05519869
128regulation of spindle checkpoint (GO:0090231)3.04550486
129regulation of transcription from RNA polymerase III promoter (GO:0006359)3.04270570
130cilium assembly (GO:0042384)3.02754672
131polyol catabolic process (GO:0046174)3.02711645
132regulation of integrin-mediated signaling pathway (GO:2001044)3.02093398
133negative regulation of DNA repair (GO:0045738)3.01638968
134biotin metabolic process (GO:0006768)3.00787706
135somite rostral/caudal axis specification (GO:0032525)3.00382698
136cilium morphogenesis (GO:0060271)2.99847046
137protein refolding (GO:0042026)2.99431910
138gene silencing (GO:0016458)2.99274095
139regulation of female receptivity (GO:0045924)2.99165059
140mitotic sister chromatid cohesion (GO:0007064)2.97063303
141negative regulation of stress fiber assembly (GO:0051497)2.96223573
142cellular component assembly involved in morphogenesis (GO:0010927)2.95061276
143vesicle transport along microtubule (GO:0047496)2.92548183
144glycerol metabolic process (GO:0006071)2.90716190
145ether metabolic process (GO:0018904)2.89885021
146protein demethylation (GO:0006482)2.88916091
147protein dealkylation (GO:0008214)2.88916091
148neurotransmitter metabolic process (GO:0042133)2.88249820
149nucleoside diphosphate phosphorylation (GO:0006165)2.85673026
150DNA methylation (GO:0006306)2.85265302
151DNA alkylation (GO:0006305)2.85265302
152regulation of protein glycosylation (GO:0060049)2.85244898
153regulation of receptor binding (GO:1900120)2.82726726
154chromosome condensation (GO:0030261)2.82394928
155regulation of calcium ion-dependent exocytosis (GO:0017158)2.80598295
156DNA packaging (GO:0006323)2.79923600
157phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.79372366
158L-serine transport (GO:0015825)2.78558557
159regulation of chromatin binding (GO:0035561)2.78172701
160fatty acid transmembrane transport (GO:1902001)2.76782304
161negative regulation of JNK cascade (GO:0046329)2.74739335
162negative regulation of vascular permeability (GO:0043116)2.74575622
163nuclear pore organization (GO:0006999)2.70949543
164positive regulation of action potential (GO:0045760)2.69757472
165response to nitrosative stress (GO:0051409)2.69592023
166nucleus organization (GO:0006997)2.68571142
167negative regulation of embryonic development (GO:0045992)2.68377671
168potassium ion export (GO:0071435)2.68196263
169dorsal/ventral neural tube patterning (GO:0021904)2.67176212
170regulation of cardioblast proliferation (GO:0003264)2.66951184
171regulation of secondary heart field cardioblast proliferation (GO:0003266)2.66951184
172pore complex assembly (GO:0046931)2.66534562
173glycolytic process (GO:0006096)2.63903434
174peptidyl-glutamic acid modification (GO:0018200)2.63804967
175protein K11-linked deubiquitination (GO:0035871)2.63460140
176dopamine metabolic process (GO:0042417)2.62462622
177ribonucleoprotein complex disassembly (GO:0032988)2.60823677
178regulation of glycogen metabolic process (GO:0070873)2.58096577
179lung epithelial cell differentiation (GO:0060487)2.57602644
180homocysteine metabolic process (GO:0050667)2.56157497
181neurotransmitter secretion (GO:0007269)2.55975250
182regulation of polysaccharide biosynthetic process (GO:0032885)2.55846752
183lung cell differentiation (GO:0060479)2.55816817
184negative regulation of cellular carbohydrate metabolic process (GO:0010677)2.54520540
185branched-chain amino acid catabolic process (GO:0009083)2.54371708
186regulation of insulin receptor signaling pathway (GO:0046626)2.54367460
187cilium or flagellum-dependent cell motility (GO:0001539)16.7526700
188piRNA metabolic process (GO:0034587)11.8381242
189sperm motility (GO:0030317)11.7121683
190* fusion of sperm to egg plasma membrane (GO:0007342)11.5832404
191acrosome assembly (GO:0001675)11.2312647
192axonemal dynein complex assembly (GO:0070286)11.1744429
193* sperm-egg recognition (GO:0035036)10.4973245

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.73179462
2AR_21572438_ChIP-Seq_LNCaP_Human4.79933800
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.64323057
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.91614669
5PIAS1_25552417_ChIP-Seq_VCAP_Human3.57912105
6AR_21909140_ChIP-Seq_LNCAP_Human3.38935867
7ESR2_21235772_ChIP-Seq_MCF-7_Human3.17473714
8IGF1R_20145208_ChIP-Seq_DFB_Human3.04656572
9CHD1_26751641_Chip-Seq_LNCaP_Human3.03984466
10ZNF263_19887448_ChIP-Seq_K562_Human2.57614308
11CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.48694061
12AR_21915096_ChIP-Seq_LNCaP-1F5_Human2.47505412
13* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human2.45920315
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.33122407
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.31618135
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.28528076
17ZNF274_21170338_ChIP-Seq_K562_Hela2.26944151
18PKCTHETA_26484144_Chip-Seq_BREAST_Human2.26064516
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.25306492
20CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.22344244
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10134858
22EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.04527015
23PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01910516
24MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse12.2341091
25KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.96414279
26KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.96414279
27KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.96414279
28ELK4_26923725_Chip-Seq_MESODERM_Mouse1.89179401
29GATA1_26923725_Chip-Seq_HPCs_Mouse1.83250338
30DROSHA_22980978_ChIP-Seq_HELA_Human1.81768337
31ZNF217_24962896_ChIP-Seq_MCF-7_Human1.78340121
32ESR1_21235772_ChIP-Seq_MCF-7_Human1.75656760
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.63619797
34VDR_22108803_ChIP-Seq_LS180_Human1.63340581
35TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.60997139
36ESR1_20079471_ChIP-ChIP_T-47D_Human1.60746119
37CREB1_26743006_Chip-Seq_LNCaP_Human1.59789554
38FOXA1_25552417_ChIP-Seq_VCAP_Human1.57710701
39WDR5_24793694_ChIP-Seq_LNCAP_Human1.56220898
40KAP1_22055183_ChIP-Seq_ESCs_Mouse1.54024964
41PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53998979
42STAT1_17558387_ChIP-Seq_HELA_Human1.51329771
43RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.50941072
44KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.49737515
45NFE2_27457419_Chip-Seq_LIVER_Mouse1.46024588
46STAT6_21828071_ChIP-Seq_BEAS2B_Human1.45871751
47FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.45805788
48GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.45044024
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.44159089
50FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41233947
51ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.37288579
52ERG_21242973_ChIP-ChIP_JURKAT_Human1.35200494
53SUZ12_27294783_Chip-Seq_NPCs_Mouse1.35127855
54IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.34961473
55CBP_20019798_ChIP-Seq_JUKART_Human1.34961473
56BMI1_23680149_ChIP-Seq_NPCS_Mouse1.32483857
57* TAL1_26923725_Chip-Seq_HPCs_Mouse1.31128578
58CBX2_27304074_Chip-Seq_ESCs_Mouse1.31110592
59TAF15_26573619_Chip-Seq_HEK293_Human1.30437743
60KDM2B_26808549_Chip-Seq_REH_Human1.29597926
61FOXM1_26456572_ChIP-Seq_MCF-7_Human1.28896736
62NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.28323554
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26911920
64SOX2_22085726_ChIP-Seq_NPCs_Mouse1.25186093
65GATA3_21867929_ChIP-Seq_CD8_Mouse1.24832563
66MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.23898233
67RUNX1_27514584_Chip-Seq_MCF-7_Human1.22342719
68MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.21240968
69TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21092933
70CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.19421500
71AUTS2_25519132_ChIP-Seq_293T-REX_Human1.18511805
72E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.18403031
73ERA_21632823_ChIP-Seq_H3396_Human1.18102541
74EZH2_27294783_Chip-Seq_ESCs_Mouse1.18032271
75LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.17178909
76RXR_22108803_ChIP-Seq_LS180_Human1.16638155
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.15772650
78SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.15646155
79CRX_20693478_ChIP-Seq_RETINA_Mouse1.14345032
80CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.14205939
81REST_21632747_ChIP-Seq_MESCs_Mouse1.13710391
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13599816
83MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.12918186
84SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.09503384
85CTCF_27219007_Chip-Seq_Bcells_Human1.08993584
86ARNT_22903824_ChIP-Seq_MCF-7_Human1.07771497
87SMC4_20622854_ChIP-Seq_HELA_Human1.07673056
88GATA3_21867929_ChIP-Seq_TH1_Mouse1.07104657
89OCT4_18555785_Chip-Seq_ESCs_Mouse1.06668649
90GATA6_25053715_ChIP-Seq_YYC3_Human1.05125168
91EZH2_27294783_Chip-Seq_NPCs_Mouse1.04514641
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.04184198
93P53_21459846_ChIP-Seq_SAOS-2_Human1.04133404
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.03299834
95EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03076523
96FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03025060
97RACK7_27058665_Chip-Seq_MCF-7_Human1.02943165
98GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02698382
99MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02523213
100OCT1_27270436_Chip-Seq_PROSTATE_Human1.02400760
101CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02368414
102PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02125546
103RUNX1_26923725_Chip-Seq_HPCs_Mouse1.01788585
104SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.01731314
105P68_20966046_ChIP-Seq_HELA_Human1.01709568
106GF1_26923725_Chip-Seq_HPCs_Mouse1.01440878
107POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01395469
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01395469
109FUS_26573619_Chip-Seq_HEK293_Human1.00581976
110PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.00201638
111PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99897892
112SALL1_21062744_ChIP-ChIP_HESCs_Human0.99048483
113CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98627486
114RNF2_27304074_Chip-Seq_NSC_Mouse0.97802163
115RAD21_21589869_ChIP-Seq_MESCs_Mouse0.97737910
116OCT4_21477851_ChIP-Seq_ESCs_Mouse0.97622140
117P300_18555785_Chip-Seq_ESCs_Mouse0.97598640
118* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.97432062
119P53_22387025_ChIP-Seq_ESCs_Mouse0.97291374
120KLF4_18555785_Chip-Seq_ESCs_Mouse0.96424283
121MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96160410
122P300_19829295_ChIP-Seq_ESCs_Human0.95224225
123NFIB_24661679_ChIP-Seq_LUNG_Mouse0.95072847
124ZFP57_27257070_Chip-Seq_ESCs_Mouse0.94605337
125EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.94407720
126NANOG_18555785_ChIP-Seq_MESCs_Mouse0.93846093
127KDM5A_27292631_Chip-Seq_BREAST_Human0.93506280
128EWS_26573619_Chip-Seq_HEK293_Human0.93009287
129ESRRB_18555785_Chip-Seq_ESCs_Mouse0.92491227
130PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92392815
131ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92133846
132TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92074000
133CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91852830
134STAT3_18555785_Chip-Seq_ESCs_Mouse0.91575444
135SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.90732710
136CTBP2_25329375_ChIP-Seq_LNCAP_Human0.90212803
137RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89879014
138BCAT_22108803_ChIP-Seq_LS180_Human0.89796032
139YAP1_20516196_ChIP-Seq_MESCs_Mouse0.89777402
140E2F1_17053090_ChIP-ChIP_MCF-7_Human0.89545560
141RBPJ_22232070_ChIP-Seq_NCS_Mouse0.89442196
142PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89194747
143EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.88568912
144CMYC_18555785_Chip-Seq_ESCs_Mouse0.88543404
145ESET_19884257_ChIP-Seq_ESCs_Mouse0.88469418
146YY1_22570637_ChIP-Seq_MALME-3M_Human0.88238652
147PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.87880595
148ERG_20517297_ChIP-Seq_VCAP_Human0.87486317
149AR_25329375_ChIP-Seq_VCAP_Human0.87262461
150FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.86869246
151SOX2_21211035_ChIP-Seq_LN229_Human0.86580057
152EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.86390700
153CTBP1_25329375_ChIP-Seq_LNCAP_Human0.86264838
154E2F1_20622854_ChIP-Seq_HELA_Human0.86257023
155RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.86027948
156GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85240873
157HOXB7_26014856_ChIP-Seq_BT474_Human0.84978475
158SPI1_26923725_Chip-Seq_HPCs_Mouse0.84962332
159* OCT4_20526341_ChIP-Seq_ESCs_Human0.84668812
160RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83759314
161SUZ12_18555785_Chip-Seq_ESCs_Mouse0.83657888
162SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83403294
163CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.83372975
164PU1_27457419_Chip-Seq_LIVER_Mouse0.83131586
165RUNX1_27457419_Chip-Seq_LIVER_Mouse0.82717494
166KDM2B_26808549_Chip-Seq_K562_Human0.82188123
167* TCF4_23295773_ChIP-Seq_U87_Human0.82061318
168FOXA1_21572438_ChIP-Seq_LNCaP_Human0.81976775
169RXRA_24833708_ChIP-Seq_LIVER_Mouse0.81942112
170NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.81542064
171ER_23166858_ChIP-Seq_MCF-7_Human0.81529198
172RARA_24833708_ChIP-Seq_LIVER_Mouse0.81527585
173TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.81364452
174TCF4_22108803_ChIP-Seq_LS180_Human0.80863566
175REST_18959480_ChIP-ChIP_MESCs_Mouse0.80761520
176RING1B_27294783_Chip-Seq_NPCs_Mouse0.79260359
177EED_16625203_ChIP-ChIP_MESCs_Mouse0.79037866
178ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.77741491
179FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.76314644
180HTT_18923047_ChIP-ChIP_STHdh_Human0.76170241
181PHF8_20622854_ChIP-Seq_HELA_Human0.74530242
182SOX2_18555785_ChIP-Seq_MESCs_Mouse0.74400584

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003123_paternal_imprinting7.97586182
2MP0004858_abnormal_nervous_system6.05554085
3MP0008877_abnormal_DNA_methylation6.04658800
4* MP0003698_abnormal_male_reproductive5.97885095
5MP0001929_abnormal_gametogenesis5.67703539
6MP0002009_preneoplasia5.39538186
7MP0000537_abnormal_urethra_morphology4.40982381
8MP0003136_yellow_coat_color4.26345808
9MP0002210_abnormal_sex_determination4.10498139
10MP0002653_abnormal_ependyma_morphology3.64624543
11MP0001145_abnormal_male_reproductive3.42710831
12* MP0002161_abnormal_fertility/fecundity3.22266159
13MP0000653_abnormal_sex_gland2.97749054
14MP0003315_abnormal_perineum_morphology2.91557134
15MP0010234_abnormal_vibrissa_follicle2.74258125
16MP0003121_genomic_imprinting2.63862223
17MP0002166_altered_tumor_susceptibility2.50808914
18MP0008057_abnormal_DNA_replication2.44206770
19MP0005623_abnormal_meninges_morphology2.34114458
20MP0004145_abnormal_muscle_electrophysio2.23218778
21MP0002160_abnormal_reproductive_system2.18727709
22* MP0005410_abnormal_fertilization14.4423101
23MP0005367_renal/urinary_system_phenotyp1.88135558
24MP0000516_abnormal_urinary_system1.88135558
25MP0000538_abnormal_urinary_bladder1.87756164
26MP0005670_abnormal_white_adipose1.67952278
27MP0002006_tumorigenesis1.66174330
28MP0004185_abnormal_adipocyte_glucose1.61965202
29MP0002249_abnormal_larynx_morphology1.61709327
30MP0004742_abnormal_vestibular_system1.61677594
31MP0003959_abnormal_lean_body1.57139564
32MP0001501_abnormal_sleep_pattern1.55018085
33MP0002822_catalepsy1.53653191
34MP0005451_abnormal_body_composition1.53448927
35MP0008058_abnormal_DNA_repair1.48975610
36MP0010094_abnormal_chromosome_stability1.48583792
37MP0002282_abnormal_trachea_morphology1.44848547
38MP0004947_skin_inflammation1.44294247
39MP0003646_muscle_fatigue1.37859062
40MP0001919_abnormal_reproductive_system1.34299103
41MP0005647_abnormal_sex_gland1.28211398
42MP0000627_abnormal_mammary_gland1.26841245
43MP0009046_muscle_twitch1.26139589
44MP0000534_abnormal_ureter_morphology1.23420214
45MP0005386_behavior/neurological_phenoty1.20612585
46MP0004924_abnormal_behavior1.20612585
47MP0004233_abnormal_muscle_weight1.17329781
48MP0008995_early_reproductive_senescence1.16851026
49MP0003705_abnormal_hypodermis_morpholog1.15667851
50MP0002132_abnormal_respiratory_system1.13077043
51MP0008007_abnormal_cellular_replicative1.12422412
52MP0005389_reproductive_system_phenotype1.12277909
53MP0001984_abnormal_olfaction1.10110099
54MP0003011_delayed_dark_adaptation1.09051078
55MP0003786_premature_aging1.08855412
56MP0003718_maternal_effect1.07033426
57MP0004381_abnormal_hair_follicle1.03043165
58MP0005187_abnormal_penis_morphology1.01442093
59MP0009780_abnormal_chondrocyte_physiolo0.98485176
60MP0009053_abnormal_anal_canal0.96751234
61MP0002090_abnormal_vision0.94219020
62MP0001944_abnormal_pancreas_morphology0.93450131
63MP0000613_abnormal_salivary_gland0.93263968
64MP0000372_irregular_coat_pigmentation0.92450555
65MP0002909_abnormal_adrenal_gland0.91757818
66MP0002734_abnormal_mechanical_nocicepti0.91280116
67MP0001765_abnormal_ion_homeostasis0.91109795
68MP0005171_absent_coat_pigmentation0.89428267
69MP0002572_abnormal_emotion/affect_behav0.88965932
70MP0002063_abnormal_learning/memory/cond0.86679516
71MP0002557_abnormal_social/conspecific_i0.84316837
72MP0001881_abnormal_mammary_gland0.84022253
73MP0004782_abnormal_surfactant_physiolog0.82532763
74MP0000955_abnormal_spinal_cord0.82403979
75MP0005058_abnormal_lysosome_morphology0.81751822
76MP0001440_abnormal_grooming_behavior0.80295349
77MP0005379_endocrine/exocrine_gland_phen0.78426603
78MP0000569_abnormal_digit_pigmentation0.78407270
79MP0005220_abnormal_exocrine_pancreas0.76944577
80MP0001873_stomach_inflammation0.76119603
81MP0004134_abnormal_chest_morphology0.74612667
82MP0000026_abnormal_inner_ear0.74070770
83MP0001348_abnormal_lacrimal_gland0.72944110
84MP0004085_abnormal_heartbeat0.72746328
85MP0003111_abnormal_nucleus_morphology0.71067260
86MP0004808_abnormal_hematopoietic_stem0.70186480
87MP0000358_abnormal_cell_content/0.69973595
88MP0002163_abnormal_gland_morphology0.67586351
89MP0005377_hearing/vestibular/ear_phenot0.67546456
90MP0003878_abnormal_ear_physiology0.67546456
91MP0003950_abnormal_plasma_membrane0.66928351
92MP0005395_other_phenotype0.65868860
93MP0005397_hematopoietic_system_phenotyp0.65395071
94MP0001545_abnormal_hematopoietic_system0.65395071
95MP0002234_abnormal_pharynx_morphology0.65018834
96MP0008004_abnormal_stomach_pH0.64610408
97MP0001485_abnormal_pinna_reflex0.64607888
98MP0000733_abnormal_muscle_development0.63731300
99MP0001905_abnormal_dopamine_level0.63076764
100MP0001849_ear_inflammation0.62870182
101MP0010307_abnormal_tumor_latency0.62675750
102MP0005310_abnormal_salivary_gland0.61507817
103MP0005646_abnormal_pituitary_gland0.60178131
104MP0002928_abnormal_bile_duct0.58952010
105MP0009278_abnormal_bone_marrow0.58148939
106MP0003115_abnormal_respiratory_system0.55744043
107MP0001968_abnormal_touch/_nociception0.55048453
108MP0002876_abnormal_thyroid_physiology0.54713209
109MP0002102_abnormal_ear_morphology0.53251494
110MP0003699_abnormal_female_reproductive0.52533112
111MP0005360_urolithiasis0.52383290
112MP0001119_abnormal_female_reproductive0.51810583
113MP0002067_abnormal_sensory_capabilities0.51526917
114MP0003075_altered_response_to0.48271657
115MP0002075_abnormal_coat/hair_pigmentati0.48167197
116MP0002229_neurodegeneration0.48019226
117MP0002796_impaired_skin_barrier0.47782556
118MP0001730_embryonic_growth_arrest0.47697327
119MP0003938_abnormal_ear_development0.47402817
120MP0000778_abnormal_nervous_system0.47147562
121MP0003077_abnormal_cell_cycle0.45348706
122MP0003755_abnormal_palate_morphology0.44995448
123MP0005636_abnormal_mineral_homeostasis0.44157312
124MP0000747_muscle_weakness0.43567431
125MP0001293_anophthalmia0.42420697
126MP0005375_adipose_tissue_phenotype0.42151701
127MP0000427_abnormal_hair_cycle0.41765354
128MP0003329_amyloid_beta_deposits0.41182974
129MP0005666_abnormal_adipose_tissue0.39819985
130MP0004019_abnormal_vitamin_homeostasis0.39248202
131MP0001727_abnormal_embryo_implantation0.38061902
132MP0005551_abnormal_eye_electrophysiolog0.37943292
133MP0005253_abnormal_eye_physiology0.37118914
134MP0001324_abnormal_eye_pigmentation0.36879374
135MP0002971_abnormal_brown_adipose0.35050536
136MP0005391_vision/eye_phenotype0.34680426
137MP0002269_muscular_atrophy0.34571628
138MP0000313_abnormal_cell_death0.34537959
139MP0006036_abnormal_mitochondrial_physio0.31904970
140MP0004036_abnormal_muscle_relaxation0.30806575
141MP0001661_extended_life_span0.30793571
142MP0001851_eye_inflammation0.29374361
143MP0001764_abnormal_homeostasis0.29313688
144MP0003045_fibrosis0.28918635
145MP0003861_abnormal_nervous_system0.27772074
146MP0002084_abnormal_developmental_patter0.27757913
147MP0000647_abnormal_sebaceous_gland0.27618653
148MP0003879_abnormal_hair_cell0.25936504
149MP0002152_abnormal_brain_morphology0.24636596
150MP0009115_abnormal_fat_cell0.24532462
151MP0002092_abnormal_eye_morphology0.24210558
152MP0008961_abnormal_basal_metabolism0.22096954
153MP0001672_abnormal_embryogenesis/_devel0.21771500
154MP0005380_embryogenesis_phenotype0.21771500
155MP0001697_abnormal_embryo_size0.21038667
156MP0004811_abnormal_neuron_physiology0.20686414
157MP0000751_myopathy0.20510714
158MP0003633_abnormal_nervous_system0.20457864
159MP0000604_amyloidosis0.18512275
160MP0005076_abnormal_cell_differentiation0.18326627
161MP0006035_abnormal_mitochondrial_morpho0.17860692
162MP0003936_abnormal_reproductive_system0.17421129
163MP0002970_abnormal_white_adipose0.17419749
164MP0000015_abnormal_ear_pigmentation0.17369515
165MP0004133_heterotaxia0.17139353
166MP0003942_abnormal_urinary_system0.16743636
167MP0004197_abnormal_fetal_growth/weight/0.16335277
168MP0003631_nervous_system_phenotype0.16307905
169MP0002080_prenatal_lethality0.16066531
170MP0002108_abnormal_muscle_morphology0.15920869
171MP0005365_abnormal_bile_salt0.15839078
172MP0003984_embryonic_growth_retardation0.15670458
173MP0002405_respiratory_system_inflammati0.15302749
174MP0002139_abnormal_hepatobiliary_system0.15052238
175MP0006138_congestive_heart_failure0.14805799
176MP0000432_abnormal_head_morphology0.14302157
177MP0004264_abnormal_extraembryonic_tissu0.13943801

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.34811714
2Abnormal respiratory motile cilium morphology (HP:0005938)8.78115296
3Abnormal respiratory epithelium morphology (HP:0012253)8.78115296
4Rhinitis (HP:0012384)8.12607431
5Sparse lateral eyebrow (HP:0005338)7.60953702
6Abnormal ciliary motility (HP:0012262)7.50663522
7Chronic bronchitis (HP:0004469)7.26089083
8Neonatal hypoglycemia (HP:0001998)6.44655508
9Nasal polyposis (HP:0100582)6.44010101
10Testicular atrophy (HP:0000029)6.28757456
11Infertility (HP:0000789)6.16227946
12Calf muscle hypertrophy (HP:0008981)6.14517653
13Abnormality of secondary sexual hair (HP:0009888)5.82105923
14Abnormality of the axillary hair (HP:0100134)5.82105923
15Muscle hypertrophy of the lower extremities (HP:0008968)5.44466839
16Abnormality of the nasal mucosa (HP:0000433)5.28307276
17Concave nail (HP:0001598)5.04220845
18Prostate neoplasm (HP:0100787)5.00083491
19Lip pit (HP:0100267)4.90476346
20Depressed nasal tip (HP:0000437)4.83113662
21Abnormality of the fingertips (HP:0001211)4.81007962
22Testicular neoplasm (HP:0010788)4.74830177
23Bronchiectasis (HP:0002110)4.67053614
24Abnormality of long-chain fatty-acid metabolism (HP:0010964)4.60108674
25Nephronophthisis (HP:0000090)4.59321531
26Bronchitis (HP:0012387)4.46457282
27Abnormality of the lower motor neuron (HP:0002366)4.18678595
28Germ cell neoplasia (HP:0100728)3.83993810
29Macroorchidism (HP:0000053)3.71592438
30Hypothermia (HP:0002045)3.64619827
31Abnormality of the renal medulla (HP:0100957)3.52306762
32Recurrent sinusitis (HP:0011108)3.32411206
33Gonadotropin excess (HP:0000837)3.32005457
34Bulbar palsy (HP:0001283)3.31205498
35Recurrent otitis media (HP:0000403)3.28583977
36Amyotrophic lateral sclerosis (HP:0007354)3.20421320
37Abnormality of fatty-acid metabolism (HP:0004359)3.19646783
38Obstructive sleep apnea (HP:0002870)3.17954750
39Male infertility (HP:0003251)2.97097233
40Glossoptosis (HP:0000162)2.95895629
41Tubulointerstitial nephritis (HP:0001970)2.95881507
42Absent hair (HP:0002298)2.81526729
43Fibular hypoplasia (HP:0003038)2.80986855
44Long palpebral fissure (HP:0000637)2.80430168
45Abnormal spermatogenesis (HP:0008669)2.79117932
46Overgrowth (HP:0001548)2.77220794
47Medial flaring of the eyebrow (HP:0010747)2.76985955
48Abnormality of the columella (HP:0009929)2.75741500
49Abnormal pupillary function (HP:0007686)2.73581983
50Recurrent bronchitis (HP:0002837)2.60036082
51Tubular atrophy (HP:0000092)2.57980264
52Abnormality of midbrain morphology (HP:0002418)2.57847740
53Molar tooth sign on MRI (HP:0002419)2.57847740
54Skin pits (HP:0100276)2.53707325
55Hyperthyroidism (HP:0000836)2.52243595
56Impaired proprioception (HP:0010831)2.51364893
57Advanced eruption of teeth (HP:0006288)2.50065903
58Pheochromocytoma (HP:0002666)2.45770464
59Upper motor neuron abnormality (HP:0002127)2.45598480
60Tubulointerstitial abnormality (HP:0001969)2.45495428
61Premature skin wrinkling (HP:0100678)2.44994867
62Bifid scrotum (HP:0000048)2.35999638
63Abnormality of the aortic arch (HP:0012303)2.35488851
64Impulsivity (HP:0100710)2.32443108
65Degeneration of anterior horn cells (HP:0002398)2.31080046
66Abnormality of the anterior horn cell (HP:0006802)2.31080046
67Azoospermia (HP:0000027)2.30405942
68Limb hypertonia (HP:0002509)2.30187238
69Aplasia of the musculature (HP:0100854)2.26168874
70Truncal ataxia (HP:0002078)2.20905362
71Hypoplasia of the capital femoral epiphysis (HP:0003090)2.20219280
72Broad face (HP:0000283)2.19838720
73Postaxial foot polydactyly (HP:0001830)2.19376938
74Broad nasal tip (HP:0000455)2.17949417
75Self-mutilation (HP:0000742)2.15764172
76Prolonged neonatal jaundice (HP:0006579)2.15332571
77Amelogenesis imperfecta (HP:0000705)2.14475606
78Severe visual impairment (HP:0001141)2.14007837
79Hamartoma of the eye (HP:0010568)2.13405866
80Stage 5 chronic kidney disease (HP:0003774)2.07501427
81Absent frontal sinuses (HP:0002688)2.04650529
82Proximal tubulopathy (HP:0000114)2.04606594
83Anal stenosis (HP:0002025)2.03357664
84Abnormality of homocysteine metabolism (HP:0010919)2.02975119
85Homocystinuria (HP:0002156)2.02975119
86Abnormality of the calf musculature (HP:0001430)2.01829226
87Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.5780700
88Dynein arm defect of respiratory motile cilia (HP:0012255)12.3817660
89Absent/shortened dynein arms (HP:0200106)12.3817660
90Precocious puberty (HP:0000826)1.97620573
91Conjunctival hamartoma (HP:0100780)1.97443041
92Congenital hepatic fibrosis (HP:0002612)1.93834164
93Short ribs (HP:0000773)1.93767211
9411 pairs of ribs (HP:0000878)1.93709972
95Tubulointerstitial fibrosis (HP:0005576)1.91270841
96Limb ataxia (HP:0002070)1.90527051
97Asymmetry of the thorax (HP:0001555)1.89716888
98Supernumerary spleens (HP:0009799)1.89660179
99Abnormality of the renal cortex (HP:0011035)1.89182387
100Chronic sinusitis (HP:0011109)1.88666096
101Microglossia (HP:0000171)1.88260119
102Erectile abnormalities (HP:0100639)1.87408744
103Renal dysplasia (HP:0000110)1.86334627
104Cone-rod dystrophy (HP:0000548)1.86240104
105Progressive cerebellar ataxia (HP:0002073)1.86142763
106Resting tremor (HP:0002322)1.85661847
107Abnormality of the prostate (HP:0008775)1.85503452
108J-shaped sella turcica (HP:0002680)1.85489921
109Oculomotor apraxia (HP:0000657)1.85252273
110Congenital stationary night blindness (HP:0007642)1.82095653
111Abnormality of dentin (HP:0010299)1.81258146
112Neoplasm of the heart (HP:0100544)1.81145308
113Death in childhood (HP:0003819)1.80355626
114Polycystic kidney dysplasia (HP:0000113)1.80292993
115Exotropia (HP:0000577)1.79542839
116Neuroendocrine neoplasm (HP:0100634)1.78733389
117Open mouth (HP:0000194)1.78559672
118Generalized aminoaciduria (HP:0002909)1.77770344
119Abnormality of permanent molar morphology (HP:0011071)1.76104934
120Abnormality of the dental root (HP:0006486)1.76104934
121Taurodontia (HP:0000679)1.76104934
122Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.74714964
123Aplasia/Hypoplasia of the fibula (HP:0006492)1.74338304
124Tented upper lip vermilion (HP:0010804)1.74272690
125Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.74208409
126Absent epiphyses (HP:0010577)1.74208409
127Facial cleft (HP:0002006)1.73398785
128Polydipsia (HP:0001959)1.73301992
129Abnormal drinking behavior (HP:0030082)1.73301992
130Clumsiness (HP:0002312)1.70854510
131Abnormality of male internal genitalia (HP:0000022)1.70253544
132Absent speech (HP:0001344)1.69589418
133Acanthocytosis (HP:0001927)1.69515747
134Postaxial hand polydactyly (HP:0001162)1.68367418
135Skin tags (HP:0010609)1.68053015
136Congenital primary aphakia (HP:0007707)1.67590186
137Spastic tetraparesis (HP:0001285)1.67252700
138Abnormally folded helix (HP:0008544)1.66993546
139Conjunctival telangiectasia (HP:0000524)1.66931935
140Gait imbalance (HP:0002141)1.66837746
141Horizontal nystagmus (HP:0000666)1.66235018
142Hyperventilation (HP:0002883)1.65160377
143Abnormality of molar morphology (HP:0011070)1.64836855
144Abnormality of molar (HP:0011077)1.64836855
145Inappropriate behavior (HP:0000719)1.64590609
146Prominent nose (HP:0000448)1.64438999
147Heterotopia (HP:0002282)1.62177301
148Ketoacidosis (HP:0001993)1.62159739
149Type II lissencephaly (HP:0007260)1.61603836
150Male pseudohermaphroditism (HP:0000037)1.61491424
151Microretrognathia (HP:0000308)1.60943440
152Bony spicule pigmentary retinopathy (HP:0007737)1.60872273
153Large for gestational age (HP:0001520)1.60776198
154Hypoplasia of the odontoid process (HP:0003311)1.59950152
155Abnormality of the dental pulp (HP:0006479)1.58321066
156Ectropion (HP:0000656)1.58317825
157Median cleft lip (HP:0000161)1.53684777
158Short thorax (HP:0010306)1.52486504
159Breast carcinoma (HP:0003002)1.49197432
160Bell-shaped thorax (HP:0001591)1.49138469
161Abnormality of renal excretion (HP:0011036)1.48683790
162Abnormality of ocular smooth pursuit (HP:0000617)1.46457329
163Aplasia/Hypoplasia of the tongue (HP:0010295)1.44964969
164Selective tooth agenesis (HP:0001592)1.43727652
165Nephrogenic diabetes insipidus (HP:0009806)1.43428093
166Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.43375563
167Large eyes (HP:0001090)1.41340987
168Cholecystitis (HP:0001082)1.40944799
169Abnormal gallbladder physiology (HP:0012438)1.40944799
170Deformed sella turcica (HP:0002681)1.40734472
171Broad distal phalanx of finger (HP:0009836)1.39282599
172Cystic liver disease (HP:0006706)1.37888211
173Nephropathy (HP:0000112)1.33505774
174Gaze-evoked nystagmus (HP:0000640)1.33264413
175Abnormal biliary tract physiology (HP:0012439)1.33235212
176Bile duct proliferation (HP:0001408)1.33235212
177Decreased motor nerve conduction velocity (HP:0003431)1.31625014
178Pachygyria (HP:0001302)1.30776986
179Aplasia/Hypoplasia of the lens (HP:0008063)1.29606502
180Abnormality of the vasculature of the conjunctiva (HP:0008054)1.28555177
181Poor coordination (HP:0002370)1.27912578
182Cerebellar dysplasia (HP:0007033)1.27514038
183Pancreatic fibrosis (HP:0100732)1.26991682
184Atrophy/Degeneration involving motor neurons (HP:0007373)1.26220825

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK39.29843454
2PDK49.29843454
3PDK26.03431835
4TNK25.81502868
5AKT35.35448447
6TESK14.11354296
7FER3.52273072
8PRKD33.32428767
9ICK2.91244306
10CAMK1D2.66609156
11PNCK2.55085232
12PTK2B2.42582195
13WNK42.42536214
14FRK2.36845030
15STK392.33322718
16PRKD22.25953740
17SIK12.13440108
18TRIB32.10225430
19NEK22.02450393
20MAPK131.76831883
21GRK11.70266752
22CDK71.44714843
23IRAK31.36366915
24PKN21.27578869
25STK381.25011708
26PRKCH1.21996511
27WNK11.15602200
28HIPK21.12278428
29MAPK151.11917813
30CDC71.11113209
31TAF11.11074620
32FGFR21.08978928
33CASK1.08179047
34CCNB11.05044206
35STK31.01479754
36PASK0.96528564
37MAPKAPK30.95004472
38TYRO30.94223750
39EIF2AK10.91951855
40DYRK1B0.85024318
41PDK10.81325262
42WEE10.81281756
43SGK20.78242738
44TTK0.72033978
45PRKCE0.71851851
46INSRR0.67992785
47DYRK30.61476794
48MAP3K110.60530009
49PAK30.59512639
50ATR0.59110110
51IRAK10.58995108
52PLK40.57799224
53MAP2K40.57459060
54PINK10.55993771
55CHEK10.55785171
56PRKD10.54868649
57EPHA20.52678372
58CHEK20.52533981
59CAMK1G0.52155986
60LMTK20.52137613
61ARAF0.51711682
62ADRBK20.51707553
63MAP3K90.51606593
64CDK120.50176019
65CAMKK20.47647529
66SGK4940.46761536
67SGK2230.46761536
68RPS6KA20.45670439
69LATS20.45414768
70RPS6KB20.45172732
71BMPR1B0.44663664
72TESK20.43987374
73PRKAA20.43860064
74SGK30.43237926
75AKT10.41155610
76EPHA30.39673978
77ATM0.38777250
78TEC0.37903989
79CHUK0.37665594
80MAPK140.34943874
81MTOR0.31949317
82CSNK1A1L0.31284083
83PLK10.30836667
84EEF2K0.30430250
85LATS10.27921134
86TAOK20.27092123
87TSSK60.25940426
88PAK10.25655834
89MAP2K60.24557941
90STK38L0.24504984
91PRKCI0.23994223
92NTRK20.23402536
93PAK20.22215379
94CAMKK10.21848795
95PDPK10.20485954
96PRKAA10.19604984
97RPS6KL10.17963988
98RPS6KC10.17963988
99RPS6KA60.17317354
100PRKCG0.17283008
101RPS6KB10.17000762
102ERBB30.15185142
103ILK0.15139521
104MAPK120.14967704
105CDK50.14842040
106SMG10.14402862
107FYN0.13962514
108IRAK20.12646905
109NEK60.12523190
110MUSK0.12403667
111MAPKAPK50.12366039
112WNK30.12109600
113BRSK20.11992357
114PHKG20.11292065
115PHKG10.11292065
116MARK20.10216452
117CSNK1A10.10182150
118IRAK40.09404145
119CSNK1D0.09083798
120CDK10.07451988
121MAP3K40.06523697
122CDK20.06335616
123BUB10.06317229
124RIPK10.05800880
125CSNK2A10.05601004
126PRKDC0.05167802
127BRAF0.04970471
128YES10.04952768
129RIPK40.04038570
130PRKG10.03753587
131STK100.03615712
132PRKACB0.03503392
133GSK3B0.03423653
134MARK30.03395846
135CSF1R0.03244623
136MAPK80.02834102
137EGFR0.02646307
138PDGFRB0.02597875
139PRKACG0.02561277
140CDK30.01992976
141PAK60.01743831
142PAK40.01636381
143PRKCQ0.01610983
144STK110.01336656
145CSNK2A20.01142936
146ZAP700.00640426
147CDK150.00333935
148CDK40.00072421
149AURKA-0.0497554
150CDK14-0.0447447
151AURKB-0.0414289
152MAPK1-0.0352608
153CSK-0.0279375
154TAOK1-0.0267573
155CDK11A-0.0229774
156MAPK10-0.0185421
157RPS6KA3-0.0180007
158CDK18-0.0168689
159RPS6KA1-0.0150403
160BRSK1-0.0137816
161PRKCB-0.0107220
162PRKCZ-0.0026103

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.17958940
2Phenylalanine metabolism_Homo sapiens_hsa003604.72211635
3Pyruvate metabolism_Homo sapiens_hsa006204.54310522
4Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.12123361
5Histidine metabolism_Homo sapiens_hsa003403.79231028
6Propanoate metabolism_Homo sapiens_hsa006403.57659555
7Tryptophan metabolism_Homo sapiens_hsa003803.48888903
8Dorso-ventral axis formation_Homo sapiens_hsa043202.95725330
9Selenocompound metabolism_Homo sapiens_hsa004502.95396129
10Basal transcription factors_Homo sapiens_hsa030222.92382780
11Glucagon signaling pathway_Homo sapiens_hsa049222.91334516
12Fanconi anemia pathway_Homo sapiens_hsa034602.81471334
13Fatty acid biosynthesis_Homo sapiens_hsa000612.75860539
14Pentose phosphate pathway_Homo sapiens_hsa000302.75507698
15Cocaine addiction_Homo sapiens_hsa050302.56225068
16Vitamin digestion and absorption_Homo sapiens_hsa049772.44068955
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.30691218
18Tyrosine metabolism_Homo sapiens_hsa003502.23564505
19Linoleic acid metabolism_Homo sapiens_hsa005912.18799436
20Oocyte meiosis_Homo sapiens_hsa041142.15804198
21Arginine and proline metabolism_Homo sapiens_hsa003302.11674151
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.07404247
23Huntingtons disease_Homo sapiens_hsa050162.04923151
24Glycerolipid metabolism_Homo sapiens_hsa005611.97005147
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.78490825
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.74889894
27Choline metabolism in cancer_Homo sapiens_hsa052311.73782937
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.70587736
29Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.69327405
30Butanoate metabolism_Homo sapiens_hsa006501.63528082
31Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.59130983
32PPAR signaling pathway_Homo sapiens_hsa033201.55470673
33Amphetamine addiction_Homo sapiens_hsa050311.52838579
34Primary bile acid biosynthesis_Homo sapiens_hsa001201.51009916
35RNA transport_Homo sapiens_hsa030131.50561881
36mRNA surveillance pathway_Homo sapiens_hsa030151.49417816
37Endometrial cancer_Homo sapiens_hsa052131.47016101
38Carbohydrate digestion and absorption_Homo sapiens_hsa049731.46993059
39Carbon metabolism_Homo sapiens_hsa012001.45822730
40Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.41781476
41Glycosaminoglycan degradation_Homo sapiens_hsa005311.40015706
42Renin secretion_Homo sapiens_hsa049241.33557959
43Vibrio cholerae infection_Homo sapiens_hsa051101.32413061
44Fructose and mannose metabolism_Homo sapiens_hsa000511.31917220
45Lysine degradation_Homo sapiens_hsa003101.27781959
46Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.22294723
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.21859434
48Antigen processing and presentation_Homo sapiens_hsa046121.21500945
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.21167500
50Glycerophospholipid metabolism_Homo sapiens_hsa005641.20390768
51Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.20327871
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18559505
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.13217598
54Dopaminergic synapse_Homo sapiens_hsa047281.13098058
55Cardiac muscle contraction_Homo sapiens_hsa042601.11239358
56Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.06855309
57Longevity regulating pathway - mammal_Homo sapiens_hsa042111.02636868
58Prostate cancer_Homo sapiens_hsa052151.01913546
59Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.01215004
60Purine metabolism_Homo sapiens_hsa002300.98307930
61Biosynthesis of amino acids_Homo sapiens_hsa012300.98163792
62ABC transporters_Homo sapiens_hsa020100.98137141
63Notch signaling pathway_Homo sapiens_hsa043300.97801961
64mTOR signaling pathway_Homo sapiens_hsa041500.97733266
65Fat digestion and absorption_Homo sapiens_hsa049750.96269206
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.95774112
67Ether lipid metabolism_Homo sapiens_hsa005650.92331157
68Gap junction_Homo sapiens_hsa045400.91933527
69Insulin resistance_Homo sapiens_hsa049310.91512910
70Fatty acid metabolism_Homo sapiens_hsa012120.90070303
71Olfactory transduction_Homo sapiens_hsa047400.89423240
72Salivary secretion_Homo sapiens_hsa049700.88163865
73Long-term potentiation_Homo sapiens_hsa047200.83772074
74N-Glycan biosynthesis_Homo sapiens_hsa005100.81469381
75Insulin signaling pathway_Homo sapiens_hsa049100.81105123
76Prion diseases_Homo sapiens_hsa050200.79212263
77Fatty acid degradation_Homo sapiens_hsa000710.78627531
78Serotonergic synapse_Homo sapiens_hsa047260.77838704
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76248997
80Tight junction_Homo sapiens_hsa045300.76241299
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.70222374
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68966932
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.68608000
84Mineral absorption_Homo sapiens_hsa049780.68095360
85Homologous recombination_Homo sapiens_hsa034400.67134882
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.66624213
87Estrogen signaling pathway_Homo sapiens_hsa049150.66579553
88Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.65546285
89Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.64561854
90Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64516903
912-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.62972143
92Glutathione metabolism_Homo sapiens_hsa004800.60908263
93Ovarian steroidogenesis_Homo sapiens_hsa049130.58582267
94VEGF signaling pathway_Homo sapiens_hsa043700.55650923
95Type II diabetes mellitus_Homo sapiens_hsa049300.55383877
96Aldosterone synthesis and secretion_Homo sapiens_hsa049250.54996303
97Chemical carcinogenesis_Homo sapiens_hsa052040.54508687
98Calcium signaling pathway_Homo sapiens_hsa040200.53717108
99Legionellosis_Homo sapiens_hsa051340.52973139
100cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52156095
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.50728907
102beta-Alanine metabolism_Homo sapiens_hsa004100.49922444
103Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48170223
104Peroxisome_Homo sapiens_hsa041460.48059007
105RNA degradation_Homo sapiens_hsa030180.47453247
106Non-small cell lung cancer_Homo sapiens_hsa052230.46825554
107Systemic lupus erythematosus_Homo sapiens_hsa053220.45874633
108Phototransduction_Homo sapiens_hsa047440.45267205
109Phosphatidylinositol signaling system_Homo sapiens_hsa040700.44939847
110Glutamatergic synapse_Homo sapiens_hsa047240.44158697
111Basal cell carcinoma_Homo sapiens_hsa052170.43198902
112AMPK signaling pathway_Homo sapiens_hsa041520.43188613
113Cholinergic synapse_Homo sapiens_hsa047250.43106195
114Arachidonic acid metabolism_Homo sapiens_hsa005900.42236161
115Melanogenesis_Homo sapiens_hsa049160.41222834
116Cell cycle_Homo sapiens_hsa041100.39355433
117Adipocytokine signaling pathway_Homo sapiens_hsa049200.39004994
118Inositol phosphate metabolism_Homo sapiens_hsa005620.38265020
119Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.37441119
120Endocytosis_Homo sapiens_hsa041440.35443469
121Metabolic pathways_Homo sapiens_hsa011000.34561523
122Hedgehog signaling pathway_Homo sapiens_hsa043400.34446584
123Gastric acid secretion_Homo sapiens_hsa049710.32234210
124Renin-angiotensin system_Homo sapiens_hsa046140.32162686
125Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.31156728
126Pyrimidine metabolism_Homo sapiens_hsa002400.30838990
127Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.29242172
128B cell receptor signaling pathway_Homo sapiens_hsa046620.29102284
129Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.28491528
130Oxytocin signaling pathway_Homo sapiens_hsa049210.28286610
131Adherens junction_Homo sapiens_hsa045200.26133454
132ErbB signaling pathway_Homo sapiens_hsa040120.26015204
133Hepatitis C_Homo sapiens_hsa051600.25424016
134Bile secretion_Homo sapiens_hsa049760.25044613
135Collecting duct acid secretion_Homo sapiens_hsa049660.24906761
136Taste transduction_Homo sapiens_hsa047420.24139465
137Retinol metabolism_Homo sapiens_hsa008300.23825174
138Renal cell carcinoma_Homo sapiens_hsa052110.23519515
139Pentose and glucuronate interconversions_Homo sapiens_hsa000400.23169579
140Insulin secretion_Homo sapiens_hsa049110.22804079
141Viral carcinogenesis_Homo sapiens_hsa052030.22771403
142Thyroid hormone synthesis_Homo sapiens_hsa049180.22488749
143Wnt signaling pathway_Homo sapiens_hsa043100.20094386
144Sphingolipid metabolism_Homo sapiens_hsa006000.17255329
145Circadian entrainment_Homo sapiens_hsa047130.16123302
146Vascular smooth muscle contraction_Homo sapiens_hsa042700.15362057
147Protein digestion and absorption_Homo sapiens_hsa049740.14767303
148Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.13388842
149Spliceosome_Homo sapiens_hsa030400.11368551
150Synaptic vesicle cycle_Homo sapiens_hsa047210.11248246
151Alcoholism_Homo sapiens_hsa050340.11236833
152Epstein-Barr virus infection_Homo sapiens_hsa051690.10476898
153cAMP signaling pathway_Homo sapiens_hsa040240.09705180
154Salmonella infection_Homo sapiens_hsa051320.09369668
155Thyroid hormone signaling pathway_Homo sapiens_hsa049190.08916145
156HTLV-I infection_Homo sapiens_hsa051660.07750845

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